#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
COL8A2	1296	broad.mit.edu	37	1	36564428	36564428	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:36564428G>T	ENST00000397799.1	-	4	1078	c.854C>A	c.(853-855)gCa>gAa	p.A285E	COL8A2_ENST00000481785.1_Missense_Mutation_p.A220E|COL8A2_ENST00000303143.4_Missense_Mutation_p.A285E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	285	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAACCCTGCTGCCCCTGGGAC	0.692																																							uc001bzv.1		NA																	0				central_nervous_system(1)	1						c.(853-855)GCA>GAA		collagen, type VIII, alpha 2 precursor							15.0	18.0	17.0					1																	36564428		2187	4281	6468	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564428G>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.854C>A	1.37:g.36564428G>T	ENSP00000380901:p.Ala285Glu					COL8A2_uc001bzw.1_Missense_Mutation_p.A220E	p.A285E	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	861	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	285			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.854C>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	0.747	-0.774167	0.02951	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97575	-4.44;-4.44;-4.44	3.83	2.91	0.33838	.	0.691089	0.14127	N	0.339654	D	0.88633	0.6489	N	0.04686	-0.185	0.34004	D	0.650675	B	0.19935	0.04	B	0.20184	0.028	T	0.82810	-0.0273	10	0.02654	T	1	.	6.9533	0.24558	0.3596:0.0:0.6404:0.0	.	285	P25067	CO8A2_HUMAN	E	285;285;220	ENSP00000305913:A285E;ENSP00000380901:A285E;ENSP00000436433:A220E	ENSP00000305913:A285E	A	-	2	0	COL8A2	36337015	0.002000	0.14202	1.000000	0.80357	0.927000	0.56198	1.670000	0.37502	0.824000	0.34613	0.407000	0.27541	GCA		0.692	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		12	29	1	0	3.07112e-06	0.010729	3.48613e-06	12	29				
AKR1A1	10327	broad.mit.edu	37	1	46033774	46033774	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:46033774G>T	ENST00000372070.3	+	6	1224	c.477G>T	c.(475-477)ctG>ctT	p.L159L	AKR1A1_ENST00000473038.1_3'UTR|AKR1A1_ENST00000351829.4_Silent_p.L159L	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	159					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	TGCAGGCGCTGGGCCTGTCCA	0.562																																							uc001cod.2		NA																	0					0						c.(475-477)CTG>CTT		aldo-keto reductase family 1, member A1							83.0	72.0	76.0					1																	46033774		2203	4300	6503	SO:0001819	synonymous_variant	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46033774G>T	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.477G>T	1.37:g.46033774G>T						AKR1A1_uc001coe.2_Silent_p.L159L|AKR1A1_uc001cof.2_Missense_Mutation_p.W32L|AKR1A1_uc001cog.2_RNA	p.L159L	NM_006066	NP_006057	P14550	AK1A1_HUMAN			6	941	+	Acute lymphoblastic leukemia(166;0.155)		159					A8KAL8|D3DQ04|Q6IAZ4	Silent	SNP	ENST00000372070.3	37	c.477G>T	CCDS523.1																																																																																				0.562	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		4	27	1	0	0.00909568	0.009096	0.00922114	4	27				
CYP4A11	1579	broad.mit.edu	37	1	47400757	47400757	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:47400757G>T	ENST00000310638.4	-	6	736	c.705C>A	c.(703-705)gcC>gcA	p.A235A	CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000371904.4_Silent_p.A235A|CYP4A11_ENST00000371905.1_Silent_p.A235A	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	235					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TCTGGTGAAAGGCATTCCTCA	0.532																																							uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(703-705)GCC>GCA		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						156.0	146.0	149.0					1																	47400757		2203	4300	6503	SO:0001819	synonymous_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47400757G>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.705C>A	1.37:g.47400757G>T						CYP4A11_uc001cqq.2_Silent_p.A235A|CYP4A11_uc010omm.1_Intron	p.A235A	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			6	756	-			235					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	c.705C>A	CCDS543.1																																																																																				0.532	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		26	87	1	0	4.72057e-08	0.003954	5.71131e-08	26	87				
LRRC40	55631	broad.mit.edu	37	1	70611486	70611486	+	Silent	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:70611486A>C	ENST00000370952.3	-	15	1885	c.1806T>G	c.(1804-1806)acT>acG	p.T602T		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	602						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CTCCATGTTAAGTAGGAATTC	0.358																																							uc001der.1		NA																	0				ovary(1)	1						c.(1804-1806)ACT>ACG		leucine rich repeat containing 40							94.0	91.0	92.0					1																	70611486		2203	4300	6503	SO:0001819	synonymous_variant	55631							g.chr1:70611486A>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1806T>G	1.37:g.70611486A>C							p.T602T	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			15	1858	-			602					Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	ENST00000370952.3	37	c.1806T>G	CCDS646.1																																																																																				0.358	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		11	26	0	0	0	0.001855	0	11	26				
LRRIQ3	127255	broad.mit.edu	37	1	74507613	74507613	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:74507613C>A	ENST00000395089.1	-	6	1001	c.1002G>T	c.(1000-1002)caG>caT	p.Q334H	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.Q334H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	334										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTCAGACTCCTGACCTACAT	0.299																																							uc001dfy.3		NA																	0				ovary(2)	2						c.(1000-1002)CAG>CAT		leucine-rich repeats and IQ motif containing 3							29.0	30.0	30.0					1																	74507613		1792	3927	5719	SO:0001583	missense	127255							g.chr1:74507613C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1002G>T	1.37:g.74507613C>A	ENSP00000378524:p.Gln334His					LRRIQ3_uc001dfz.3_RNA	p.Q334H	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1194	-			334					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1002G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934953	0.34189	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.09911	2.93;2.93	5.4	-2.1	0.07210	.	0.000000	0.38605	N	0.001639	T	0.01661	0.0053	L	0.27053	0.805	0.09310	N	0.999998	B	0.18013	0.025	B	0.17722	0.019	T	0.39761	-0.9598	10	0.52906	T	0.07	.	1.3036	0.02084	0.1536:0.253:0.1504:0.4431	.	334	A6PVS8	LRIQ3_HUMAN	H	334	ENSP00000378524:Q334H;ENSP00000346414:Q334H	ENSP00000346414:Q334H	Q	-	3	2	LRRIQ3	74280201	0.022000	0.18835	0.149000	0.22428	0.051000	0.14879	-0.348000	0.07740	-0.045000	0.13468	-0.143000	0.13931	CAG		0.299	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	16	1	0	0.000274275	0.004482	0.000289021	9	16				
VAV3	10451	broad.mit.edu	37	1	108185324	108185324	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:108185324G>T	ENST00000370056.4	-	20	2105	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M	VAV3_ENST00000527011.1_Missense_Mutation_p.L611M|VAV3_ENST00000544443.1_Missense_Mutation_p.L15M|VAV3_ENST00000415432.2_Missense_Mutation_p.L51M|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	611	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCTTCATGCAGAGCTGGGGGT	0.458																																							uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(1831-1833)CTG>ATG		vav 3 guanine nucleotide exchange factor isoform							122.0	117.0	119.0					1																	108185324		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108185324G>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1831C>A	1.37:g.108185324G>T	ENSP00000359073:p.Leu611Met					VAV3_uc010ouu.1_Missense_Mutation_p.L15M|VAV3_uc001dvj.1_Missense_Mutation_p.L51M|VAV3_uc010ouv.1_Missense_Mutation_p.L15M|VAV3_uc010ouw.1_Missense_Mutation_p.L611M	p.L611M	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	20	1885	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	611			SH3 1.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.1831C>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850903	0.17034	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	T;T;T;T	0.61040	0.14;0.14;1.56;1.83	5.14	5.14	0.70334	Src homology-3 domain (3);Variant SH3 (1);	0.523268	0.19239	N	0.119203	T	0.33323	0.0859	N	0.22421	0.69	0.23043	N	0.998382	B;P;B;P	0.37176	0.295;0.586;0.173;0.545	B;B;B;B	0.42495	0.22;0.389;0.192;0.066	T	0.20174	-1.0283	10	0.33141	T	0.24	.	13.9149	0.63890	0.0:0.2575:0.7425:0.0	.	611;15;611;51	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	M	611;611;15;51	ENSP00000359073:L611M;ENSP00000432540:L611M;ENSP00000446404:L15M;ENSP00000394897:L51M	ENSP00000359073:L611M	L	-	1	2	VAV3	107986847	0.205000	0.23458	0.772000	0.31596	0.800000	0.45204	2.430000	0.44766	2.682000	0.91365	0.555000	0.69702	CTG		0.458	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		37	93	1	0	2.05212e-20	0.005524	3.48742e-20	37	93				
FLG	2312	broad.mit.edu	37	1	152284875	152284876	+	Nonsense_Mutation	DNP	GG	GG	TT	rs139207952	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:152284875_152284876GG>TT	ENST00000368799.1	-	3	2521_2522	c.2486_2487CC>AA	c.(2485-2487)tCC>tAA	p.S829*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	829	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGCCTGGAGTTGTCTCG	0.569									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2485-2487)TCC>TAA		filaggrin																																				SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284875_152284876GG>TT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2486_2487delinsTT	1.37:g.152284875_152284876delinsTT	ENSP00000357789:p.Ser829*					uc001ezv.2_5'Flank	p.S829*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2522_2523	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		829			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	DNP	ENST00000368799.1	37	c.2486_2487CC>AA	CCDS30860.1																																																																																				0.569	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		160	296	0	0	0	0.004672	0	160	296				
LMNA	4000	broad.mit.edu	37	1	156084745	156084745	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:156084745C>T	ENST00000368300.4	+	1	248	c.36C>T	c.(34-36)agC>agT	p.S12S	LMNA_ENST00000368299.3_Silent_p.S12S|LMNA_ENST00000368301.2_Silent_p.S12S|LMNA_ENST00000361308.4_Silent_p.S12S|LMNA_ENST00000347559.2_Silent_p.S12S	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	12	Head.|Interaction with MLIP.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CCACCCGCAGCGGGGCGCAGG	0.736									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																														uc001fni.2		NA																	0				ovary(2)	2						c.(34-36)AGC>AGT		lamin A/C isoform 1 precursor							12.0	12.0	12.0					1																	156084745		2161	4220	6381	SO:0001819	synonymous_variant	4000	Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity	g.chr1:156084745C>T	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.36C>T	1.37:g.156084745C>T						LMNA_uc001fnf.1_Silent_p.S12S|LMNA_uc001fng.2_Silent_p.S12S|LMNA_uc001fnh.2_Silent_p.S12S|LMNA_uc009wro.1_Silent_p.S12S	p.S12S	NM_170707	NP_733821	P02545	LMNA_HUMAN			1	285	+	Hepatocellular(266;0.158)		12			Interaction with MLIP.|Head.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	c.36C>T	CCDS1129.1																																																																																				0.736	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		15	10	0	0	0	0.00499	0	15	10				
CD1E	913	broad.mit.edu	37	1	158324171	158324171	+	Silent	SNP	C	C	A	rs183265310	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158324171C>A	ENST00000368167.3	+	2	302	c.63C>A	c.(61-63)ccC>ccA	p.P21P	CD1E_ENST00000368161.3_Silent_p.P21P|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Silent_p.P21P|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368155.3_Silent_p.P21P|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368163.3_Silent_p.P21P|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Silent_p.P21P|CD1E_ENST00000434258.1_Silent_p.P19P|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.P21P	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	21					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTCAGCTCCCCAGGCTCTAC	0.502																																							uc001fse.2		NA																	0				skin(3)	3						c.(61-63)CCC>CCA		CD1E antigen isoform a precursor							148.0	147.0	147.0					1																	158324171		2048	4217	6265	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324171C>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.63C>A	1.37:g.158324171C>A						CD1E_uc010pid.1_Silent_p.P19P|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.P21P|CD1E_uc001fsk.2_Silent_p.P21P|CD1E_uc001fsj.2_Silent_p.P21P|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.P21P|CD1E_uc001fry.2_Silent_p.P21P|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.P21P|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Silent_p.P21P|CD1E_uc009wsw.2_5'Flank	p.P21P	NM_030893	NP_112155	P15812	CD1E_HUMAN			2	302	+	all_hematologic(112;0.0378)		21					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.63C>A	CCDS41417.1																																																																																				0.502	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		94	98	1	0	1.76403e-45	0.00361	3.22126e-45	94	98				
SPTA1	6708	broad.mit.edu	37	1	158605732	158605732	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158605732C>G	ENST00000368147.4	-	38	5583	c.5403G>C	c.(5401-5403)tgG>tgC	p.W1801C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1801					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.W1801C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTCTCCCAGTGTTCAA	0.522																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5401-5403)TGG>TGC		spectrin, alpha, erythrocytic 1							96.0	100.0	98.0					1																	158605732		1950	4145	6095	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605732C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5403G>C	1.37:g.158605732C>G	ENSP00000357129:p.Trp1801Cys						p.W1801C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			38	5602	-	all_hematologic(112;0.0378)		1801			Spectrin 17.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5403G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087322	0.76642	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68903	-0.36;-0.36	5.65	5.65	0.86999	.	0.000000	0.30410	N	0.009696	D	0.84999	0.5597	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87097	0.2176	10	0.72032	D	0.01	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	1801	P02549	SPTA1_HUMAN	C	1801	ENSP00000357130:W1801C;ENSP00000357129:W1801C	ENSP00000357129:W1801C	W	-	3	0	SPTA1	156872356	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.106000	0.77039	2.941000	0.99782	0.655000	0.94253	TGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		108	86	0	0	0	0.00361	0	108	86				
OR6K6	128371	broad.mit.edu	37	1	158725228	158725228	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158725228A>T	ENST00000368144.2	+	1	719	c.623A>T	c.(622-624)gAt>gTt	p.D208V		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATATTCTGTGATTTCACACCT	0.498																																							uc001fsw.1		NA																	0				skin(1)	1						c.(622-624)GAT>GTT		olfactory receptor, family 6, subfamily K,							120.0	101.0	108.0					1																	158725228		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725228A>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.623A>T	1.37:g.158725228A>T	ENSP00000357126:p.Asp208Val						p.D208V	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	623	+	all_hematologic(112;0.0378)		208			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.623A>T	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118190	0.77323	.	.	ENSG00000180433	ENST00000368144	T	0.00193	8.58	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000295	T	0.00552	0.0018	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48328	-0.9045	10	0.87932	D	0	-17.09	14.6756	0.68978	1.0:0.0:0.0:0.0	.	208	Q8NGW6	OR6K6_HUMAN	V	208	ENSP00000357126:D208V	ENSP00000357126:D208V	D	+	2	0	OR6K6	156991852	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.915000	0.92740	2.297000	0.77311	0.533000	0.62120	GAT		0.498	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		16	81	0	0	0	0.003163	0	16	81				
MNDA	4332	broad.mit.edu	37	1	158815601	158815601	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158815601C>A	ENST00000368141.4	+	5	1056	c.795C>A	c.(793-795)gtC>gtA	p.V265V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	265	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGAAGGTCATTACCATAT	0.353																																							uc001fsz.1		NA																	0				ovary(2)|skin(2)	4						c.(793-795)GTC>GTA		myeloid cell nuclear differentiation antigen							82.0	85.0	84.0					1																	158815601		2203	4300	6503	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815601C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.795C>A	1.37:g.158815601C>A							p.V265V	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	995	+	all_hematologic(112;0.0378)		265			HIN-200.			Silent	SNP	ENST00000368141.4	37	c.795C>A	CCDS1177.1																																																																																				0.353	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		45	41	1	0	6.57855e-14	0.009718	9.71906e-14	45	41				
OR10J1	26476	broad.mit.edu	37	1	159410229	159410229	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:159410229T>C	ENST00000423932.3	+	1	718	c.681T>C	c.(679-681)tcT>tcC	p.S227S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	227					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTTTCATTTCTTATGTTCTCA	0.453																																							uc010piv.1		NA																	0				ovary(1)	1						c.(679-681)TCT>TCC		olfactory receptor, family 10, subfamily J,							272.0	252.0	259.0					1																	159410229		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410229T>C	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.681T>C	1.37:g.159410229T>C						uc001fts.3_Intron	p.S227S	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	681	+	all_hematologic(112;0.0429)		227			Helical; Name=5; (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.681T>C	CCDS1185.1																																																																																				0.453	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		36	139	0	0	0	0.004289	0	36	139				
F5	2153	broad.mit.edu	37	1	169519078	169519078	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:169519078T>A	ENST00000367797.3	-	10	1773	c.1572A>T	c.(1570-1572)ctA>ctT	p.L524L	F5_ENST00000546081.1_3'UTR|F5_ENST00000367796.3_Silent_p.L524L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	524	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTTACAGATTAGAAGTAGTC	0.428																																							uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1570-1572)CTA>CTT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						142.0	131.0	135.0					1																	169519078		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519078T>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1572A>T	1.37:g.169519078T>A						F5_uc010plr.1_RNA	p.L524L	NM_000130	NP_000121	P12259	FA5_HUMAN			10	1717	-	all_hematologic(923;0.208)		524			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.1572A>T	CCDS1281.1																																																																																				0.428	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		18	89	0	0	0	0.008871	0	18	89				
RGL1	23179	broad.mit.edu	37	1	183881336	183881336	+	Silent	SNP	G	G	C	rs199702533		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:183881336G>C	ENST00000360851.3	+	15	1861	c.1683G>C	c.(1681-1683)tcG>tcC	p.S561S	RGL1_ENST00000536277.1_Silent_p.S559S|RGL1_ENST00000539189.1_Silent_p.S532S|RGL1_ENST00000304685.4_Silent_p.S596S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	561	Ser-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCTGCGAGTCGAACCACTCAG	0.532																																							uc001gqo.2		NA																	0				breast(5)|ovary(4)|lung(2)	11						c.(1681-1683)TCG>TCC		ral guanine nucleotide dissociation							83.0	74.0	77.0					1																	183881336		2203	4300	6503	SO:0001819	synonymous_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183881336G>C	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1683G>C	1.37:g.183881336G>C						RGL1_uc010pof.1_Silent_p.S366S|RGL1_uc001gqm.2_Silent_p.S596S|RGL1_uc010pog.1_Silent_p.S559S|RGL1_uc010poh.1_Silent_p.S559S|RGL1_uc010poi.1_Silent_p.S532S	p.S561S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			15	1840	+			561			Ser-rich.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.1683G>C																																																																																					0.532	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		19	55	0	0	0	0.008871	0	19	55				
TRMT1L	81627	broad.mit.edu	37	1	185109211	185109211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:185109211C>A	ENST00000367506.5	-	8	1271	c.1003G>T	c.(1003-1005)Gaa>Taa	p.E335*	TRMT1L_ENST00000367504.3_Nonsense_Mutation_p.E179*	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	335	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCACTCTTTTCCTTTTCCTTA	0.343																																							uc001grf.3		NA																	0					0						c.(1003-1005)GAA>TAA		N2,N2-dimethylguanosine tRNA							173.0	161.0	165.0					1																	185109211		2203	4299	6502	SO:0001587	stop_gained	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185109211C>A	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1003G>T	1.37:g.185109211C>A	ENSP00000356476:p.Glu335*					C1orf25_uc010pon.1_Nonsense_Mutation_p.E179*	p.E335*	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			8	1275	-			335					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Nonsense_Mutation	SNP	ENST00000367506.5	37	c.1003G>T	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	41	8.656378	0.98903	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.82	2.98	0.34508	.	0.452567	0.25083	N	0.033263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-0.8248	8.0763	0.30718	0.0:0.7579:0.0:0.2421	.	.	.	.	X	179;335	.	ENSP00000356474:E179X	E	-	1	0	TRMT1L	183375834	0.878000	0.30173	0.000000	0.03702	0.461000	0.32589	2.158000	0.42329	0.393000	0.25203	0.467000	0.42956	GAA		0.343	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		24	117	1	0	1.85244e-09	0.00333	2.38867e-09	24	117				
TMEM81	388730	broad.mit.edu	37	1	205053097	205053097	+	Missense_Mutation	SNP	G	G	C	rs145019132	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:205053097G>C	ENST00000367167.3	-	1	548	c.352C>G	c.(352-354)Cgg>Ggg	p.R118G		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	118	Ig-like.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CAGGTGAACCGGAAAGCTTCC	0.468																																							uc001hbt.2		NA																	0					0						c.(352-354)CGG>GGG		transmembrane protein 81 precursor							86.0	89.0	88.0					1																	205053097		2203	4300	6503	SO:0001583	missense	388730					integral to membrane		g.chr1:205053097G>C	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.352C>G	1.37:g.205053097G>C	ENSP00000356135:p.Arg118Gly						p.R118G	NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	492	-	all_cancers(21;0.144)|Breast(84;0.0437)		118			Ig-like.|Extracellular (Potential).		Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	37	c.352C>G	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655902	0.67586	.	.	ENSG00000174529	ENST00000367167	T	0.42513	0.97	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.219096	0.39909	N	0.001238	T	0.49966	0.1588	M	0.69823	2.125	0.34806	D	0.737198	P	0.51537	0.946	P	0.51324	0.666	T	0.55903	-0.8067	10	0.13470	T	0.59	-10.131	12.6983	0.57016	0.0:0.0:0.795:0.205	.	118	Q6P7N7	TMM81_HUMAN	G	118	ENSP00000356135:R118G	ENSP00000356135:R118G	R	-	1	2	TMEM81	203319720	0.984000	0.35163	0.999000	0.59377	0.976000	0.68499	1.851000	0.39338	2.779000	0.95612	0.591000	0.81541	CGG		0.468	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		24	79	0	0	0	0.00333	0	24	79				
DYRK3	8444	broad.mit.edu	37	1	206820932	206820932	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:206820932A>G	ENST00000367109.2	+	3	557	c.389A>G	c.(388-390)aAc>aGc	p.N130S	DYRK3_ENST00000367108.3_Missense_Mutation_p.N110S|DYRK3_ENST00000367106.1_Missense_Mutation_p.N110S|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	130					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTAAAATCCAACAGTTCATCC	0.418																																					Melanoma(164;427 2622 26826 51707)	Melanoma(164;427 2622 26826 51707)	uc001hej.2		NA																	0				stomach(2)|central_nervous_system(1)	3						c.(388-390)AAC>AGC		dual-specificity tyrosine-(Y)-phosphorylation							86.0	86.0	86.0					1																	206820932		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206820932A>G	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.389A>G	1.37:g.206820932A>G	ENSP00000356076:p.Asn130Ser					DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.N110S	p.N130S	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	557	+	Breast(84;0.183)		130					D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.389A>G	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.512476	0.00010	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000441486;ENST00000367106	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	4.88	-1.61	0.08399	.	0.765946	0.13472	N	0.385321	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32375	-0.9909	10	0.05721	T	0.95	.	9.6409	0.39839	0.3719:0.0:0.6281:0.0	.	130;110	O43781;O43781-2	DYRK3_HUMAN;.	S	130;110;110;110	ENSP00000356076:N130S;ENSP00000356075:N110S;ENSP00000410187:N110S;ENSP00000356073:N110S	ENSP00000356073:N110S	N	+	2	0	DYRK3	204887555	0.097000	0.21791	0.066000	0.19879	0.019000	0.09904	0.985000	0.29578	-0.250000	0.09555	-1.465000	0.01017	AAC		0.418	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		30	155	0	0	0	0.00632	0	30	155				
USH2A	7399	broad.mit.edu	37	1	215960025	215960025	+	Silent	SNP	C	C	A	rs137963595	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:215960025C>A	ENST00000307340.3	-	52	10760	c.10374G>T	c.(10372-10374)acG>acT	p.T3458T	USH2A_ENST00000366943.2_Silent_p.T3458T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3458	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)		TGTAAGAGTACGTGTTTACAC	0.433										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10372-10374)ACG>ACT		usherin isoform B							173.0	141.0	152.0					1																	215960025		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:215960025C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10374G>T	1.37:g.215960025C>A		HNSCC(13;0.011)					p.T3458T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10761	-			3458			Fibronectin type-III 19.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.10374G>T	CCDS31025.1																																																																																				0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	59	1	0	0.000274275	0.004482	0.000289021	9	59				
EPHX1	2052	broad.mit.edu	37	1	226030140	226030140	+	Silent	SNP	G	G	T	rs370216081		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:226030140G>T	ENST00000366837.4	+	7	1201	c.1005G>T	c.(1003-1005)acG>acT	p.T335T	EPHX1_ENST00000272167.5_Silent_p.T335T|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	335					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGACCAATACGGAATTCCGAT	0.582																																							uc001hpk.2		NA																	0				ovary(3)|lung(1)	4						c.(1003-1005)ACG>ACT		epoxide hydrolase 1							116.0	127.0	124.0					1																	226030140		2203	4300	6503	SO:0001819	synonymous_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226030140G>T	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1005G>T	1.37:g.226030140G>T						EPHX1_uc001hpl.2_Silent_p.T335T	p.T335T	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			7	1085	+	Breast(184;0.197)		335					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	c.1005G>T	CCDS1547.1																																																																																				0.582	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		23	51	1	0	1.77063e-15	0.005443	2.69723e-15	23	51				
URB2	9816	broad.mit.edu	37	1	229772385	229772385	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:229772385A>G	ENST00000258243.2	+	4	2161	c.2025A>G	c.(2023-2025)gaA>gaG	p.E675E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	675						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTGCTTAGAACAGCTGTACC	0.433																																							uc001hts.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2023-2025)GAA>GAG		URB2 ribosome biogenesis 2 homolog							156.0	167.0	163.0					1																	229772385		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229772385A>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2025A>G	1.37:g.229772385A>G						URB2_uc009xfd.1_Silent_p.E675E	p.E675E	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	2161	+			675					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.2025A>G	CCDS31052.1																																																																																				0.433	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		40	139	0	0	0	0.005524	0	40	139				
RYR2	6262	broad.mit.edu	37	1	237802491	237802491	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:237802491A>T	ENST00000366574.2	+	46	7422	c.7105A>T	c.(7105-7107)Agt>Tgt	p.S2369C	RYR2_ENST00000360064.6_Missense_Mutation_p.S2367C|RYR2_ENST00000542537.1_Missense_Mutation_p.S2353C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2369	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGCGGATCCAGTAAAACACT	0.423																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7105-7107)AGT>TGT		cardiac muscle ryanodine receptor							66.0	65.0	65.0					1																	237802491		1909	4110	6019	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802491A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7105A>T	1.37:g.237802491A>T	ENSP00000355533:p.Ser2369Cys						p.S2369C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		46	7225	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2369			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7105A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.397962	0.62177	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97924	-4.61;-4.61;-4.61	5.35	3.07	0.35406	.	0.067313	0.56097	D	0.000040	D	0.93223	0.7841	N	0.19112	0.55	0.80722	D	1	P	0.36027	0.533	B	0.35240	0.198	D	0.91334	0.5092	10	0.66056	D	0.02	.	9.0984	0.36653	0.8513:0.0:0.1487:0.0	.	2369	Q92736	RYR2_HUMAN	C	2369;2367;2353	ENSP00000355533:S2369C;ENSP00000353174:S2367C;ENSP00000443798:S2353C	ENSP00000353174:S2367C	S	+	1	0	RYR2	235869114	1.000000	0.71417	0.966000	0.40874	0.852000	0.48524	2.624000	0.46444	0.877000	0.35895	0.459000	0.35465	AGT		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	24	0	0	0	0.004482	0	8	24				
MAP1LC3C	440738	broad.mit.edu	37	1	242159549	242159549	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:242159549G>T	ENST00000357246.3	-	4	424	c.360C>A	c.(358-360)gcC>gcA	p.A120A		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	120					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTCCTGGGAGGCGTAGGTCA	0.567																																							uc001hzk.2		NA																	0				ovary(1)	1						c.(358-360)GCC>GCA		microtubule-associated protein 1 light chain 3							162.0	143.0	149.0					1																	242159549		2203	4300	6503	SO:0001819	synonymous_variant	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159549G>T	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.360C>A	1.37:g.242159549G>T							p.A120A	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	435	-			120					A0PJY8|A2RUP0	Silent	SNP	ENST00000357246.3	37	c.360C>A	CCDS31074.1																																																																																				0.567	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		24	59	1	0	3.6726e-16	0.003954	5.68287e-16	24	59				
ZNF695	57116	broad.mit.edu	37	1	247163244	247163244	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:247163244C>A	ENST00000339986.7	-	2	283	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	ZNF695_ENST00000487338.2_Missense_Mutation_p.D46Y|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	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;0.00271)			TTGAAGCTATCCTCACCAAGG	0.418																																							uc009xgu.2		NA																	0					0						c.(136-138)GAT>TAT		zinc finger protein SBZF3							70.0	75.0	73.0					1																	247163244		2188	4294	6482	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247163244C>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.136G>T	1.37:g.247163244C>A	ENSP00000341236:p.Asp46Tyr					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.D46Y|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Intron	p.D46Y	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		2	281	-	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)	46			KRAB.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.136G>T	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209852	0.01555	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.00768	5.72;5.72	0.588	0.588	0.17445	Krueppel-associated box (3);	.	.	.	.	T	0.01940	0.0061	L	0.47190	1.495	0.23050	N	0.998377	D;D	0.76494	0.972;0.999	P;D	0.72982	0.861;0.979	T	0.52786	-0.8529	8	0.19590	T	0.45	.	.	.	.	.	46;46	Q8IW36;Q8IW36-1	ZN695_HUMAN;.	Y	46	ENSP00000429736:D46Y;ENSP00000341236:D46Y	ENSP00000341236:D46Y	D	-	1	0	ZNF695	245229867	0.950000	0.32346	0.640000	0.29408	0.054000	0.15201	1.382000	0.34374	0.536000	0.28733	0.195000	0.17529	GAT		0.418	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		10	46	1	0	3.07112e-06	0.010729	3.48613e-06	10	46				
OR2M5	127059	broad.mit.edu	37	1	248308584	248308584	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:248308584G>C	ENST00000366476.1	+	1	135	c.135G>C	c.(133-135)atG>atC	p.M45I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTCTGTCATGGTTCTCCTCA	0.527																																							uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(133-135)ATG>ATC		olfactory receptor, family 2, subfamily M,							282.0	270.0	274.0					1																	248308584		2203	4297	6500	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308584G>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.135G>C	1.37:g.248308584G>C	ENSP00000355432:p.Met45Ile						p.M45I	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	135	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		45			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.135G>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	2.291	-0.362488	0.05103	.	.	ENSG00000162727	ENST00000366476	T	0.00522	6.84	3.28	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.197165	0.24703	U	0.036283	T	0.00271	0.0008	N	0.15975	0.35	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.46005	-0.9222	10	0.42905	T	0.14	.	3.4123	0.07363	0.4312:0.2023:0.3665:0.0	.	45	A3KFT3	OR2M5_HUMAN	I	45	ENSP00000355432:M45I	ENSP00000355432:M45I	M	+	3	0	OR2M5	246375207	0.000000	0.05858	0.029000	0.17559	0.073000	0.16967	-1.673000	0.01951	0.475000	0.27415	0.492000	0.49549	ATG		0.527	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		96	223	0	0	0	0.00361	0	96	223				
LARP4B	23185	broad.mit.edu	37	10	863720	863720	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:863720T>A	ENST00000316157.3	-	14	1680	c.1640A>T	c.(1639-1641)gAg>gTg	p.E547V	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	547					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AAACAAGTCCTCTGTCTTCAA	0.493																																							uc001ifs.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1639-1641)GAG>GTG		La ribonucleoprotein domain family, member 4B							195.0	210.0	205.0					10																	863720		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:863720T>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1640A>T	10.37:g.863720T>A	ENSP00000326128:p.Glu547Val						p.E547V	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			14	1681	-			547					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1640A>T	CCDS31131.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	28.6|28.6|28.6	4.931845|4.931845|4.931845	0.92389|0.92389|0.92389	.|.|.	.|.|.	ENSG00000107929|ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000448368|ENST00000440895	T|.|.	0.51325|.|.	0.71|.|.	6.11|6.11|6.11	6.11|6.11|6.11	0.99139|0.99139|0.99139	.|.|.	0.044204|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.71525|0.71525|0.71525	0.3350|0.3350|0.3350	L|L|L	0.58510|0.58510|0.58510	1.815|1.815|1.815	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.76494|.|.	0.999|.|.	D|.|.	0.64506|.|.	0.926|.|.	T|T|T	0.69247|0.69247|0.69247	-0.5195|-0.5195|-0.5195	10|5|5	0.87932|.|.	D|.|.	0|.|.	-5.4044|-5.4044|-5.4044	16.7021|16.7021|16.7021	0.85357|0.85357|0.85357	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	547|.|.	Q92615|.|.	LAR4B_HUMAN|.|.	V|S|W	547|112|23	ENSP00000326128:E547V|.|.	ENSP00000326128:E547V|.|.	E|R|R	-|-|-	2|3|1	0|2|2	LARP4B|LARP4B|LARP4B	853720|853720|853720	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.895000|0.895000|0.895000	0.52256|0.52256|0.52256	7.520000|7.520000|7.520000	0.81821|0.81821|0.81821	2.343000|2.343000|2.343000	0.79666|0.79666|0.79666	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAG|AGA|AGG		0.493	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		57	174	0	0	0	0.00361	0	57	174				
FAM171A1	221061	broad.mit.edu	37	10	15255495	15255495	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:15255495C>G	ENST00000378116.4	-	8	2098	c.2092G>C	c.(2092-2094)Ggt>Cgt	p.G698R	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	698						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCTTCCCACCCCCAAGCTCC	0.582																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2092-2094)GGT>CGT		hypothetical protein LOC221061 precursor							54.0	59.0	57.0					10																	15255495		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255495C>G	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2092G>C	10.37:g.15255495C>G	ENSP00000367356:p.Gly698Arg						p.G698R	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	2099	-			698			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2092G>C	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192619	0.78902	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.32272	1.46	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20174	-1.0283	10	0.07482	T	0.82	-23.2958	19.0487	0.93032	0.0:1.0:0.0:0.0	.	698	Q5VUB5	F1711_HUMAN	R	698;697	ENSP00000367356:G698R	ENSP00000367356:G698R	G	-	1	0	FAM171A1	15295501	1.000000	0.71417	0.869000	0.34112	0.976000	0.68499	7.651000	0.83577	2.724000	0.93272	0.563000	0.77884	GGT		0.582	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		29	73	0	0	0	0.008361	0	29	73				
KIAA1462	57608	broad.mit.edu	37	10	30336510	30336510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:30336510C>A	ENST00000375377.1	-	2	333	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	78					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCCCGTGGCCTCTCGGTGTG	0.612																																							uc001iux.2		NA																	0				ovary(4)	4						c.(232-234)GGC>TGC		hypothetical protein LOC57608							37.0	43.0	41.0					10																	30336510		1960	4140	6100	SO:0001583	missense	57608							g.chr10:30336510C>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.232G>T	10.37:g.30336510C>A	ENSP00000364526:p.Gly78Cys					KIAA1462_uc001iuy.2_Missense_Mutation_p.G78C|KIAA1462_uc001iuz.2_Translation_Start_Site|KIAA1462_uc009xle.1_Missense_Mutation_p.G78C	p.G78C	NM_020848	NP_065899	Q9P266	K1462_HUMAN			1	291	-			78					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.232G>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156406	0.57259	.	.	ENSG00000165757	ENST00000375377	T	0.12361	2.69	5.06	-1.23	0.09465	.	1.682530	0.03156	N	0.168632	T	0.25901	0.0631	L	0.54323	1.7	0.09310	N	1	D	0.69078	0.997	P	0.60473	0.875	T	0.20605	-1.0270	10	0.41790	T	0.15	-0.3047	5.0638	0.14572	0.0:0.4076:0.2797:0.3126	.	78	Q9P266	K1462_HUMAN	C	78	ENSP00000364526:G78C	ENSP00000364526:G78C	G	-	1	0	KIAA1462	30376516	0.820000	0.29190	0.000000	0.03702	0.201000	0.24016	1.672000	0.37523	-0.044000	0.13491	0.467000	0.42956	GGC		0.612	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		8	52	1	0	0.000157383	0.00308	0.000168871	8	52				
JMJD1C	221037	broad.mit.edu	37	10	64967073	64967073	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:64967073G>A	ENST00000399262.2	-	10	4574	c.4356C>T	c.(4354-4356)acC>acT	p.T1452T	JMJD1C_ENST00000399251.1_Silent_p.T1233T|JMJD1C_ENST00000542921.1_Silent_p.T1270T|JMJD1C_ENST00000402544.1_Silent_p.T1233T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1452					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGGTGCTGTGGTGCTGACCT	0.408																																							uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(4354-4356)ACC>ACT		jumonji domain containing 1C isoform a							115.0	118.0	117.0					10																	64967073		2042	4206	6248	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967073G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4356C>T	10.37:g.64967073G>A						JMJD1C_uc001jml.2_Silent_p.T1233T|JMJD1C_uc001jmm.2_Silent_p.T1164T|JMJD1C_uc010qiq.1_Silent_p.T1270T|JMJD1C_uc009xpi.2_Silent_p.T1270T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.T489T	p.T1452T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	4656	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1452					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.4356C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	2.434	-0.330233	0.05314	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.86	3.95	0.45737	.	.	.	.	.	T	0.57784	0.2077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52631	-0.8550	4	.	.	.	-1.2407	7.7561	0.28925	0.1637:0.1344:0.7019:0.0	.	.	.	.	L	138	.	.	P	-	2	0	JMJD1C	64637079	0.890000	0.30428	0.999000	0.59377	0.953000	0.61014	0.929000	0.28844	0.756000	0.33013	0.591000	0.81541	CCA		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		44	101	0	0	0	0.011902	0	44	101				
LDB3	11155	broad.mit.edu	37	10	88477783	88477783	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:88477783G>C	ENST00000361373.4	+	10	1760	c.1739G>C	c.(1738-1740)tGc>tCc	p.C580S	LDB3_ENST00000352360.5_Missense_Mutation_p.C323S|LDB3_ENST00000429277.2_Missense_Mutation_p.C585S|LDB3_ENST00000458213.2_Missense_Mutation_p.C470S|LDB3_ENST00000263066.6_Missense_Mutation_p.C470S	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGTGCCTACTGCAAGACTTCC	0.547																																							uc001kdv.2		NA																	0				ovary(1)	1						c.(1738-1740)TGC>TCC		LIM domain binding 3 isoform 1							150.0	133.0	139.0					10																	88477783		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88477783G>C	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1739G>C	10.37:g.88477783G>C	ENSP00000355296:p.Cys580Ser					LDB3_uc010qmm.1_Missense_Mutation_p.C585S|LDB3_uc001kdu.2_Missense_Mutation_p.C470S|LDB3_uc009xsz.2_Missense_Mutation_p.C209S|LDB3_uc009xta.1_5'Flank	p.C580S	NM_007078	NP_009009	O75112	LDB3_HUMAN			10	1762	+			580			LIM zinc-binding 1.			Missense_Mutation	SNP	ENST00000361373.4	37	c.1739G>C	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903102	0.92035	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61	5.64	5.64	0.86602	Zinc finger, LIM-type (4);	0.000000	0.35207	N	0.003361	D	0.99945	0.9976	H	0.99609	4.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	D	0.95961	0.8962	10	0.87932	D	0	.	19.7154	0.96115	0.0:0.0:1.0:0.0	.	585;323;580;470	B4E3K3;O75112-3;O75112;O75112-2	.;.;LDB3_HUMAN;.	S	501;585;470;323;470;580	ENSP00000401437:C585S;ENSP00000409148:C470S;ENSP00000263067:C323S;ENSP00000263066:C470S;ENSP00000355296:C580S	ENSP00000263066:C470S	C	+	2	0	LDB3	88467763	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.664000	0.90586	0.655000	0.94253	TGC		0.547	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			26	64	0	0	0	0.003954	0	26	64				
BTAF1	9044	broad.mit.edu	37	10	93743990	93743990	+	Silent	SNP	G	G	T	rs139800193		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:93743990G>T	ENST00000265990.6	+	19	2564	c.2256G>T	c.(2254-2256)ccG>ccT	p.P752P	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	752					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)			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)				CTGTGCAGCCGCGTTTACTTG	0.338																																							uc001khr.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2254-2256)CCG>CCT		BTAF1 RNA polymerase II, B-TFIID transcription							107.0	99.0	102.0					10																	93743990		2202	4299	6501	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93743990G>T	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.2256G>T	10.37:g.93743990G>T						BTAF1_uc001khs.1_Silent_p.P422P|BTAF1_uc001kht.1_Silent_p.P190P	p.P752P	NM_003972	NP_003963	O14981	BTAF1_HUMAN			19	2354	+		Colorectal(252;0.0846)	752					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.2256G>T	CCDS7419.1																																																																																				0.338	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		10	37	1	0	7.48243e-07	0.006214	8.695e-07	10	37				
KIF11	3832	broad.mit.edu	37	10	94381209	94381209	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:94381209A>G	ENST00000260731.3	+	10	1286	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	399					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATGGAGTGTATATTTCTGAA	0.373																																					Colon(47;212 1003 2764 4062 8431)	Colon(47;212 1003 2764 4062 8431)	uc001kic.2		NA																	0				skin(1)	1						c.(1195-1197)TAT>TGT		kinesin family member 11							116.0	118.0	117.0					10																	94381209		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94381209A>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1196A>G	10.37:g.94381209A>G	ENSP00000260731:p.Tyr399Cys					KIF11_uc010qnq.1_Intron	p.Y399C	NM_004523	NP_004514	P52732	KIF11_HUMAN			10	1504	+			399			Potential.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1196A>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398689	0.83120	.	.	ENSG00000138160	ENST00000260731	T	0.75704	-0.96	5.0	5.0	0.66597	.	0.071989	0.56097	D	0.000021	D	0.87529	0.6200	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89797	0.3972	10	0.72032	D	0.01	.	14.7379	0.69430	1.0:0.0:0.0:0.0	.	399	P52732	KIF11_HUMAN	C	399	ENSP00000260731:Y399C	ENSP00000260731:Y399C	Y	+	2	0	KIF11	94371189	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.666000	0.91149	1.879000	0.54435	0.397000	0.26171	TAT		0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		24	65	0	0	0	0.003954	0	24	65				
CYP2C19	1557	broad.mit.edu	37	10	96522526	96522526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:96522526C>T	ENST00000371321.3	+	1	146	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	22					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATCTGGAGACAGAGCTCTGG	0.458																																							uc010qnz.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(64-66)CAG>TAG		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						197.0	190.0	193.0					10																	96522526		2203	4300	6503	SO:0001587	stop_gained	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96522526C>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.64C>T	10.37:g.96522526C>T	ENSP00000360372:p.Gln22*					CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron	p.Q22*	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	1	64	+		Colorectal(252;0.09)	22					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Nonsense_Mutation	SNP	ENST00000371321.3	37	c.64C>T	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231450	0.58777	.	.	ENSG00000165841	ENST00000371321	.	.	.	4.15	1.88	0.25563	.	1.394780	0.05596	U	0.575550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	8.0157	0.30379	0.5438:0.4562:0.0:0.0	.	.	.	.	X	22	.	ENSP00000360372:Q22X	Q	+	1	0	CYP2C19	96512516	0.078000	0.21339	0.120000	0.21714	0.422000	0.31414	1.922000	0.40045	0.666000	0.31087	0.391000	0.25812	CAG		0.458	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		56	121	0	0	0	0.00361	0	56	121				
HPSE2	60495	broad.mit.edu	37	10	100219443	100219443	+	Missense_Mutation	SNP	G	G	T	rs138866975		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:100219443G>T	ENST00000370552.3	-	12	1726	c.1667C>A	c.(1666-1668)cCa>cAa	p.P556Q	HPSE2_ENST00000404542.1_Missense_Mutation_p.P444Q|HPSE2_ENST00000370549.1_Missense_Mutation_p.P498Q|HPSE2_ENST00000370546.1_3'UTR	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	556					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTTCAATTCTGGGAGGGTCCC	0.537																																							uc001kpn.1		NA																	0				ovary(1)	1						c.(1666-1668)CCA>CAA		heparanase 2							42.0	40.0	40.0					10																	100219443		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100219443G>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1667C>A	10.37:g.100219443G>T	ENSP00000359583:p.Pro556Gln					HPSE2_uc009xwc.1_3'UTR|HPSE2_uc001kpo.1_Missense_Mutation_p.P488Q|HPSE2_uc009xwd.1_Missense_Mutation_p.P434Q	p.P556Q	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	12	1727	-			556					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1667C>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067613	0.93898	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000404542	D;D;D	0.82526	-1.62;-1.62;-1.62	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.93149	0.6548	10	0.87932	D	0	-6.138	19.4309	0.94765	0.0:0.0:1.0:0.0	.	444;498;556	Q8WWQ2-4;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	Q	556;498;444	ENSP00000359583:P556Q;ENSP00000359580:P498Q;ENSP00000384384:P444Q	ENSP00000359580:P498Q	P	-	2	0	HPSE2	100209433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.304000	0.96190	2.592000	0.87571	0.650000	0.86243	CCA		0.537	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		11	19	1	0	3.86212e-05	0.008291	4.2368e-05	11	19				
PNLIPRP3	119548	broad.mit.edu	37	10	118196292	118196292	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:118196292C>A	ENST00000369230.3	+	2	265	c.119C>A	c.(118-120)aCa>aAa	p.T40K		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	40					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACTTTCTCAACAGAGTTGGTA	0.433																																							uc001lcl.3		NA																	0				ovary(1)	1						c.(118-120)ACA>AAA		pancreatic lipase-related protein 3 precursor							165.0	154.0	157.0					10																	118196292		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118196292C>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.119C>A	10.37:g.118196292C>A	ENSP00000358232:p.Thr40Lys						p.T40K	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	2	220	+			40						Missense_Mutation	SNP	ENST00000369230.3	37	c.119C>A	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464884	0.26335	.	.	ENSG00000203837	ENST00000369230	D	0.90563	-2.69	4.56	1.61	0.23674	Lipase, N-terminal (1);	0.490136	0.17029	N	0.189817	T	0.79667	0.4485	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.19666	0.026	T	0.70197	-0.4938	10	0.72032	D	0.01	.	9.3004	0.37842	0.0809:0.2762:0.6429:0.0	.	40	Q17RR3	LIPR3_HUMAN	K	40	ENSP00000358232:T40K	ENSP00000358232:T40K	T	+	2	0	PNLIPRP3	118186282	0.978000	0.34361	0.000000	0.03702	0.004000	0.04260	3.686000	0.54685	0.217000	0.20800	-0.974000	0.02594	ACA		0.433	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		22	67	1	0	1.36565e-18	0.00278	2.23055e-18	22	67				
GRK5	2869	broad.mit.edu	37	10	121196210	121196210	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:121196210C>A	ENST00000392870.2	+	9	1115	c.786C>A	c.(784-786)gtC>gtA	p.V262V	GRK5_ENST00000369108.3_Silent_p.V157V	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGCTTGGTCCTGACCATCA	0.552																																							uc001led.2		NA																	0				lung(2)|stomach(1)	3						c.(784-786)GTC>GTA		G protein-coupled receptor kinase 5							150.0	118.0	129.0					10																	121196210		2203	4300	6503	SO:0001819	synonymous_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121196210C>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.786C>A	10.37:g.121196210C>A						GRK5_uc009xzh.2_Silent_p.V157V|GRK5_uc010qta.1_Silent_p.V157V	p.V262V	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	9	1019	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	262			Protein kinase.		D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	c.786C>A	CCDS7612.1																																																																																				0.552	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		14	39	1	0	3.27435e-08	0.00245	3.97793e-08	14	39				
GLRX3	10539	broad.mit.edu	37	10	131965194	131965194	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:131965194A>G	ENST00000368644.1	+	6	685	c.663A>G	c.(661-663)gcA>gcG	p.A221A	GLRX3_ENST00000331244.5_Silent_p.A221A	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	221	Glutaredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AGCTAGAAGCATCTGAAGAAC	0.289																																							uc001lkm.1		NA																	0					0						c.(661-663)GCA>GCG		glutaredoxin 3							64.0	68.0	66.0					10																	131965194		2203	4297	6500	SO:0001819	synonymous_variant	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131965194A>G	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.663A>G	10.37:g.131965194A>G						GLRX3_uc001lkn.1_Silent_p.A221A|GLRX3_uc001lko.2_RNA	p.A221A	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	6	685	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	221			Glutaredoxin 1.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Silent	SNP	ENST00000368644.1	37	c.663A>G	CCDS7661.1																																																																																				0.289	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		12	27	0	0	0	0.001368	0	12	27				
OR52E2	119678	broad.mit.edu	37	11	5080461	5080461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:5080461G>A	ENST00000321522.2	-	1	396	c.397C>T	c.(397-399)Caa>Taa	p.Q133*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCGCTATATTGGAGTGGATTG	0.433																																							uc010qyw.1		NA																	0				ovary(2)|skin(1)	3						c.(397-399)CAA>TAA		olfactory receptor, family 52, subfamily E,							85.0	78.0	80.0					11																	5080461		2201	4298	6499	SO:0001587	stop_gained	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080461G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.397C>T	11.37:g.5080461G>A	ENSP00000322088:p.Gln133*						p.Q133*	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	397	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	133			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000321522.2	37	c.397C>T	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878473	0.17395	.	.	ENSG00000176787	ENST00000321522	.	.	.	3.77	2.84	0.33178	.	0.460095	0.18039	N	0.153683	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.7152	0.40270	0.0:0.0:0.5034:0.4966	.	.	.	.	X	133	.	ENSP00000322088:Q133X	Q	-	1	0	OR52E2	5037037	0.000000	0.05858	0.010000	0.14722	0.013000	0.08279	0.845000	0.27668	1.180000	0.42898	0.650000	0.86243	CAA		0.433	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		9	35	0	0	0	0.006214	0	9	35				
MICAL2	9645	broad.mit.edu	37	11	12183922	12183922	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:12183922T>C	ENST00000256194.4	+	3	508	c.220T>C	c.(220-222)Tcc>Ccc	p.S74P	MICAL2_ENST00000527546.1_Missense_Mutation_p.S74P|MICAL2_ENST00000342902.5_Missense_Mutation_p.S74P|MICAL2_ENST00000379612.3_Missense_Mutation_p.S74P|MICAL2_ENST00000537344.1_Missense_Mutation_p.S74P	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	74	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TAAGCGTGGTTCCCACAAAGA	0.507																																							uc001mjz.2		NA																	0				upper_aerodigestive_tract(2)	2						c.(220-222)TCC>CCC		microtubule associated monoxygenase, calponin							68.0	64.0	66.0					11																	12183922		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12183922T>C	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.220T>C	11.37:g.12183922T>C	ENSP00000256194:p.Ser74Pro					MICAL2_uc010rch.1_Missense_Mutation_p.S74P|MICAL2_uc001mjy.2_Missense_Mutation_p.S74P|MICAL2_uc001mka.2_Missense_Mutation_p.S74P|MICAL2_uc010rci.1_Missense_Mutation_p.S74P|MICAL2_uc001mkb.2_Missense_Mutation_p.S74P|MICAL2_uc001mkc.2_Missense_Mutation_p.S74P	p.S74P	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	3	508	+			74					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.220T>C	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034423	0.54896	.	.	ENSG00000133816	ENST00000537344;ENST00000532179;ENST00000526065;ENST00000256194;ENST00000532420;ENST00000527546;ENST00000342902;ENST00000524685;ENST00000525119;ENST00000533389;ENST00000379612	T;T;T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.55	3.07	0.35406	.	0.470987	0.21641	N	0.071333	T	0.24275	0.0588	M	0.65975	2.015	0.33101	D	0.539292	P;B;B;B;P;P	0.45827	0.867;0.392;0.216;0.212;0.649;0.506	B;B;B;B;B;B	0.40285	0.325;0.113;0.217;0.113;0.217;0.155	T	0.42224	-0.9464	10	0.62326	D	0.03	.	5.3113	0.15831	0.2496:0.0:0.1382:0.6123	.	74;74;74;74;74;74	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	P	74	ENSP00000441689:S74P;ENSP00000434209:S74P;ENSP00000435270:S74P;ENSP00000256194:S74P;ENSP00000433818:S74P;ENSP00000433965:S74P;ENSP00000344894:S74P;ENSP00000437229:S74P;ENSP00000433509:S74P;ENSP00000433357:S74P;ENSP00000368932:S74P	ENSP00000256194:S74P	S	+	1	0	MICAL2	12140498	0.920000	0.31207	0.989000	0.46669	0.975000	0.68041	1.663000	0.37429	1.092000	0.41356	0.533000	0.62120	TCC		0.507	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		11	28	0	0	0	0.008291	0	11	28				
FAR1	84188	broad.mit.edu	37	11	13722001	13722001	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:13722001C>T	ENST00000354817.3	+	3	471	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	109					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATATTATATTCCACTGTGCAG	0.303																																							uc001mld.2		NA																	0				ovary(1)|skin(1)	2						c.(325-327)TTC>TTT		fatty acyl CoA reductase 1							57.0	63.0	61.0					11																	13722001		2200	4292	6492	SO:0001819	synonymous_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13722001C>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.327C>T	11.37:g.13722001C>T						FAR1_uc009ygp.2_Silent_p.F109F	p.F109F	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			3	482	+			109					D3DQW8|Q5CZA3	Silent	SNP	ENST00000354817.3	37	c.327C>T	CCDS7813.1																																																																																				0.303	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		6	67	0	0	0	0.00308	0	6	67				
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:15260573G>T	ENST00000379554.3	+	11	1533	c.1487G>T	c.(1486-1488)cGt>cTt	p.R496L	INSC_ENST00000379556.3_Missense_Mutation_p.R449L|INSC_ENST00000530161.1_Missense_Mutation_p.R449L|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.R407L|INSC_ENST00000525218.1_Missense_Mutation_p.R407L|INSC_ENST00000528567.1_Missense_Mutation_p.R449L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	496					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607																																							uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1486-1488)CGT>CTT		inscuteable isoform a							51.0	53.0	52.0					11																	15260573		2086	4206	6292	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260573G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1487G>T	11.37:g.15260573G>T	ENSP00000368872:p.Arg496Leu					INSC_uc001mlz.2_Missense_Mutation_p.R449L|INSC_uc001mma.2_Missense_Mutation_p.R449L|INSC_uc010rcs.1_Missense_Mutation_p.R484L|INSC_uc001mmb.2_Missense_Mutation_p.R449L|INSC_uc001mmc.2_Missense_Mutation_p.R407L	p.R496L	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			11	1533	+			496					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1487G>T	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318736	0.95682	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.69654	-0.5087	10	0.72032	D	0.01	-10.436	19.7365	0.96208	0.0:0.0:1.0:0.0	.	484;407;449;496	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	L	496;449;407;449;449;407	ENSP00000368872:R496L;ENSP00000368874:R449L;ENSP00000389161:R407L;ENSP00000435022:R449L;ENSP00000436194:R449L;ENSP00000436113:R407L	ENSP00000368872:R496L	R	+	2	0	INSC	15217149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.672000	0.90937	0.655000	0.94253	CGT		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		7	32	1	0	0.000157383	0.00308	0.000168871	7	32				
MRGPRX2	117194	broad.mit.edu	37	11	19077389	19077389	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:19077389A>T	ENST00000329773.2	-	2	648	c.561T>A	c.(559-561)acT>acA	p.T187T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	187					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCCACGCTGCAGTGATGAAAT	0.527																																					GBM(198;1966 2199 4849 37227 49954)	GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NA																	0				ovary(1)	1						c.(559-561)ACT>ACA		MAS-related GPR, member X2							55.0	53.0	54.0					11																	19077389		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077389A>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.561T>A	11.37:g.19077389A>T							p.T187T	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	649	-			187			Helical; Name=5; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.561T>A	CCDS7847.1																																																																																				0.527	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		25	34	0	0	0	0.00333	0	25	34				
LRRC4C	57689	broad.mit.edu	37	11	40137465	40137465	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:40137465G>T	ENST00000278198.2	-	2	2341	c.378C>A	c.(376-378)ctC>ctA	p.L126L	LRRC4C_ENST00000530763.1_Silent_p.L126L|LRRC4C_ENST00000527150.1_Silent_p.L126L|LRRC4C_ENST00000528697.1_Silent_p.L126L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	126					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCAGAGTGTTGAGGTTCGCCA	0.443																																							uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(376-378)CTC>CTA		netrin-G1 ligand precursor							70.0	71.0	70.0					11																	40137465		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137465G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.378C>A	11.37:g.40137465G>T						LRRC4C_uc001mxc.1_Silent_p.L122L|LRRC4C_uc001mxd.1_Silent_p.L122L|LRRC4C_uc001mxb.1_Silent_p.L122L	p.L126L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2342	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	126			LRR 3.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.378C>A	CCDS31464.1																																																																																				0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		23	33	1	0	7.41877e-09	0.012319	9.20303e-09	23	33				
OR4C6	219432	broad.mit.edu	37	11	55433265	55433265	+	Missense_Mutation	SNP	T	T	C	rs146339011		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:55433265T>C	ENST00000314259.3	+	1	652	c.623T>C	c.(622-624)aTc>aCc	p.I208T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGTGTGGCCATCTTTCTTATC	0.493																																							uc001nht.3		NA																	0		p.I208M(1)		skin(2)	2						c.(622-624)ATC>ACC		olfactory receptor, family 4, subfamily C,							142.0	124.0	130.0					11																	55433265		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433265T>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.623T>C	11.37:g.55433265T>C	ENSP00000324769:p.Ile208Thr					OR4C6_uc010rik.1_Missense_Mutation_p.I208T	p.I208T	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	888	+			208			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.623T>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.742755	0.00087	.	.	ENSG00000181903	ENST00000314259	T	0.36520	1.25	4.07	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.190601	0.25648	N	0.029230	T	0.12732	0.0309	N	0.01257	-0.925	0.09310	N	1	P	0.35050	0.482	P	0.44811	0.461	T	0.42327	-0.9458	10	0.05959	T	0.93	.	3.1288	0.06417	0.0:0.2157:0.2212:0.5631	.	208	Q8NH72	OR4C6_HUMAN	T	208	ENSP00000324769:I208T	ENSP00000324769:I208T	I	+	2	0	OR4C6	55189841	0.000000	0.05858	0.199000	0.23439	0.033000	0.12548	-1.288000	0.02783	1.484000	0.48361	0.444000	0.29173	ATC		0.493	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		44	77	0	0	0	0.011902	0	44	77				
MS4A6A	64231	broad.mit.edu	37	11	59939710	59939710	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:59939710G>T	ENST00000530839.1	-	8	1160	c.668C>A	c.(667-669)cCt>cAt	p.P223H	MS4A6A_ENST00000529054.1_Missense_Mutation_p.P251H|MS4A6A_ENST00000420732.2_3'UTR|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P223H|MS4A6A_ENST00000528851.1_3'UTR|MS4A6A_ENST00000426738.2_3'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	223						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTAACTGTGAGGCAGGAAAAG	0.338																																							uc001nor.2		NA																	0					0						c.(667-669)CCT>CAT		membrane-spanning 4-domains, subfamily A, member							120.0	120.0	120.0					11																	59939710		2201	4290	6491	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59939710G>T	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.668C>A	11.37:g.59939710G>T	ENSP00000436979:p.Pro223His					MS4A6A_uc001noq.2_3'UTR|MS4A6A_uc001nos.3_Missense_Mutation_p.P251H|MS4A6A_uc009ymv.2_Missense_Mutation_p.P223H	p.P223H	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			7	906	-			223			Cytoplasmic (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.668C>A	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310856	0.23821	.	.	ENSG00000110077	ENST00000323961;ENST00000530839;ENST00000529054	T;T;T	0.06528	3.35;3.35;3.29	3.68	3.68	0.42216	.	2.142910	0.05200	U	0.504695	T	0.14787	0.0357	N	0.24115	0.695	0.38288	D	0.942619	D;D	0.89917	1.0;1.0	D;D	0.65987	0.94;0.94	T	0.11717	-1.0576	10	0.87932	D	0	.	11.1825	0.48636	0.0:0.0:1.0:0.0	.	251;223	E9PSA9;Q9H2W1	.;M4A6A_HUMAN	H	223;223;251	ENSP00000315878:P223H;ENSP00000436979:P223H;ENSP00000435844:P251H	ENSP00000315878:P223H	P	-	2	0	MS4A6A	59696286	0.075000	0.21258	0.015000	0.15790	0.055000	0.15305	3.545000	0.53648	2.354000	0.79902	0.591000	0.81541	CCT		0.338	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			54	100	1	0	2.48254e-18	0.00361	4.03242e-18	54	100				
AHNAK	79026	broad.mit.edu	37	11	62285076	62285076	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:62285076C>A	ENST00000378024.4	-	5	17087	c.16813G>T	c.(16813-16815)Gct>Tct	p.A5605S	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5605	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTTGAGAGCAGAGGAGACT	0.542																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(16813-16815)GCT>TCT		AHNAK nucleoprotein isoform 1							125.0	141.0	135.0					11																	62285076		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285076C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16813G>T	11.37:g.62285076C>A	ENSP00000367263:p.Ala5605Ser					AHNAK_uc001ntk.1_Intron	p.A5605S	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	17113	-		Melanoma(852;0.155)	5605			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16813G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	3.738	-0.054134	0.07362	.	.	ENSG00000124942	ENST00000378024	T	0.00745	5.75	4.75	2.76	0.32466	.	0.163610	0.28376	N	0.015574	T	0.01124	0.0037	N	0.22421	0.69	0.09310	N	1	P	0.44044	0.825	P	0.58454	0.839	T	0.43310	-0.9399	10	0.07325	T	0.83	.	6.9373	0.24472	0.3181:0.5997:0.0:0.0823	.	5605	Q09666	AHNK_HUMAN	S	5605	ENSP00000367263:A5605S	ENSP00000367263:A5605S	A	-	1	0	AHNAK	62041652	0.318000	0.24598	0.901000	0.35422	0.980000	0.70556	0.458000	0.21892	0.347000	0.23924	0.637000	0.83480	GCT		0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		37	177	1	0	6.97489e-18	0.004878	1.11447e-17	37	177				
CCDC87	55231	broad.mit.edu	37	11	66360278	66360278	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:66360278C>T	ENST00000333861.3	-	1	276	c.209G>A	c.(208-210)gGg>gAg	p.G70E	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	70					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					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						CGCTGCTATCCCGCTGCCGGC	0.677											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001oiq.3		NA																	0				ovary(1)|skin(1)	2						c.(208-210)GGG>GAG		coiled-coil domain containing 87							27.0	28.0	28.0					11																	66360278		2199	4291	6490	SO:0001583	missense	55231							g.chr11:66360278C>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.209G>A	11.37:g.66360278C>T	ENSP00000328487:p.Gly70Glu		OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1091	CCS_uc001oir.2_5'Flank	p.G70E	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	277	-			70					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.209G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965539	0.18583	.	.	ENSG00000182791	ENST00000333861	T	0.29917	1.55	5.39	3.53	0.40419	.	0.425328	0.19712	N	0.107797	T	0.29749	0.0743	M	0.73962	2.25	0.09310	N	1	P	0.38711	0.643	B	0.33392	0.163	T	0.24621	-1.0155	10	0.54805	T	0.06	-15.7741	7.9841	0.30200	0.0:0.8178:0.0:0.1822	.	70	Q9NVE4	CCD87_HUMAN	E	70	ENSP00000328487:G70E	ENSP00000328487:G70E	G	-	2	0	CCDC87	66116854	0.000000	0.05858	0.185000	0.23176	0.005000	0.04900	0.232000	0.17891	0.840000	0.34995	0.655000	0.94253	GGG		0.677	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		3	53	0	0	0	0.004672	0	3	53				
MRGPRD	116512	broad.mit.edu	37	11	68747617	68747617	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:68747617C>T	ENST00000309106.3	-	1	838	c.839G>A	c.(838-840)gGc>gAc	p.G280D		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	280						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTCCGGCTGCCCACCAGGAA	0.667																																							uc010rqf.1		NA																	0				pancreas(1)	1						c.(838-840)GGC>GAC		MAS-related GPR, member D							29.0	33.0	32.0					11																	68747617		2198	4291	6489	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747617C>T	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.839G>A	11.37:g.68747617C>T	ENSP00000310631:p.Gly280Asp						p.G280D	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	839	-			280			Helical; Name=7; (Potential).		Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.839G>A	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530235	0.45073	.	.	ENSG00000172938	ENST00000309106	T	0.37752	1.18	4.53	4.53	0.55603	.	0.000000	0.45867	U	0.000339	T	0.65657	0.2712	M	0.88640	2.97	0.43657	D	0.996072	D	0.89917	1.0	D	0.97110	1.0	T	0.74140	-0.3761	10	0.87932	D	0	-29.0862	14.7793	0.69754	0.0:1.0:0.0:0.0	.	280	Q8TDS7	MRGRD_HUMAN	D	280	ENSP00000310631:G280D	ENSP00000310631:G280D	G	-	2	0	MRGPRD	68504193	0.972000	0.33761	0.708000	0.30435	0.014000	0.08584	3.582000	0.53921	2.065000	0.61736	0.446000	0.29264	GGC		0.667	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		19	44	0	0	0	0.007413	0	19	44				
INPPL1	3636	broad.mit.edu	37	11	71948755	71948755	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:71948755G>T	ENST00000298229.2	+	26	3671	c.3467G>T	c.(3466-3468)cGg>cTg	p.R1156L	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Missense_Mutation_p.R914L|INPPL1_ENST00000541756.1_Missense_Mutation_p.R914L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1156					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCCCCCCCGGGGACTGCCC	0.697																																							uc001osf.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(3466-3468)CGG>CTG		inositol polyphosphate phosphatase-like 1							10.0	12.0	11.0					11																	71948755		2129	4210	6339	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948755G>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3467G>T	11.37:g.71948755G>T	ENSP00000298229:p.Arg1156Leu					INPPL1_uc001osg.2_Missense_Mutation_p.R914L	p.R1156L	NM_001567	NP_001558	O15357	SHIP2_HUMAN			26	3614	+			1156					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3467G>T	CCDS8213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.148|3.148	-0.174734|-0.174734	0.06421|0.06421	.|.	.|.	ENSG00000165458|ENSG00000165458	ENST00000320683|ENST00000298229;ENST00000541756;ENST00000538751;ENST00000541752	.|D;D;D;T	.|0.96745	.|-3.01;-4.11;-4.11;1.31	4.19|4.19	4.19|4.19	0.49359|0.49359	.|.	.|0.000000	.|0.41001	.|D	.|0.000979	D|D	0.90225|0.90225	0.6944|0.6944	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P	.|0.35242	.|0.492	.|B	.|0.29353	.|0.101	D|D	0.83900|0.83900	0.0289|0.0289	5|10	.|0.35671	.|T	.|0.21	.|.	14.4021|14.4021	0.67053|0.67053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1156	.|O15357	.|SHIP2_HUMAN	W|L	18|1156;914;914;169	.|ENSP00000298229:R1156L;ENSP00000446360:R914L;ENSP00000444619:R914L;ENSP00000441094:R169L	.|ENSP00000298229:R1156L	G|R	+|+	1|2	0|0	INPPL1|INPPL1	71626403|71626403	0.987000|0.987000	0.35691|0.35691	0.259000|0.259000	0.24435|0.24435	0.003000|0.003000	0.03518|0.03518	3.822000|3.822000	0.55708|0.55708	2.326000|2.326000	0.78906|0.78906	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.697	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		10	20	1	0	6.42651e-13	0.010729	9.21656e-13	10	20				
DDIAS	220042	broad.mit.edu	37	11	82645284	82645284	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:82645284T>G	ENST00000533655.1	+	6	3116	c.2904T>G	c.(2902-2904)tgT>tgG	p.C968W	C11orf82_ENST00000430323.2_Missense_Mutation_p.C968W|C11orf82_ENST00000329143.3_Missense_Mutation_p.C667W|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		968					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CTGATTCTTGTTCAGAAGTCA	0.403																																							uc001ozt.2		NA																	0				ovary(2)	2						c.(2902-2904)TGT>TGG		nitric oxide-inducible gene protein							75.0	75.0	75.0					11																	82645284		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82645284T>G																												ENST00000533655.1:c.2904T>G	11.37:g.82645284T>G	ENSP00000435421:p.Cys968Trp					C11orf82_uc010rsr.1_Missense_Mutation_p.C667W|C11orf82_uc010rss.1_Missense_Mutation_p.C667W|C11orf82_uc009yvd.2_Intron	p.C968W	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	3148	+			968					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2904T>G	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525721	0.44969	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.20881	2.32;2.32;2.04	5.1	5.1	0.69264	.	0.260412	0.29396	N	0.012268	T	0.27205	0.0667	L	0.60455	1.87	0.44745	D	0.997742	D	0.58620	0.983	P	0.46975	0.533	T	0.02093	-1.1215	9	.	.	.	-0.005	12.7595	0.57356	0.0:0.0:0.0:1.0	.	968	Q8IXT1	NOXIN_HUMAN	W	968;968;667	ENSP00000414687:C968W;ENSP00000435421:C968W;ENSP00000329930:C667W	.	C	+	3	2	C11orf82	82322932	0.282000	0.24268	0.785000	0.31869	0.382000	0.30200	0.678000	0.25277	2.152000	0.67230	0.533000	0.62120	TGT		0.403	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			25	65	0	0	0	0.003954	0	25	65				
CCDC81	60494	broad.mit.edu	37	11	86130969	86130969	+	Splice_Site	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:86130969G>T	ENST00000445632.2	+	14	1963		c.e14-1		CCDC81_ENST00000278487.3_Splice_Site|CCDC81_ENST00000528728.1_Splice_Site|CCDC81_ENST00000354755.1_Splice_Site	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81											kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TTTCTCTCCAGGCACTTGGCA	0.473																																							uc001pbx.1		NA																	0				skin(1)	1						c.e14-1		coiled-coil domain containing 81 isoform 1							53.0	50.0	51.0					11																	86130969		2202	4299	6501	SO:0001630	splice_region_variant	60494							g.chr11:86130969G>T	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1692-1G>T	11.37:g.86130969G>T						CCDC81_uc001pbw.1_Splice_Site_p.E474_splice|CCDC81_uc010rtq.1_Splice_Site_p.E347_splice|CCDC81_uc001pby.1_Splice_Site_p.E299_splice	p.E564_splice	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN			14	2120	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)						A0AVL7|Q53FW3|Q9H5E5	Splice_Site	SNP	ENST00000445632.2	37	c.1692_splice	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	5.559	0.288042	0.10513	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0146	0.64517	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC81	85808617	0.998000	0.40836	0.121000	0.21740	0.005000	0.04900	4.414000	0.59802	2.685000	0.91497	0.555000	0.69702	.		0.473	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	Intron	10	41	1	0	1.58986e-06	0.008291	1.81875e-06	10	41				
NOX4	50507	broad.mit.edu	37	11	89070683	89070683	+	Splice_Site	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:89070683A>T	ENST00000263317.4	-	16	1685	c.1447T>A	c.(1447-1449)Ttt>Att	p.F483I	NOX4_ENST00000527956.1_Splice_Site_p.F459I|NOX4_ENST00000527626.1_Splice_Site_p.F296I|NOX4_ENST00000424319.1_Splice_Site_p.F459I|NOX4_ENST00000534731.1_Splice_Site_p.F443I|NOX4_ENST00000375979.3_Splice_Site_p.F176I|NOX4_ENST00000413594.2_Splice_Site_p.F504I|NOX4_ENST00000343727.5_Splice_Site_p.F459I|NOX4_ENST00000532825.1_Splice_Site_p.F419I|NOX4_ENST00000535633.1_Splice_Site_p.F459I|NOX4_ENST00000528341.1_Splice_Site_p.F458I|NOX4_ENST00000531342.1_Splice_Site_p.F136I|NOX4_ENST00000542487.1_Splice_Site_p.F459I|NOX4_ENST00000525196.1_Splice_Site_p.F247I			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	483	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TCTTGCCAAAACTGAGAGGAC	0.363																																							uc001pct.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1447-1449)TTT>ATT		NADPH oxidase 4 isoform a							52.0	46.0	48.0					11																	89070683		2200	4288	6488	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89070683A>T	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1447-1T>A	11.37:g.89070683A>T						NOX4_uc009yvr.2_Missense_Mutation_p.F458I|NOX4_uc001pcu.2_Missense_Mutation_p.F409I|NOX4_uc001pcw.2_Missense_Mutation_p.F176I|NOX4_uc001pcx.2_Missense_Mutation_p.F136I|NOX4_uc001pcv.2_Missense_Mutation_p.F443I|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.F296I|NOX4_uc009yvp.2_Missense_Mutation_p.F247I|NOX4_uc010rtv.1_Missense_Mutation_p.F419I|NOX4_uc009yvq.2_Missense_Mutation_p.F459I	p.F483I	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			16	1686	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	483			Cytoplasmic (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1447T>A	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171490	0.38315	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94723	-3.47;-3.47;-3.47;-3.5;-3.5;-3.47;-3.5;-3.47;-3.47;-3.32;-3.47;-3.47;-3.5;-3.47	5.18	0.448	0.16614	Ferric reductase, NAD binding (1);	0.248378	0.41500	D	0.000879	D	0.91348	0.7271	L	0.39898	1.24	0.37551	D	0.918697	B;B;B;D;B;B;B;B	0.59357	0.036;0.036;0.071;0.985;0.03;0.452;0.001;0.002	B;B;B;P;B;B;B;B	0.49887	0.141;0.141;0.048;0.625;0.013;0.108;0.004;0.016	D	0.88369	0.2993	9	.	.	.	-4.1167	8.9798	0.35957	0.5578:0.0:0.4422:0.0	.	419;296;458;247;136;176;443;483	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	I	459;459;459;443;247;483;419;459;459;296;458;504;136;176	ENSP00000412446:F459I;ENSP00000440172:F459I;ENSP00000344747:F459I;ENSP00000436892:F443I;ENSP00000436716:F247I;ENSP00000263317:F483I;ENSP00000434924:F419I;ENSP00000433797:F459I;ENSP00000439373:F459I;ENSP00000436093:F296I;ENSP00000436970:F458I;ENSP00000405705:F504I;ENSP00000435039:F136I;ENSP00000365146:F176I	.	F	-	1	0	NOX4	88710331	1.000000	0.71417	0.999000	0.59377	0.644000	0.38419	3.319000	0.51983	0.316000	0.23135	0.455000	0.32223	TTT		0.363	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Missense_Mutation	11	32	0	0	0	0.00499	0	11	32				
BCL9L	283149	broad.mit.edu	37	11	118773311	118773311	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:118773311C>A	ENST00000334801.3	-	6	2105	c.1141G>T	c.(1141-1143)Ggg>Tgg	p.G381W	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	381	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTGCCTCCCCCAGCAGGGCA	0.692																																							uc001pug.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1141-1143)GGG>TGG		B-cell CLL/lymphoma 9-like							24.0	31.0	29.0					11																	118773311		2197	4295	6492	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773311C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1141G>T	11.37:g.118773311C>A	ENSP00000335320:p.Gly381Trp					BCL9L_uc009zal.2_Missense_Mutation_p.G376W	p.G381W	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2106	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	381			Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1141G>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321700	0.41096	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.68765	-0.35	3.9	2.99	0.34606	.	0.000000	0.42964	D	0.000630	T	0.68238	0.2979	N	0.24115	0.695	0.46874	D	0.999231	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.956	T	0.70029	-0.4984	10	0.66056	D	0.02	-4.3924	11.2168	0.48831	0.0:0.9094:0.0:0.0906	.	376;381	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	W	381;344;381;381	ENSP00000335320:G381W	ENSP00000335320:G381W	G	-	1	0	BCL9L	118278521	0.852000	0.29690	0.949000	0.38748	0.690000	0.40134	1.800000	0.38833	0.864000	0.35578	0.305000	0.20034	GGG		0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		15	40	1	0	6.94344e-10	0.006122	9.15414e-10	15	40				
IGSF9B	22997	broad.mit.edu	37	11	133789936	133789936	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:133789936G>T	ENST00000321016.8	-	18	3914	c.3684C>A	c.(3682-3684)ctC>ctA	p.L1228L	IGSF9B_ENST00000533871.2_Silent_p.L1228L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1228	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCTGCTGCAGGAGGCCCGGGC	0.687																																							uc001qgx.3		NA																	0					0						c.(3682-3684)CTC>CTA		immunoglobulin superfamily, member 9B							19.0	24.0	23.0					11																	133789936		1830	4056	5886	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133789936G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3684C>A	11.37:g.133789936G>T							p.L1228L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3915	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1228			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.3684C>A																																																																																					0.687	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		19	41	1	0	3.01185e-09	0.003954	3.84993e-09	19	41				
ADIPOR2	79602	broad.mit.edu	37	12	1863667	1863667	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:1863667C>G	ENST00000357103.4	+	2	409	c.158C>G	c.(157-159)tCc>tGc	p.S53C		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	53					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTCTATCTTCCCATCATAAA	0.433																																							uc001qjm.2		NA																	0					0						c.(157-159)TCC>TGC		adiponectin receptor 2							81.0	75.0	77.0					12																	1863667		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1863667C>G	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.158C>G	12.37:g.1863667C>G	ENSP00000349616:p.Ser53Cys					ADIPOR2_uc001qjn.2_Missense_Mutation_p.S53C	p.S53C	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		2	355	+	Ovarian(42;0.107)		53			Cytoplasmic (Potential).		Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.158C>G	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223288	0.22457	.	.	ENSG00000006831	ENST00000357103	D	0.96774	-4.12	5.26	5.26	0.73747	.	0.432973	0.25783	N	0.028327	D	0.90515	0.7028	N	0.08118	0	0.35423	D	0.793374	B	0.31859	0.343	B	0.30401	0.115	D	0.92254	0.5811	10	0.54805	T	0.06	-13.0654	14.2301	0.65885	0.0:1.0:0.0:0.0	.	53	Q86V24	ADR2_HUMAN	C	53	ENSP00000349616:S53C	ENSP00000349616:S53C	S	+	2	0	ADIPOR2	1733928	0.822000	0.29219	1.000000	0.80357	0.075000	0.17131	1.260000	0.32968	2.736000	0.93811	0.557000	0.71058	TCC		0.433	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		12	39	0	0	0	0.001368	0	12	39				
LRTM2	654429	broad.mit.edu	37	12	1940197	1940197	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:1940197G>T	ENST00000543818.1	+	4	1006	c.164G>T	c.(163-165)aGt>aTt	p.S55I	CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S55I|LRTM2_ENST00000535041.1_Missense_Mutation_p.S55I|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	55	LRRNT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GTGGACTGCAGTGGCCTTGGC	0.632																																							uc001qjt.2		NA																	0				large_intestine(1)	1						c.(163-165)AGT>ATT		leucine-rich repeats and transmembrane domains 2							77.0	72.0	74.0					12																	1940197		2203	4300	6503	SO:0001583	missense	654429					integral to membrane		g.chr12:1940197G>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.164G>T	12.37:g.1940197G>T	ENSP00000446278:p.Ser55Ile					CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S55I|LRTM2_uc010sdx.1_Missense_Mutation_p.S55I|LRTM2_uc001qjv.2_Intron	p.S55I	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	970	+	Ovarian(42;0.107)		55			LRRNT.|Extracellular (Potential).		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.164G>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866792	0.72065	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000546167;ENST00000543694	D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47	5.04	5.04	0.67666	Leucine-rich repeat-containing N-terminal (2);	0.085766	0.85682	D	0.000000	D	0.98182	0.9399	M	0.72624	2.21	0.58432	D	0.999996	D	0.71674	0.998	D	0.73380	0.98	D	0.99486	1.0949	10	0.87932	D	0	.	18.3994	0.90511	0.0:0.0:1.0:0.0	.	55	Q8N967	LRTM2_HUMAN	I	55	ENSP00000446278:S55I;ENSP00000299194:S55I;ENSP00000444737:S55I;ENSP00000438678:S55I;ENSP00000444104:S55I	ENSP00000299194:S55I	S	+	2	0	LRTM2	1810458	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.483000	0.60264	2.345000	0.79718	0.561000	0.74099	AGT		0.632	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			19	67	1	0	3.62473e-10	0.012319	4.84396e-10	19	67				
CLEC4D	338339	broad.mit.edu	37	12	8673750	8673750	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:8673750T>A	ENST00000299665.2	+	6	724	c.531T>A	c.(529-531)tcT>tcA	p.S177S		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	177	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CCGACAACTCTCAGGGAGAAA	0.343																																							uc001qun.2		NA																	0					0						c.(529-531)TCT>TCA		C-type lectin domain family 4, member D							128.0	123.0	124.0					12																	8673750		2203	4300	6503	SO:0001819	synonymous_variant	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8673750T>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.531T>A	12.37:g.8673750T>A							p.S177S	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			6	724	+	Lung SC(5;0.184)		177			C-type lectin.|Extracellular (Potential).		Q8N5J5	Silent	SNP	ENST00000299665.2	37	c.531T>A	CCDS8593.1																																																																																				0.343	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		14	46	0	0	0	0.003163	0	14	46				
A2ML1	144568	broad.mit.edu	37	12	9001432	9001432	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:9001432C>A	ENST00000299698.7	+	16	2130	c.1950C>A	c.(1948-1950)ccC>ccA	p.P650P	A2ML1_ENST00000539547.1_Silent_p.P159P	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACCCAATGCCCCAAGGGCATT	0.527																																							uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(1948-1950)CCC>CCA		alpha-2-macroglobulin-like 1 precursor							185.0	173.0	177.0					12																	9001432		1968	4153	6121	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9001432C>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1950C>A	12.37:g.9001432C>A						A2ML1_uc001qva.1_Silent_p.P230P|A2ML1_uc010sgm.1_Silent_p.P150P	p.P650P	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			16	2048	+			494						Silent	SNP	ENST00000299698.7	37	c.1950C>A	CCDS8596.2																																																																																				0.527	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		70	147	1	0	4.79706e-38	0.00361	8.65237e-38	70	147				
PRB4	5545	broad.mit.edu	37	12	11461220	11461220	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:11461220C>A	ENST00000535904.1	-	3	730	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	PRB4_ENST00000279575.1_Missense_Mutation_p.G233W|PRB4_ENST00000445719.2_Missense_Mutation_p.G164W			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	0	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGCCTGCCCCCTTGAGGAGGT	0.582										HNSCC(22;0.051)																													uc001qzf.1		NA																	0				ovary(1)	1						c.(697-699)GGG>TGG		proline-rich protein BstNI subfamily 4							95.0	106.0	102.0					12																	11461220		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461220C>A		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.697G>T	12.37:g.11461220C>A	ENSP00000442834:p.Gly233Trp	HNSCC(22;0.051)				PRB4_uc001qzt.2_Missense_Mutation_p.G233W	p.G233W	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	731	-			296					A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.697G>T	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	5.354	0.250622	0.10130	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04970	3.52;3.52;3.52	0.916	-0.164	0.13359	.	.	.	.	.	T	0.09202	0.0227	L	0.52573	1.65	0.09310	N	1	D	0.54047	0.964	P	0.50270	0.636	T	0.22695	-1.0209	9	0.72032	D	0.01	.	3.8515	0.08957	0.4216:0.5784:0.0:0.0	.	233	E9PAL0	.	W	233;233;164	ENSP00000279575:G233W;ENSP00000442834:G233W;ENSP00000412740:G164W	ENSP00000279575:G233W	G	-	1	0	PRB4	11352487	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.356000	0.07661	-0.076000	0.12775	0.400000	0.26472	GGG		0.582	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		60	142	1	0	3.00467e-41	0.00361	5.45292e-41	60	142				
PTPRO	5800	broad.mit.edu	37	12	15637142	15637142	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:15637142G>C	ENST00000281171.4	+	2	640	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	PTPRO_ENST00000543886.1_Missense_Mutation_p.V104L|PTPRO_ENST00000348962.2_Missense_Mutation_p.V104L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	104	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAATGGAAATGTGGTGACCAA	0.398																																							uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(310-312)GTG>CTG		receptor-type protein tyrosine phosphatase O							95.0	94.0	94.0					12																	15637142		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15637142G>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.310G>C	12.37:g.15637142G>C	ENSP00000281171:p.Val104Leu					PTPRO_uc001rcw.1_Missense_Mutation_p.V104L|PTPRO_uc001rcu.1_Missense_Mutation_p.V104L	p.V104L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			2	484	+		Hepatocellular(102;0.244)	104			Fibronectin type-III 1.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.310G>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723213	0.48728	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03717	3.83;3.83	5.48	5.48	0.80851	Fibronectin, type III (1);	0.140255	0.32473	N	0.006049	T	0.02494	0.0076	N	0.14661	0.345	0.80722	D	1	B;B;B	0.17465	0.001;0.001;0.022	B;B;B	0.16289	0.003;0.001;0.015	T	0.53906	-0.8372	10	0.32370	T	0.25	.	7.1512	0.25612	0.2061:0.0:0.7939:0.0	.	104;104;104	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	L	104	ENSP00000281171:V104L;ENSP00000343434:V104L	ENSP00000281171:V104L	V	+	1	0	PTPRO	15528409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.591000	0.46163	2.573000	0.86826	0.655000	0.94253	GTG		0.398	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			13	38	0	0	0	0.00245	0	13	38				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	7	1	0	6.40141e-05	0.010729	6.97043e-05	9	7				
FAIM2	23017	broad.mit.edu	37	12	50290860	50290860	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:50290860C>A	ENST00000320634.3	-	5	482	c.388G>T	c.(388-390)Gtc>Ttc	p.V130F	FAIM2_ENST00000550890.1_Missense_Mutation_p.V84F	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	130					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TAGTCCTTGACAGGGTCACTG	0.532																																							uc001rvj.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(388-390)GTC>TTC		Fas apoptotic inhibitory molecule 2							163.0	148.0	153.0					12																	50290860		2203	4300	6503	SO:0001583	missense	23017				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		g.chr12:50290860C>A	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.388G>T	12.37:g.50290860C>A	ENSP00000321951:p.Val130Phe					FAIM2_uc001rvi.1_Missense_Mutation_p.V84F|FAIM2_uc001rvk.1_RNA	p.V130F	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN			5	533	-			130					A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	c.388G>T	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739737	0.49045	.	.	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669;ENST00000547871	T;T;T;T	0.79247	2.27;2.27;-1.25;2.27	5.87	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.65320	2	0.80722	D	1	D	0.57257	0.979	P	0.61477	0.889	T	0.82764	-0.0296	10	0.41790	T	0.15	-16.5103	11.0344	0.47791	0.0:0.9151:0.0:0.0849	.	130	Q9BWQ8	FAIM2_HUMAN	F	130;84;130;88;84	ENSP00000321951:V130F;ENSP00000450132:V84F;ENSP00000446771:V88F;ENSP00000449360:V84F	ENSP00000321951:V130F	V	-	1	0	FAIM2	48577127	0.995000	0.38212	0.092000	0.20876	0.209000	0.24338	3.441000	0.52893	1.630000	0.50440	0.655000	0.94253	GTC		0.532	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		24	60	1	0	9.57634e-11	0.00333	1.30345e-10	24	60				
SCN8A	6334	broad.mit.edu	37	12	52164461	52164461	+	Silent	SNP	C	C	A	rs113227803		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52164461C>A	ENST00000354534.6	+	19	3817	c.3639C>A	c.(3637-3639)ggC>ggA	p.G1213G	SCN8A_ENST00000545061.1_Silent_p.G1213G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1213					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGAGCAGTGGCGCCCTGGTGA	0.562																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(3637-3639)GGC>GGA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						79.0	82.0	81.0					12																	52164461		2197	4300	6497	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52164461C>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3639C>A	12.37:g.52164461C>A						SCN8A_uc010snl.1_Silent_p.G1078G	p.G1213G	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	19	3817	+			1213			III.|Helical; Name=S1 of repeat III; (Potential).		B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.3639C>A	CCDS44891.1																																																																																				0.562	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		24	26	1	0	2.41591e-17	0.004656	3.83934e-17	24	26				
SCN8A	6334	broad.mit.edu	37	12	52180593	52180593	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52180593C>A	ENST00000354534.6	+	22	4388	c.4210C>A	c.(4210-4212)Ctg>Atg	p.L1404M	SCN8A_ENST00000545061.1_Missense_Mutation_p.L1363M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1404					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGCAGGATACCTGGCCCTTCT	0.398																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(4210-4212)CTG>ATG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						70.0	71.0	71.0					12																	52180593		1886	4104	5990	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52180593C>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4210C>A	12.37:g.52180593C>A	ENSP00000346534:p.Leu1404Met					SCN8A_uc010snl.1_Missense_Mutation_p.L1228M|SCN8A_uc001rza.1_RNA	p.L1404M	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	22	4388	+			1404			III.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4210C>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577446	0.65878	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.97642	-4.47;-4.47;-4.47	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98764	0.9584	M	0.89658	3.05	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99327	1.0908	10	0.87932	D	0	.	19.4335	0.94781	0.0:1.0:0.0:0.0	.	1363;1404	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	M	1404;1363;1363	ENSP00000346534:L1404M;ENSP00000440360:L1363M;ENSP00000347255:L1363M	ENSP00000346534:L1404M	L	+	1	2	SCN8A	50466860	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	4.817000	0.62650	2.906000	0.99361	0.655000	0.94253	CTG		0.398	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		5	21	1	0	0.00116845	0.001168	0.00121817	5	21				
KRT72	140807	broad.mit.edu	37	12	52984735	52984735	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52984735A>C	ENST00000537672.2	-	6	984	c.974T>G	c.(973-975)cTg>cGg	p.L325R	KRT72_ENST00000293745.2_Missense_Mutation_p.L325R|KRT72_ENST00000398066.3_Missense_Mutation_p.L137R|KRT72_ENST00000354310.4_Intron	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	325	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGTGACCTGCAGCTCCTGGAT	0.547																																							uc001sar.2		NA																	0				ovary(5)|pancreas(1)	6						c.(973-975)CTG>CGG		keratin 72 isoform 1							87.0	80.0	82.0					12																	52984735		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52984735A>C	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.974T>G	12.37:g.52984735A>C	ENSP00000441160:p.Leu325Arg					KRT72_uc001saq.2_Missense_Mutation_p.L325R|KRT72_uc010sns.1_Intron|KRT72_uc010snt.1_Missense_Mutation_p.L137R	p.L325R	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	6	1060	-			325			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.974T>G	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984784	0.74474	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	D;D;D	0.83755	-1.76;-1.76;-1.76	5.14	5.14	0.70334	Filament (1);	0.000000	0.38778	N	0.001580	D	0.95290	0.8472	H	0.99415	4.555	0.48830	D	0.999719	D	0.89917	1.0	D	0.97110	1.0	D	0.97479	1.0046	10	0.87932	D	0	.	15.6779	0.77341	1.0:0.0:0.0:0.0	.	325	Q14CN4	K2C72_HUMAN	R	325;325;137	ENSP00000441160:L325R;ENSP00000293745:L325R;ENSP00000446151:L137R	ENSP00000293745:L325R	L	-	2	0	KRT72	51271002	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.551000	0.90678	2.253000	0.74438	0.533000	0.62120	CTG		0.547	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		17	46	0	0	0	0.00499	0	17	46				
HOXC11	3227	broad.mit.edu	37	12	54367460	54367460	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:54367460C>A	ENST00000546378.1	+	1	551	c.435C>A	c.(433-435)agC>agA	p.S145R	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S145R			O43248	HXC11_HUMAN	homeobox C11	145					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						ACAAGAACAGCGTCCTGCCTC	0.667			T	NUP98	AML																																		uc001sem.2		NA		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(433-435)AGC>AGA		homeobox C11							63.0	79.0	74.0					12																	54367460		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367460C>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.435C>A	12.37:g.54367460C>A	ENSP00000446680:p.Ser145Arg						p.S145R	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	551	+			145					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.435C>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133117	0.56828	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.45668	0.89;0.89	4.31	2.48	0.30137	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.129271	0.64402	D	0.000001	T	0.43389	0.1245	L	0.38175	1.15	0.45580	D	0.998526	P	0.46512	0.879	P	0.55345	0.774	T	0.32428	-0.9907	10	0.87932	D	0	.	7.267	0.26235	0.0:0.7168:0.0:0.2832	.	145	O43248	HXC11_HUMAN	R	145	ENSP00000446680:S145R;ENSP00000243082:S145R	ENSP00000243082:S145R	S	+	3	2	HOXC11	52653727	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.311000	0.19380	0.565000	0.29255	0.555000	0.69702	AGC		0.667	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			50	126	1	0	6.14515e-18	0.00361	9.87253e-18	50	126				
PTPRB	5787	broad.mit.edu	37	12	70988333	70988333	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:70988333C>A	ENST00000261266.5	-	4	805	c.776G>T	c.(775-777)gGg>gTg	p.G259V	PTPRB_ENST00000550358.1_Missense_Mutation_p.G477V|PTPRB_ENST00000550857.1_Missense_Mutation_p.G259V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.G259V|PTPRB_ENST00000334414.6_Missense_Mutation_p.G477V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G476V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G259V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	259	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGGGTCAGCCCGTGAAAAGC	0.502																																							uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(775-777)GGG>GTG		protein tyrosine phosphatase, receptor type, B							153.0	151.0	152.0					12																	70988333		2005	4193	6198	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70988333C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.776G>T	12.37:g.70988333C>A	ENSP00000261266:p.Gly259Val					PTPRB_uc010sto.1_Missense_Mutation_p.G259V|PTPRB_uc010stp.1_Missense_Mutation_p.G259V|PTPRB_uc001swc.3_Missense_Mutation_p.G477V|PTPRB_uc001swa.3_Missense_Mutation_p.G477V|PTPRB_uc001swd.3_Missense_Mutation_p.G476V|PTPRB_uc009zrr.1_Missense_Mutation_p.G356V|PTPRB_uc001swe.2_Missense_Mutation_p.G477V	p.G259V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		4	806	-	Renal(347;0.236)		259			Fibronectin type-III 3.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.776G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576821	0.45902	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16;3.16;3.16	5.61	2.79	0.32731	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.356810	0.31210	N	0.008041	T	0.22360	0.0539	M	0.64404	1.975	0.27547	N	0.950628	P;P;P;D;D;P;P;D	0.67145	0.909;0.909;0.639;0.988;0.996;0.909;0.693;0.97	P;P;P;D;D;P;P;D	0.69654	0.887;0.887;0.774;0.965;0.927;0.826;0.675;0.94	T	0.02385	-1.1167	10	0.72032	D	0.01	.	11.1717	0.48575	0.0:0.7981:0.0:0.2019	.	259;259;356;477;476;477;259;477	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	V	477;259;477;477;259;259;259;476;356	ENSP00000334928:G477V;ENSP00000393028:G259V;ENSP00000448058:G477V;ENSP00000438927:G259V;ENSP00000447302:G259V;ENSP00000261266:G259V;ENSP00000448349:G476V;ENSP00000446982:G356V	ENSP00000261266:G259V	G	-	2	0	PTPRB	69274600	0.023000	0.18921	0.046000	0.18839	0.394000	0.30568	1.637000	0.37155	0.316000	0.23135	0.655000	0.94253	GGG		0.502	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			32	59	1	0	1.74807e-11	0.010818	2.40155e-11	32	59				
FGD6	55785	broad.mit.edu	37	12	95603227	95603227	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:95603227C>A	ENST00000343958.4	-	2	2056	c.1833G>T	c.(1831-1833)gtG>gtT	p.V611V	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Silent_p.V611V|FGD6_ENST00000546711.1_Silent_p.V611V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	611					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGCACTTTTCCACATCCATAG	0.418																																							uc001tdp.3		NA																	0				ovary(2)|breast(1)	3						c.(1831-1833)GTG>GTT		FYVE, RhoGEF and PH domain containing 6							118.0	117.0	117.0					12																	95603227		2203	4300	6503	SO:0001819	synonymous_variant	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603227C>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1833G>T	12.37:g.95603227C>A						FGD6_uc009zsx.2_Intron	p.V611V	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	2057	-			611					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	c.1833G>T	CCDS31878.1																																																																																				0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		62	148	1	0	5.98616e-33	0.00361	1.06662e-32	62	148				
SCYL2	55681	broad.mit.edu	37	12	100729587	100729587	+	Splice_Site	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:100729587A>G	ENST00000360820.2	+	16	2366		c.e16-1			NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)						endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTTCTATTTCAGCAAATTGAC	0.328																																							uc001thn.2		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.e16-2		SCY1-like 2 protein							84.0	95.0	91.0					12																	100729587		2200	4299	6499	SO:0001630	splice_region_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100729587A>G	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1930-1A>G	12.37:g.100729587A>G						SCYL2_uc001thm.1_Splice_Site_p.Q644_splice	p.Q644_splice	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			16	1980	+								A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Splice_Site	SNP	ENST00000360820.2	37	c.1930_splice	CCDS9076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.59|14.59	2.580847|2.580847	0.46006|0.46006	.|.	.|.	ENSG00000136021|ENSG00000136021	ENST00000549687;ENST00000360820|ENST00000258506	.|.	.|.	.|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30262	.|0.0759	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.20907	.|-1.0261	.|5	.|0.02654	.|T	.|1	.|.	9.0649|9.0649	0.36458|0.36458	0.9081:0.0:0.0919:0.0|0.9081:0.0:0.0919:0.0	.|.	.|.	.|.	.|.	.|R	-1|332	.|.	.|ENSP00000258506:Q332R	.|Q	+|+	.|2	.|0	SCYL2|SCYL2	99253718|99253718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.764000|0.764000	0.43329|0.43329	3.378000|3.378000	0.52432|0.52432	2.081000|2.081000	0.62600|0.62600	0.533000|0.533000	0.62120|0.62120	.|CAG		0.328	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	Intron	31	65	0	0	0	0.012213	0	31	65				
BTBD11	121551	broad.mit.edu	37	12	108011167	108011167	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:108011167C>G	ENST00000280758.5	+	9	2713	c.2185C>G	c.(2185-2187)Cag>Gag	p.Q729E	BTBD11_ENST00000490090.2_Missense_Mutation_p.Q729E|BTBD11_ENST00000420571.2_Intron|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.Q266E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	729						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TACAACCCCCCAGGGTGATAT	0.522																																							uc001tmk.1		NA																	0				skin(2)|ovary(1)	3						c.(2185-2187)CAG>GAG		BTB (POZ) domain containing 11 isoform a							75.0	79.0	78.0					12																	108011167		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108011167C>G	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2185C>G	12.37:g.108011167C>G	ENSP00000280758:p.Gln729Glu					BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.Q729E|BTBD11_uc001tml.1_Missense_Mutation_p.Q266E	p.Q729E	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			9	2706	+			729					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2185C>G	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121336	0.77436	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.51325	0.71;0.71;0.71	5.63	5.63	0.86233	Ankyrin repeat-containing domain (2);	0.104706	0.64402	D	0.000002	T	0.39937	0.1097	N	0.10837	0.055	0.80722	D	1	P;P;P	0.48089	0.82;0.82;0.905	B;B;P	0.47645	0.383;0.383;0.553	T	0.32025	-0.9922	10	0.36615	T	0.2	.	19.6876	0.95986	0.0:1.0:0.0:0.0	.	266;729;729	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	E	729;729;266	ENSP00000280758:Q729E;ENSP00000447319:Q729E;ENSP00000349690:Q266E	ENSP00000280758:Q729E	Q	+	1	0	BTBD11	106535297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.037000	0.70956	2.659000	0.90383	0.655000	0.94253	CAG		0.522	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		24	70	0	0	0	0.002299	0	24	70				
FAM109A	144717	broad.mit.edu	37	12	111801043	111801043	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:111801043C>A	ENST00000547838.2	-	2	286	c.189G>T	c.(187-189)ctG>ctT	p.L63L	FAM109A_ENST00000361483.3_Silent_p.L76L|FAM109A_ENST00000450786.2_Missense_Mutation_p.W44L|FAM109A_ENST00000548163.1_Silent_p.L63L|FAM109A_ENST00000392658.5_Silent_p.L63L			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	63	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						TGCAGCCCTCCAGGATGATGA	0.692																																							uc001tsd.3		NA																	0					0						c.(187-189)CTG>CTT		hypothetical protein LOC144717							31.0	30.0	30.0					12																	111801043		2201	4297	6498	SO:0001819	synonymous_variant	144717				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr12:111801043C>A	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"""Pleckstrin homology (PH) domain containing"""	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.189G>T	12.37:g.111801043C>A						FAM109A_uc009zvu.2_Missense_Mutation_p.W44L|FAM109A_uc001tsc.2_Silent_p.L86L	p.L63L	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN			3	580	-			63			PH.		J3KP50|Q6PJL9|Q96MH8	Silent	SNP	ENST00000547838.2	37	c.189G>T	CCDS9152.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629257	0.46944	.	.	ENSG00000198324	ENST00000450786	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	T	0.78842	0.4347	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81256	-0.1015	6	.	.	.	.	16.4233	0.83773	0.0:1.0:0.0:0.0	.	44	G3V0F1	.	L	44	.	.	W	-	2	0	FAM109A	110285426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.777000	0.55364	1.863000	0.54032	0.561000	0.74099	TGG		0.692	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2	NM_144671		6	20	1	0	8.12818e-05	0.001984	8.78561e-05	6	20				
DNAH10	196385	broad.mit.edu	37	12	124395175	124395175	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:124395175G>T	ENST00000409039.3	+	58	9761	c.9736G>T	c.(9736-9738)Ggc>Tgc	p.G3246C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3246	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCTGTAATGGGCTACTGTGA	0.473																																							uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(9736-9738)GGC>TGC		dynein, axonemal, heavy chain 10							91.0	94.0	93.0					12																	124395175		1941	4135	6076	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124395175G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9736G>T	12.37:g.124395175G>T	ENSP00000386770:p.Gly3246Cys						p.G3246C	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	58	9761	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3246			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9736G>T	CCDS9255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.709324|3.709324	0.68615|0.68615	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000409039|ENST00000540041	T|.	0.74421|.	-0.84|.	4.96|4.96	4.06|4.06	0.47325|0.47325	Dynein heavy chain, coiled coil stalk (1);|.	0.249761|.	0.40469|.	N|.	0.001085|.	T|T	0.71542|0.71542	0.3352|0.3352	M|M	0.80746|0.80746	2.51|2.51	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.64830|.	0.994|.	P|.	0.58577|.	0.841|.	T|T	0.71417|0.71417	-0.4599|-0.4599	10|5	0.54805|.	T|.	0.06|.	.|.	8.3872|8.3872	0.32508|0.32508	0.2302:0.0:0.7698:0.0|0.2302:0.0:0.7698:0.0	.|.	3246|.	Q8IVF4|.	DYH10_HUMAN|.	C|C	3246|173	ENSP00000386770:G3246C|.	ENSP00000386770:G3246C|.	G|W	+|+	1|3	0|0	DNAH10|DNAH10	122961128|122961128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.723000|0.723000	0.41478|0.41478	6.212000|6.212000	0.72188|0.72188	1.088000|1.088000	0.41272|0.41272	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			20	45	1	0	1.78486e-19	0.007413	2.98153e-19	20	45				
POLE	5426	broad.mit.edu	37	12	133209344	133209344	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:133209344C>A	ENST00000320574.5	-	44	6085	c.6042G>T	c.(6040-6042)ggG>ggT	p.G2014G	POLE_ENST00000535270.1_Silent_p.G1987G|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2014					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGCGCCTCAGCCCGTCCTTCA	0.672								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(6040-6042)GGG>GGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							40.0	40.0	40.0					12																	133209344		2203	4298	6501	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133209344C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6042G>T	12.37:g.133209344C>A						POLE_uc001ukq.1_Silent_p.G224G|POLE_uc001ukr.1_Silent_p.G818G|POLE_uc010tbq.1_RNA	p.G2014G	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	44	6086	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2014					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.6042G>T	CCDS9278.1																																																																																				0.672	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		19	33	1	0	1.33834e-09	0.007413	1.73335e-09	19	33				
POLE	5426	broad.mit.edu	37	12	133256567	133256567	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:133256567C>A	ENST00000320574.5	-	5	439	c.396G>T	c.(394-396)gaG>gaT	p.E132D	POLE_ENST00000535270.1_Missense_Mutation_p.E105D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	132					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGGGACAGTCTCCACTTTTG	0.468								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(394-396)GAG>GAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							74.0	71.0	72.0					12																	133256567		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133256567C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.396G>T	12.37:g.133256567C>A	ENSP00000322570:p.Glu132Asp					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E105D	p.E132D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	5	440	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	132					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.396G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614634	0.46631	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000376577	T;T;T	0.13778	2.56;2.56;2.56	5.6	2.46	0.29980	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.052954	0.85682	D	0.000000	T	0.11879	0.0289	L	0.39245	1.2	0.54753	D	0.999984	B;B	0.22746	0.074;0.02	B;B	0.27887	0.073;0.084	T	0.08659	-1.0711	10	0.45353	T	0.12	.	8.8316	0.35087	0.0:0.6381:0.0:0.3619	.	105;132	F5H1D6;Q07864	.;DPOE1_HUMAN	D	132;143;105;67	ENSP00000322570:E132D;ENSP00000406383:E143D;ENSP00000445753:E105D	ENSP00000322570:E132D	E	-	3	2	POLE	131766640	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	0.545000	0.23268	0.551000	0.29008	0.563000	0.77884	GAG		0.468	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		21	50	1	0	5.35356e-11	0.00278	7.32068e-11	21	50				
RXFP2	122042	broad.mit.edu	37	13	32352717	32352717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:32352717G>A	ENST00000298386.2	+	9	853	c.782G>A	c.(781-783)tGg>tAg	p.W261*	RXFP2_ENST00000380314.1_Nonsense_Mutation_p.W261*	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	261					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CAACTCAACTGGGTGTGAGTA	0.328																																							uc001utt.2		NA																	0					0						c.(781-783)TGG>TAG		relaxin/insulin-like family peptide receptor 2							119.0	127.0	124.0					13																	32352717		2203	4298	6501	SO:0001587	stop_gained	122042					integral to membrane|plasma membrane		g.chr13:32352717G>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.782G>A	13.37:g.32352717G>A	ENSP00000298386:p.Trp261*					RXFP2_uc010aba.2_Nonsense_Mutation_p.W244*	p.W261*	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	9	853	+		Lung SC(185;0.0262)	261			Extracellular (Potential).|LRR 6.		B1ALE9|Q3KU23	Nonsense_Mutation	SNP	ENST00000298386.2	37	c.782G>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	37	6.280449	0.97440	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	.	.	.	5.68	5.68	0.88126	.	0.248859	0.46442	D	0.000291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.2827	0.73801	0.0:0.0:1.0:0.0	.	.	.	.	X	261	.	ENSP00000298386:W261X	W	+	2	0	RXFP2	31250717	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.963000	0.63694	2.680000	0.91292	0.655000	0.94253	TGG		0.328	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		29	100	0	0	0	0.010818	0	29	100				
LHFP	10186	broad.mit.edu	37	13	39952639	39952639	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:39952639G>A	ENST00000379589.3	-	3	872	c.410C>T	c.(409-411)gCc>gTc	p.A137V		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	137						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GGGGTAGAGGGCACAGCCAGC	0.507			T	HMGA2	lipoma																																		uc001uxf.2		NA		Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				soft_tissue(2)|lung(1)|breast(1)	4						c.(409-411)GCC>GTC		lipoma HMGIC fusion partner precursor							71.0	65.0	67.0					13																	39952639		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:39952639G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.410C>T	13.37:g.39952639G>A	ENSP00000368908:p.Ala137Val						p.A137V	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	3	921	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	137			Helical; (Potential).		B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.410C>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067287	0.36470	.	.	ENSG00000183722	ENST00000379589	T	0.70986	-0.53	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000002	T	0.70150	0.3191	L	0.39692	1.235	0.58432	D	0.99999	B	0.32893	0.389	B	0.42916	0.402	T	0.64935	-0.6290	9	.	.	.	.	17.4726	0.87650	0.0:0.0:1.0:0.0	.	137	Q9Y693	LHFP_HUMAN	V	137	ENSP00000368908:A137V	.	A	-	2	0	LHFP	38850639	1.000000	0.71417	0.997000	0.53966	0.386000	0.30323	8.722000	0.91452	2.719000	0.93026	0.555000	0.69702	GCC		0.507	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		16	38	0	0	0	0.004007	0	16	38				
RCBTB2	1102	broad.mit.edu	37	13	49076859	49076859	+	Splice_Site	SNP	C	C	A	rs372907752	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:49076859C>A	ENST00000344532.3	-	11	1541		c.e11+1		RCBTB2_ENST00000430805.2_Splice_Site|RCBTB2_ENST00000544492.1_Splice_Site	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2						positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GACCAGCTTACCCACGGAGAG	0.547																																							uc001vch.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.e11+1		regulator of chromosome condensation and BTB							59.0	57.0	57.0					13																	49076859		2203	4300	6503	SO:0001630	splice_region_variant	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49076859C>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1117+1G>T	13.37:g.49076859C>A						RCBTB2_uc010tgg.1_Splice_Site_p.E378_splice|RCBTB2_uc001vci.2_Splice_Site_p.E349_splice|RCBTB2_uc010tgh.1_Splice_Site_p.E99_splice|RCBTB2_uc001vcj.2_Splice_Site_p.E325_splice|RCBTB2_uc010acv.1_Splice_Site	p.E373_splice	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	11	1488	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						B2RDW8	Splice_Site	SNP	ENST00000344532.3	37	c.1117_splice	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780386	0.70222	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.956	0.97218	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RCBTB2	47974860	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.445000	0.80570	2.788000	0.95919	0.557000	0.71058	.		0.547	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268	Intron	16	63	1	0	1.55795e-14	0.012319	2.33692e-14	16	63				
IPO5	3843	broad.mit.edu	37	13	98641395	98641395	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:98641395G>A	ENST00000490680.1	+	4	509	c.444G>A	c.(442-444)cgG>cgA	p.R148R	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000261574.5_Silent_p.R166R			O00410	IPO5_HUMAN	importin 5	148					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGGACTGCGGGAAGCTGCCC	0.378																																							uc001vnf.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(442-444)CGG>CGA		importin 5							75.0	76.0	75.0					13																	98641395		2203	4300	6503	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98641395G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.444G>A	13.37:g.98641395G>A						IPO5_uc001vne.2_Silent_p.R166R|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Silent_p.R88R	p.R148R	NM_002271	NP_002262	O00410	IPO5_HUMAN			4	509	+			148					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.444G>A		.	.	.	.	.	.	.	.	.	.	G	10.22	1.288931	0.23478	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.72	-0.0865	0.13681	.	.	.	.	.	T	0.49729	0.1574	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34030	-0.9845	4	.	.	.	-5.7009	4.4233	0.11492	0.3592:0.0:0.2839:0.357	.	.	.	.	E	150	.	.	G	+	2	0	IPO5	97439396	0.994000	0.37717	0.995000	0.50966	0.961000	0.63080	0.276000	0.18716	-0.124000	0.11724	-0.122000	0.15005	GGG		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		17	27	0	0	0	0.004007	0	17	27				
PRMT5	10419	broad.mit.edu	37	14	23393546	23393546	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:23393546C>G	ENST00000324366.8	-	11	1355	c.1132G>C	c.(1132-1134)Gca>Cca	p.A378P	PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.A317P|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.A361P|PRMT5_ENST00000397440.4_Missense_Mutation_p.A207P|PRMT5_ENST00000553897.1_Missense_Mutation_p.A334P|PRMT5_ENST00000538452.1_Missense_Mutation_p.A272P|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	378	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCTTGGCTGCCCGCAGGGAA	0.552																																							uc001whm.1		NA																	0				ovary(1)	1						c.(1132-1134)GCA>CCA		protein arginine methyltransferase 5 isoform a							77.0	78.0	77.0					14																	23393546		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23393546C>G	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1132G>C	14.37:g.23393546C>G	ENSP00000319169:p.Ala378Pro					PRMT5_uc001whl.1_Missense_Mutation_p.A361P|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.A272P|PRMT5_uc010tng.1_Missense_Mutation_p.A317P|PRMT5_uc010tnh.1_Missense_Mutation_p.A334P|PRMT5_uc001whn.1_Missense_Mutation_p.A207P	p.A378P	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	11	1223	-	all_cancers(95;2.76e-05)		378					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.1132G>C	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944718	0.92593	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	H	0.96430	3.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.79759	-0.1668	10	0.87932	D	0	-12.7457	18.0122	0.89227	0.0:1.0:0.0:0.0	.	334;317;207;378;361	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	P	378;361;207;317;272;334;121;273	ENSP00000319169:A378P;ENSP00000380583:A361P;ENSP00000380582:A207P;ENSP00000216350:A317P;ENSP00000444915:A272P;ENSP00000452555:A334P	ENSP00000216350:A317P	A	-	1	0	PRMT5	22463386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.563000	0.73964	2.788000	0.95919	0.555000	0.69702	GCA		0.552	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			30	63	0	0	0	0.009535	0	30	63				
FOXG1	2290	broad.mit.edu	37	14	29237287	29237287	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:29237287G>C	ENST00000313071.4	+	1	1001	c.802G>C	c.(802-804)Ggc>Cgc	p.G268R	RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.G268R|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	268					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTCATCGGCGGCACCACGGG	0.677																																							uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(802-804)GGC>CGC		forkhead box G1							29.0	33.0	32.0					14																	29237287		2203	4299	6502	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237287G>C		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.802G>C	14.37:g.29237287G>C	ENSP00000339004:p.Gly268Arg						p.G268R	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1001	+			268			Fork-head.		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.802G>C	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361291	0.82353	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95918	-3.85;-3.85	4.05	4.05	0.47172	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.97726	0.9254	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98821	1.0747	10	0.87932	D	0	.	15.7834	0.78281	0.0:0.0:1.0:0.0	.	268	P55316	FOXG1_HUMAN	R	268	ENSP00000371975:G268R;ENSP00000339004:G268R	ENSP00000339004:G268R	G	+	1	0	FOXG1	28307038	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	7.905000	0.87416	1.777000	0.52277	0.313000	0.20887	GGC		0.677	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			15	33	0	0	0	0.004007	0	15	33				
COCH	1690	broad.mit.edu	37	14	31346907	31346907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:31346907C>A	ENST00000396618.3	+	4	268	c.212C>A	c.(211-213)tCg>tAg	p.S71*	COCH_ENST00000216361.4_Nonsense_Mutation_p.S71*|COCH_ENST00000382493.4_5'Flank|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Nonsense_Mutation_p.S71*|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	71	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GCTTCTGTATCGAGCATATGT	0.502																																							uc001wqr.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(211-213)TCG>TAG		cochlin precursor							100.0	96.0	97.0					14																	31346907		2203	4300	6503	SO:0001587	stop_gained	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31346907C>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.212C>A	14.37:g.31346907C>A	ENSP00000379862:p.Ser71*					COCH_uc001wqp.2_Nonsense_Mutation_p.S71*|COCH_uc001wqq.3_Nonsense_Mutation_p.S71*|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	p.S71*	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	4	292	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		71			LCCL.		A8K9K9|D3DS84|Q96IU6	Nonsense_Mutation	SNP	ENST00000396618.3	37	c.212C>A	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	C	36	5.744120	0.96882	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908	.	.	.	5.74	5.74	0.90152	.	0.108824	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6632	19.513	0.95151	0.0:1.0:0.0:0.0	.	.	.	.	X	71;71;71;55	.	ENSP00000216361:S71X	S	+	2	0	COCH	30416658	1.000000	0.71417	0.702000	0.30337	0.908000	0.53690	6.990000	0.76225	2.716000	0.92895	0.561000	0.74099	TCG		0.502	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		12	34	1	0	1.49906e-05	0.00245	1.66941e-05	12	34				
RTN1	6252	broad.mit.edu	37	14	60194214	60194214	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:60194214G>A	ENST00000267484.5	-	3	1523	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	396					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCAGGGGGCTGGGGATGGTTG	0.692																																							uc001xen.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1186-1188)CCC>CCT		reticulon 1 isoform A							14.0	14.0	14.0					14																	60194214		2198	4290	6488	SO:0001819	synonymous_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60194214G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1188C>T	14.37:g.60194214G>A						RTN1_uc001xem.1_5'UTR	p.P396P	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1397	-			396					Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	c.1188C>T	CCDS9740.1																																																																																				0.692	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			8	10	0	0	0	0.00308	0	8	10				
SYNE2	23224	broad.mit.edu	37	14	64678779	64678779	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:64678779C>T	ENST00000344113.4	+	104	19036	c.18824C>T	c.(18823-18825)tCa>tTa	p.S6275L	SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000555002.1_Missense_Mutation_p.S2909L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6275L|SYNE2_ENST00000554805.1_Missense_Mutation_p.S58L|SYNE2_ENST00000555022.1_Missense_Mutation_p.S153L|SYNE2_ENST00000357395.3_Missense_Mutation_p.S2660L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2660L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6234L|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6275					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGCACTTCTCAGAGAGTGAC	0.547																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(18823-18825)TCA>TTA		spectrin repeat containing, nuclear envelope 2							141.0	131.0	134.0					14																	64678779		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64678779C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18824C>T	14.37:g.64678779C>T	ENSP00000341781:p.Ser6275Leu					SYNE2_uc001xgl.2_Missense_Mutation_p.S6275L|SYNE2_uc010apy.2_Missense_Mutation_p.S2660L|SYNE2_uc001xgn.2_Missense_Mutation_p.S1237L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S245L|SYNE2_uc001xgq.2_Missense_Mutation_p.S640L|SYNE2_uc001xgr.2_Missense_Mutation_p.S58L|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank	p.S6275L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	104	19054	+			6275			Spectrin 8.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.18824C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521494	0.64747	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.33	5.33	0.75918	.	0.000000	0.44483	D	0.000449	T	0.60287	0.2257	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.988;0.998;0.998;0.996	T	0.61797	-0.6989	10	0.72032	D	0.01	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	2660;663;6234;6275;6275	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	L	6275;2660;6275;6234;6240;2909;2660;153;58	ENSP00000350719:S6275L;ENSP00000349969:S2660L;ENSP00000341781:S6275L;ENSP00000452570:S6234L;ENSP00000450831:S2909L;ENSP00000378249:S2660L;ENSP00000451009:S153L;ENSP00000450605:S58L	ENSP00000261678:S6240L	S	+	2	0	SYNE2	63748532	1.000000	0.71417	0.965000	0.40720	0.867000	0.49689	5.870000	0.69620	2.654000	0.90174	0.561000	0.74099	TCA		0.547	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		18	106	0	0	0	0.006122	0	18	106				
RPS6KL1	83694	broad.mit.edu	37	14	75388072	75388072	+	Missense_Mutation	SNP	C	C	A	rs146920707	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:75388072C>A	ENST00000555647.1	-	3	460	c.173G>T	c.(172-174)cGg>cTg	p.R58L	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R58L|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R58L|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R58L|RPS6KL1_ENST00000554900.1_5'UTR			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	58						ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CAGGGCCAGCCGGATCTGCGT	0.587																																							uc010tux.1		NA																	0				ovary(1)|stomach(1)|central_nervous_system(1)	3						c.(172-174)CGG>CTG		ribosomal protein S6 kinase-like 1							124.0	105.0	111.0					14																	75388072		2203	4300	6503	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75388072C>A	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.173G>T	14.37:g.75388072C>A	ENSP00000452027:p.Arg58Leu					RPS6KL1_uc001xqw.2_Missense_Mutation_p.R58L|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R58L	p.R58L	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	2	701	-			58					A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.173G>T	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752348	0.89753	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.55	3.64	0.41730	MIT (2);	0.148380	0.46442	D	0.000282	T	0.74650	0.3744	L	0.55481	1.735	0.44798	D	0.997808	P;P;D	0.54964	0.942;0.845;0.969	P;B;P	0.58620	0.842;0.419;0.806	T	0.74682	-0.3583	10	0.62326	D	0.03	-19.7258	8.3267	0.32162	0.0:0.8135:0.0:0.1865	.	58;58;58	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	L	58	ENSP00000452027:R58L;ENSP00000346644:R58L;ENSP00000450567:R58L;ENSP00000351086:R58L	ENSP00000346644:R58L	R	-	2	0	RPS6KL1	74457825	0.987000	0.35691	1.000000	0.80357	0.984000	0.73092	1.520000	0.35899	1.011000	0.39340	0.561000	0.74099	CGG		0.587	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			20	79	1	0	1.01871e-10	0.008871	1.38019e-10	20	79				
FLRT2	23768	broad.mit.edu	37	14	86089443	86089443	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:86089443C>A	ENST00000330753.4	+	2	2352	c.1585C>A	c.(1585-1587)Cat>Aat	p.H529N	FLRT2_ENST00000554746.1_Missense_Mutation_p.H529N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	529					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCGTCCAGCCATGAGCAGAC	0.577																																							uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1585-1587)CAT>AAT		fibronectin leucine rich transmembrane protein 2							99.0	98.0	99.0					14																	86089443		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089443C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1585C>A	14.37:g.86089443C>A	ENSP00000332879:p.His529Asn					FLRT2_uc010atd.2_Missense_Mutation_p.H529N	p.H529N	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2352	+			529			Extracellular (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1585C>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	6.247	0.413685	0.11812	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.54279	0.58;0.58	5.91	5.91	0.95273	.	0.106929	0.64402	D	0.000005	T	0.41396	0.1157	N	0.22421	0.69	0.35398	D	0.79133	B	0.30326	0.276	B	0.22880	0.042	T	0.43782	-0.9370	10	0.31617	T	0.26	-22.4317	20.2985	0.98592	0.0:1.0:0.0:0.0	.	529	O43155	FLRT2_HUMAN	N	529;529;182	ENSP00000332879:H529N;ENSP00000451050:H529N	ENSP00000332879:H529N	H	+	1	0	FLRT2	85159196	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	3.208000	0.51114	2.793000	0.96121	0.655000	0.94253	CAT		0.577	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			37	107	1	0	3.33393e-15	0.004878	5.05246e-15	37	107				
MKRN3	7681	broad.mit.edu	37	15	23811970	23811970	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:23811970G>T	ENST00000314520.3	+	1	1517	c.1041G>T	c.(1039-1041)tgG>tgT	p.W347C	MKRN3_ENST00000564592.1_Missense_Mutation_p.W107C|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	347					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.W347C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCGCAGGTGGAGAAGTGCCA	0.517																																							uc001ywh.3		NA																	1	Substitution - Missense(1)	p.W347C(1)	lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(1039-1041)TGG>TGT		makorin ring finger protein 3							110.0	101.0	104.0					15																	23811970		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811970G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1041G>T	15.37:g.23811970G>T	ENSP00000313881:p.Trp347Cys					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.W347C	p.W347C	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1517	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	347			RING-type.			Missense_Mutation	SNP	ENST00000314520.3	37	c.1041G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706890	0.89018	.	.	ENSG00000179455	ENST00000314520	D	0.86366	-2.11	4.07	4.07	0.47477	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94997	0.8139	10	0.87932	D	0	.	14.5895	0.68354	0.0:0.0:1.0:0.0	.	347	Q13064	MKRN3_HUMAN	C	347	ENSP00000313881:W347C	ENSP00000313881:W347C	W	+	3	0	MKRN3	21363063	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	8.986000	0.93492	2.567000	0.86603	0.655000	0.94253	TGG		0.517	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		31	77	1	0	4.02929e-09	0.010818	5.12818e-09	31	77				
RYR3	6263	broad.mit.edu	37	15	33925217	33925217	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:33925217C>A	ENST00000389232.4	+	24	3005	c.2935C>A	c.(2935-2937)Caa>Aaa	p.Q979K	RYR3_ENST00000415757.3_Missense_Mutation_p.Q979K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	979	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTACCTCCTCAAGAAATTTT	0.378																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(2935-2937)CAA>AAA		ryanodine receptor 3							112.0	106.0	108.0					15																	33925217		1834	4103	5937	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33925217C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2935C>A	15.37:g.33925217C>A	ENSP00000373884:p.Gln979Lys					RYR3_uc010bar.2_Missense_Mutation_p.Q979K	p.Q979K	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	24	3005	+		all_lung(180;7.18e-09)	979			2.|4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2935C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107654	0.94292	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91237	-2.81;-2.81	5.41	5.41	0.78517	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	M	0.80982	2.52	0.80722	D	1	P;D	0.53619	0.917;0.961	D;P	0.63488	0.915;0.743	D	0.95298	0.8401	10	0.72032	D	0.01	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	979;979	Q15413-2;Q15413	.;RYR3_HUMAN	K	979	ENSP00000373884:Q979K;ENSP00000399610:Q979K	ENSP00000354735:Q979K	Q	+	1	0	RYR3	31712509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.814000	0.96858	0.591000	0.81541	CAA		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			23	70	1	0	3.83957e-06	0.00278	4.34167e-06	23	70				
PLA2G4F	255189	broad.mit.edu	37	15	42438093	42438093	+	Missense_Mutation	SNP	C	C	T	rs200522198	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:42438093C>T	ENST00000382396.4	-	15	1629	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.E517K			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	515	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCGTGAACTCGCACCACTCT	0.572													C|||	7	0.00139776	0.0	0.0	5008	,	,		18731	0.0069		0.0	False		,,,				2504	0.0						uc001zoz.2		NA																	0				ovary(4)	4						c.(1543-1545)GAG>AAG		phospholipase A2, group IVF							70.0	69.0	69.0					15																	42438093		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42438093C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1543G>A	15.37:g.42438093C>T	ENSP00000371833:p.Glu515Lys					PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.E147K|PLA2G4F_uc010bcr.2_Missense_Mutation_p.E266K|PLA2G4F_uc001zpa.2_Missense_Mutation_p.E266K|PLA2G4F_uc010bcs.2_Missense_Mutation_p.E302K	p.E515K	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	15	1606	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	515			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1543G>A	CCDS32204.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.4	4.137681	0.77775	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.31247	1.5;1.5	5.22	5.22	0.72569	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.095014	0.44688	D	0.000439	T	0.58264	0.2110	M	0.90425	3.115	0.52501	D	0.999952	D;D	0.53885	0.963;0.963	P;P	0.53861	0.736;0.736	T	0.68926	-0.5280	10	0.87932	D	0	-24.2681	19.1566	0.93514	0.0:1.0:0.0:0.0	.	302;515	A2RRC4;Q68DD2	.;PA24F_HUMAN	K	511;517;515;515	ENSP00000380442:E517K;ENSP00000371833:E515K	ENSP00000290497:E511K	E	-	1	0	PLA2G4F	40225385	1.000000	0.71417	0.992000	0.48379	0.024000	0.10985	6.053000	0.71089	2.604000	0.88044	0.555000	0.69702	GAG		0.572	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		26	72	0	0	0	0.005443	0	26	72				
SEMA6D	80031	broad.mit.edu	37	15	48058158	48058158	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:48058158T>A	ENST00000316364.5	+	14	1959	c.1520T>A	c.(1519-1521)aTt>aAt	p.I507N	SEMA6D_ENST00000354744.4_Missense_Mutation_p.I507N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.I507N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.I507N|SEMA6D_ENST00000389428.3_Missense_Mutation_p.I507N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.I507N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.I507N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.I507N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	507	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTAGCTGCATTATCCGCATC	0.438																																							uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(1519-1521)ATT>AAT		semaphorin 6D isoform 4 precursor							238.0	212.0	221.0					15																	48058158		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058158T>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1520T>A	15.37:g.48058158T>A	ENSP00000324857:p.Ile507Asn					SEMA6D_uc001zvw.2_Missense_Mutation_p.I507N|SEMA6D_uc001zvy.2_Missense_Mutation_p.I507N|SEMA6D_uc001zvz.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwa.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwb.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwc.2_Missense_Mutation_p.I507N	p.I507N	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1880	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	507			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1520T>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211367	0.58343	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.168196	0.52532	D	0.000071	T	0.42607	0.1210	M	0.74467	2.265	0.35994	D	0.836924	P;P;P;P;P	0.46859	0.785;0.885;0.785;0.503;0.785	B;P;B;B;P	0.49477	0.412;0.571;0.412;0.311;0.612	T	0.57590	-0.7785	10	0.87932	D	0	.	16.2874	0.82727	0.0:0.0:0.0:1.0	.	507;507;507;507;507	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	N	507	ENSP00000442040:I507N;ENSP00000446152:I507N;ENSP00000324857:I507N;ENSP00000374084:I507N;ENSP00000374083:I507N;ENSP00000346786:I507N;ENSP00000350770:I507N;ENSP00000374079:I507N;ENSP00000348276:I507N	ENSP00000324857:I507N	I	+	2	0	SEMA6D	45845450	1.000000	0.71417	0.116000	0.21606	0.476000	0.33039	8.040000	0.89188	2.248000	0.74166	0.528000	0.53228	ATT		0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		36	102	0	0	0	0.004289	0	36	102				
UNC13C	440279	broad.mit.edu	37	15	54527297	54527297	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:54527297C>T	ENST00000260323.11	+	4	3141	c.3141C>T	c.(3139-3141)gtC>gtT	p.V1047V	UNC13C_ENST00000545554.1_Silent_p.V1047V|UNC13C_ENST00000537900.1_Silent_p.V1047V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1047					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCCTATTGTCCGAGATGTGG	0.383																																							uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3139-3141)GTC>GTT		unc-13 homolog C							136.0	127.0	130.0					15																	54527297		1852	4092	5944	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54527297C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3141C>T	15.37:g.54527297C>T							p.V1047V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	4	3141	+			1047					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3141C>T	CCDS45264.1																																																																																				0.383	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	32	0	0	0	0.00308	0	6	32				
UNC13C	440279	broad.mit.edu	37	15	54919169	54919169	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:54919169G>T	ENST00000260323.11	+	32	6503	c.6503G>T	c.(6502-6504)tGg>tTg	p.W2168L	UNC13C_ENST00000545554.1_Missense_Mutation_p.W2168L|UNC13C_ENST00000539562.2_Missense_Mutation_p.W89L|UNC13C_ENST00000537900.1_Missense_Mutation_p.W2166L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2168					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATGGGGCATGGTATCCTCTT	0.403																																							uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(6502-6504)TGG>TTG		unc-13 homolog C							136.0	128.0	131.0					15																	54919169		1868	4106	5974	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54919169G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6503G>T	15.37:g.54919169G>T	ENSP00000260323:p.Trp2168Leu					UNC13C_uc002acm.2_Missense_Mutation_p.W89L	p.W2168L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	31	6503	+			2168					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6503G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714373	0.68730	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900;ENST00000539562	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-0.89	5.85	5.85	0.93711	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.370372	0.32175	N	0.006478	T	0.79476	0.4452	M	0.79011	2.435	0.48452	D	0.999656	P	0.38922	0.651	B	0.24974	0.057	T	0.81714	-0.0807	10	0.52906	T	0.07	.	19.1612	0.93533	0.0:0.0:1.0:0.0	.	2168	Q8NB66	UN13C_HUMAN	L	2168;2168;2166;89	ENSP00000260323:W2168L;ENSP00000438156:W2168L;ENSP00000442569:W2166L;ENSP00000443886:W89L	ENSP00000260323:W2168L	W	+	2	0	UNC13C	52706461	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.897000	0.87356	2.768000	0.95171	0.655000	0.94253	TGG		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		18	51	1	0	3.99206e-14	0.007413	5.9276e-14	18	51				
PDCD7	10081	broad.mit.edu	37	15	65411761	65411761	+	Missense_Mutation	SNP	C	C	A	rs145137866	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:65411761C>A	ENST00000204549.4	-	4	1341	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	429					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GGAGATAATACTGTCGGAAAG	0.488																																							uc002aol.2		NA																	0					0						c.(1285-1287)CAG>CAT		programmed cell death 7							58.0	58.0	58.0					15																	65411761		2202	4299	6501	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65411761C>A	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1287G>T	15.37:g.65411761C>A	ENSP00000204549:p.Gln429His						p.Q429H	NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN			4	1342	-			429					Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.1287G>T	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462837	0.63513	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	5.81	4.89	0.63831	.	0.249150	0.32028	N	0.006682	T	0.55513	0.1925	L	0.40543	1.245	0.31555	N	0.658234	D	0.71674	0.998	D	0.65443	0.935	T	0.62487	-0.6844	9	0.62326	D	0.03	-16.3416	9.649	0.39886	0.0:0.7145:0.1151:0.1704	.	429	Q8N8D1	PDCD7_HUMAN	H	429;214;223	.	ENSP00000204549:Q429H	Q	-	3	2	PDCD7	63198814	0.985000	0.35326	1.000000	0.80357	0.949000	0.60115	0.155000	0.16362	0.808000	0.34231	-0.797000	0.03246	CAG		0.488	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		9	25	1	0	3.09899e-07	0.004482	3.64441e-07	9	25				
NOD2	64127	broad.mit.edu	37	16	50744743	50744743	+	Silent	SNP	G	G	T	rs376601025		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:50744743G>T	ENST00000300589.2	+	4	1026	c.921G>T	c.(919-921)acG>acT	p.T307T	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	307	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAAGAGCACGCTCCTGCAGC	0.627																																							uc002egm.1		NA																	0				ovary(3)|skin(1)	4						c.(919-921)ACG>ACT		nucleotide-binding oligomerization domain							35.0	34.0	35.0					16																	50744743		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50744743G>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.921G>T	16.37:g.50744743G>T						NOD2_uc010cbk.1_Silent_p.T280T|NOD2_uc002egl.1_Silent_p.T85T|NOD2_uc010cbl.1_Silent_p.T85T|NOD2_uc010cbm.1_Silent_p.T85T|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.T307T	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1026	+		all_cancers(37;0.0156)	307			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.921G>T	CCDS10746.1																																																																																				0.627	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		15	29	1	0	3.27435e-08	0.00245	3.97793e-08	15	29				
ESRP2	80004	broad.mit.edu	37	16	68264348	68264348	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:68264348C>G	ENST00000565858.1	-	14	2124	c.2038G>C	c.(2038-2040)Ggt>Cgt	p.G680R	ESRP2_ENST00000473183.2_Missense_Mutation_p.G670R|RP11-96D1.11_ENST00000571197.1_RNA|RP11-96D1.10_ENST00000571975.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	680					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TATGGGACACCCTGCATGCGG	0.632																																							uc010cfa.1		NA																	0				ovary(1)	1						c.(2038-2040)GGT>CGT		RNA binding motif protein 35B							97.0	100.0	99.0					16																	68264348		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68264348C>G	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2038G>C	16.37:g.68264348C>G	ENSP00000454554:p.Gly680Arg					ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.G670R	p.G680R	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			14	2226	-			680					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.2038G>C		.	.	.	.	.	.	.	.	.	.	C	26.1	4.701858	0.88924	.	.	ENSG00000103067	ENST00000473183	T	0.15256	2.44	5.93	5.93	0.95920	.	0.097077	0.64402	D	0.000001	T	0.44623	0.1302	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.20638	-1.0269	10	0.87932	D	0	-14.0327	20.3437	0.98782	0.0:1.0:0.0:0.0	.	680;670	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	R	670	ENSP00000418748:G670R	ENSP00000418748:G670R	G	-	1	0	ESRP2	66821849	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.000000	0.70678	2.815000	0.96918	0.561000	0.74099	GGT		0.632	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		25	67	0	0	0	0.00333	0	25	67				
SLC38A8	146167	broad.mit.edu	37	16	84050184	84050184	+	Missense_Mutation	SNP	G	G	T	rs558499506		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:84050184G>T	ENST00000299709.3	-	8	1101	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	368					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTCGCTGAGGTCAGGCATA	0.612																																							uc002fhg.1		NA																	0					0						c.(1102-1104)CTC>ATC		solute carrier family 38, member 8							90.0	76.0	81.0					16																	84050184		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050184G>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1102C>A	16.37:g.84050184G>T	ENSP00000299709:p.Leu368Ile						p.L368I	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			8	1102	-			368			Helical; (Potential).			Missense_Mutation	SNP	ENST00000299709.3	37	c.1102C>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	0.130	-1.114915	0.01799	.	.	ENSG00000166558	ENST00000299709	T	0.03982	3.74	4.47	3.43	0.39272	.	0.255234	0.38492	N	0.001662	T	0.01523	0.0049	N	0.01146	-0.985	0.36682	D	0.879129	B	0.17268	0.021	B	0.19666	0.026	T	0.40627	-0.9553	10	0.02654	T	1	.	9.046	0.36347	0.0:0.0:0.5442:0.4558	.	368	A6NNN8	S38A8_HUMAN	I	368	ENSP00000299709:L368I	ENSP00000299709:L368I	L	-	1	0	SLC38A8	82607685	1.000000	0.71417	0.965000	0.40720	0.161000	0.22273	6.185000	0.72013	2.038000	0.60285	0.478000	0.44815	CTC		0.612	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		17	51	1	0	2.48551e-13	0.00499	3.58205e-13	17	51				
MTHFSD	64779	broad.mit.edu	37	16	86575712	86575712	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:86575712A>T	ENST00000360900.6	-	6	575	c.550T>A	c.(550-552)Tgc>Agc	p.C184S	MTHFSD_ENST00000546093.1_Missense_Mutation_p.C21S|MTHFSD_ENST00000381214.5_Missense_Mutation_p.C184S|MTHFSD_ENST00000543303.2_Missense_Mutation_p.C183S|MTHFSD_ENST00000322911.6_Missense_Mutation_p.C183S	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	184							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCACCTGGCAGTCGTGGACG	0.577																																							uc002fjn.2		NA																	0					0						c.(550-552)TGC>AGC		methenyltetrahydrofolate synthetase domain							58.0	60.0	59.0					16																	86575712		2085	4217	6302	SO:0001583	missense	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86575712A>T	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.550T>A	16.37:g.86575712A>T	ENSP00000354152:p.Cys184Ser					MTHFSD_uc010voo.1_Missense_Mutation_p.C164S|MTHFSD_uc002fjo.2_Missense_Mutation_p.C21S|MTHFSD_uc002fjm.2_Missense_Mutation_p.C183S|MTHFSD_uc010vop.1_Missense_Mutation_p.C21S|MTHFSD_uc010voq.1_Missense_Mutation_p.C183S|MTHFSD_uc010vor.1_Missense_Mutation_p.C184S|MTHFSD_uc002fjp.2_Missense_Mutation_p.C164S	p.C184S	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN			6	601	-			184					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	c.550T>A	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360004	0.82353	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911;ENST00000546093	T;T;T;T	0.43688	1.03;1.03;1.03;0.94	5.6	5.6	0.85130	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	L	0.55834	1.745	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999	T	0.60167	-0.7316	10	0.49607	T	0.09	-12.9874	14.95	0.71064	1.0:0.0:0.0:0.0	.	184;183;21;184;183	E9PAM1;B7ZLC0;B3KUB0;Q2M296;Q2M296-2	.;.;.;MTHSD_HUMAN;.	S	182;184;184;183;21	ENSP00000370612:C184S;ENSP00000354152:C184S;ENSP00000326777:C183S;ENSP00000438761:C21S	ENSP00000326777:C183S	C	-	1	0	MTHFSD	85133213	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.665000	0.74442	2.111000	0.64477	0.533000	0.62120	TGC		0.577	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		15	48	0	0	0	0.004007	0	15	48				
TRPV3	162514	broad.mit.edu	37	17	3432144	3432144	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:3432144G>C	ENST00000576742.1	-	10	1709	c.1388C>G	c.(1387-1389)cCc>cGc	p.P463R	TRPV3_ENST00000301365.4_Missense_Mutation_p.P463R|TRPV3_ENST00000572519.1_Missense_Mutation_p.P463R	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	463					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CTCCTCCCGGGGGCGGTAGTA	0.562																																							uc002fvt.1		NA																	0				ovary(4)	4						c.(1387-1389)CCC>CGC		transient receptor potential cation channel,	Menthol(DB00825)						84.0	85.0	84.0					17																	3432144		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3432144G>C	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1388C>G	17.37:g.3432144G>C	ENSP00000461518:p.Pro463Arg					TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.P447R|TRPV3_uc010vri.1_Missense_Mutation_p.P418R|TRPV3_uc010vrj.1_Missense_Mutation_p.P447R|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.P447R|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P463R|TRPV3_uc002fvu.2_Missense_Mutation_p.P463R|TRPV3_uc010vrn.1_Missense_Mutation_p.P45R	p.P463R	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			10	1710	-			463			Extracellular (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1388C>G	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195158	0.78902	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.91237	-2.81	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.96194	0.8759	M	0.90705	3.14	0.54753	D	0.999987	D;D;D;D;D;P;D;D	0.89917	0.998;0.987;0.997;1.0;0.997;0.835;1.0;1.0	D;D;D;D;D;P;D;D	0.91635	0.967;0.976;0.963;0.998;0.972;0.607;0.998;0.999	D	0.97012	0.9737	10	0.87932	D	0	-7.5666	17.4956	0.87716	0.0:0.0:1.0:0.0	.	45;447;447;463;447;463;463;463	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	R	463;463;447	ENSP00000301365:P463R	ENSP00000301365:P463R	P	-	2	0	TRPV3	3378894	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.661000	0.91125	2.457000	0.83068	0.655000	0.94253	CCC		0.562	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		20	44	0	0	0	0.002299	0	20	44				
ZNF232	7775	broad.mit.edu	37	17	5009405	5009405	+	Missense_Mutation	SNP	T	T	C	rs201796374		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:5009405T>C	ENST00000250076.3	-	5	1703	c.1049A>G	c.(1048-1050)cAg>cGg	p.Q350R	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.Q341R|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	323					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATGAATTCTCTGATGCTGACC	0.453																																							uc002gas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(967-969)CAG>CGG		zinc finger protein 232							106.0	108.0	107.0					17																	5009405		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009405T>C	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1049A>G	17.37:g.5009405T>C	ENSP00000250076:p.Gln350Arg					ZNF232_uc002gar.1_Missense_Mutation_p.Q341R|ZNF232_uc002gat.2_Missense_Mutation_p.Q350R	p.Q323R	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1722	-			323			C2H2-type 2.			Missense_Mutation	SNP	ENST00000250076.3	37	c.968A>G	CCDS11068.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	8.198	0.797527	0.16327	.	.	ENSG00000167840	ENST00000250076	T	0.34667	1.35	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31082	N	0.008291	T	0.34395	0.0896	N	0.20445	0.575	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.58660	0.843;0.824	T	0.05354	-1.0890	10	0.35671	T	0.21	.	9.4368	0.38643	0.0:0.0:0.0:1.0	.	323;314	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	R	350	ENSP00000250076:Q350R	ENSP00000250076:Q350R	Q	-	2	0	ZNF232	4950129	0.010000	0.17322	1.000000	0.80357	0.997000	0.91878	1.287000	0.33284	1.531000	0.49152	0.533000	0.62120	CAG		0.453	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		39	102	0	0	0	0.006999	0	39	102				
USP6	9098	broad.mit.edu	37	17	5064886	5064886	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:5064886C>T	ENST00000574788.1	+	32	5122	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	USP6_ENST00000250066.6_Silent_p.S964S|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Silent_p.S647S			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	964	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATGGGAACTCCTGTGCTTGGT	0.363			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																		uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(2890-2892)TCC>TCT		ubiquitin specific protease 6							131.0	123.0	126.0					17																	5064886		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5064886C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2892C>T	17.37:g.5064886C>T						USP6_uc002gav.1_Silent_p.S964S|USP6_uc010ckz.1_Silent_p.S647S	p.S964S	NM_004505	NP_004496	P35125	UBP6_HUMAN			32	5122	+			964					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.2892C>T	CCDS11069.2																																																																																				0.363	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		15	49	0	0	0	0.00499	0	15	49				
EFCAB5	374786	broad.mit.edu	37	17	28410034	28410034	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:28410034G>A	ENST00000394835.3	+	18	3744	c.3552G>A	c.(3550-3552)acG>acA	p.T1184T	EFCAB5_ENST00000320856.5_Silent_p.T1060T|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1184							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCATCACTACGTACTTTGTAG	0.488																																							uc002het.2		NA																	0				ovary(1)|skin(1)	2						c.(3550-3552)ACG>ACA		EF-hand calcium binding domain 5 isoform a							105.0	94.0	98.0					17																	28410034		2081	4205	6286	SO:0001819	synonymous_variant	374786						calcium ion binding	g.chr17:28410034G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3552G>A	17.37:g.28410034G>A						EFCAB5_uc010cse.2_Silent_p.T939T|EFCAB5_uc010csf.2_Intron	p.T1184T	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			18	3744	+			1184					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	c.3552G>A	CCDS11254.2																																																																																				0.488	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		14	26	0	0	0	0.001855	0	14	26				
GPR179	440435	broad.mit.edu	37	17	36485944	36485944	+	Silent	SNP	G	G	T	rs201856624	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:36485944G>T	ENST00000342292.4	-	11	3528	c.3508C>A	c.(3508-3510)Cgg>Agg	p.R1170R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1170					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCCCTCCCGTTGACAGACT	0.577																																							uc002hpz.2		NA																	0				ovary(3)	3						c.(3508-3510)CGG>AGG		GPR158-like 1 precursor							188.0	192.0	191.0					17																	36485944		2137	4230	6367	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485944G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3508C>A	17.37:g.36485944G>T							p.R1170R	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3529	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1170			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.3508C>A	CCDS42308.1																																																																																				0.577	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			55	162	1	0	2.84144e-21	0.00361	4.88528e-21	55	162				
RAPGEFL1	51195	broad.mit.edu	37	17	38347009	38347009	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:38347009C>T	ENST00000456989.2	+	8	923	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.H238Y|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.H238Y|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.H287Y|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	444					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGATGTGTGCATGAGGTGGG	0.602																																					Esophageal Squamous(28;274 750 6870 14218 42203)	Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(712-714)CAT>TAT		Rap guanine nucleotide exchange factor							137.0	116.0	123.0					17																	38347009		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38347009C>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.877C>T	17.37:g.38347009C>T	ENSP00000394530:p.His293Tyr					RAPGEFL1_uc010wfd.1_Missense_Mutation_p.H174Y	p.H238Y	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			8	1202	+			444			Ras-GEF.			Missense_Mutation	SNP	ENST00000456989.2	37	c.712C>T		.	.	.	.	.	.	.	.	.	.	C	30	5.053551	0.93793	.	.	ENSG00000108352	ENST00000456989;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T	0.32515	1.45;1.45;1.45	5.06	5.06	0.68205	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.120250	0.53938	D	0.000041	T	0.59432	0.2193	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.85130	0.997;0.982	T	0.64575	-0.6375	10	0.87932	D	0	.	17.3514	0.87326	0.0:1.0:0.0:0.0	.	174;444	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	Y	293;287;238;443;238	ENSP00000394530:H293Y;ENSP00000438631:H287Y;ENSP00000408322:H238Y	ENSP00000264644:H443Y	H	+	1	0	RAPGEFL1	35600535	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.969000	0.76092	2.625000	0.88918	0.491000	0.48974	CAT		0.602	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		29	119	0	0	0	0.010818	0	29	119				
ITGB3	3690	broad.mit.edu	37	17	45361973	45361973	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:45361973C>A	ENST00000559488.1	+	4	542	c.526C>A	c.(526-528)Cgg>Agg	p.R176R	ITGB3_ENST00000560629.1_Missense_Mutation_p.A164E|ITGB3_ENST00000571680.1_Silent_p.R176R|ITGB3_ENST00000435993.2_Silent_p.R129R	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	176	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CAGTAACCTGCGGATTGGCTT	0.537																																							uc002ilj.2		NA																	0				central_nervous_system(5)|large_intestine(1)	6						c.(526-528)CGG>AGG		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						124.0	125.0	125.0					17																	45361973		2203	4300	6503	SO:0001819	synonymous_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45361973C>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.526C>A	17.37:g.45361973C>A						ITGB3_uc002ili.1_Silent_p.R176R|ITGB3_uc010wkr.1_RNA	p.R176R	NM_000212	NP_000203	P05106	ITB3_HUMAN			4	546	+			176			VWFA.|Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	ENST00000559488.1	37	c.526C>A	CCDS11511.1																																																																																				0.537	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		44	98	1	0	5.44703e-19	0.009718	8.94651e-19	44	98				
TBKBP1	9755	broad.mit.edu	37	17	45773563	45773563	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:45773563G>T	ENST00000361722.3	+	1	934	c.85G>T	c.(85-87)Gac>Tac	p.D29Y		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						CAGTCCCGGAGACCCCTCGCT	0.647																																							uc002ilu.2		NA																	0					0						c.(85-87)GAC>TAC		TBK1 binding protein 1							45.0	53.0	50.0					17																	45773563		2058	4178	6236	SO:0001583	missense	9755				innate immune response			g.chr17:45773563G>T	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.85G>T	17.37:g.45773563G>T	ENSP00000354777:p.Asp29Tyr						p.D29Y	NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN			1	934	+			29						Missense_Mutation	SNP	ENST00000361722.3	37	c.85G>T	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	G	6.657	0.489777	0.12702	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.44083	0.93;0.93	4.57	3.58	0.41010	.	0.392581	0.25642	N	0.029264	T	0.26412	0.0645	N	0.08118	0	0.37237	D	0.905952	B	0.24092	0.097	B	0.26693	0.072	T	0.27536	-1.0071	10	0.72032	D	0.01	-22.4583	14.4747	0.67539	0.0:0.1574:0.8426:0.0	.	29	A7MCY6	TBKB1_HUMAN	Y	29	ENSP00000354777:D29Y;ENSP00000446365:D29Y	ENSP00000354777:D29Y	D	+	1	0	TBKBP1	43128562	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	3.526000	0.53509	1.280000	0.44463	0.561000	0.74099	GAC		0.647	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		30	36	1	0	3.99451e-17	0.009535	6.3139e-17	30	36				
POLG2	11232	broad.mit.edu	37	17	62479064	62479064	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:62479064C>T	ENST00000539111.2	-	6	1230	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	388					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GGGGCCTCTTCCTACATCCAA	0.408																																					Colon(3;18 21 435 17652 48887)	Colon(3;18 21 435 17652 48887)	uc002jei.2		NA																	0				central_nervous_system(1)	1						c.(1162-1164)GGA>GAA		DNA polymerase subunit gamma-2, mitochondrial							71.0	71.0	71.0					17																	62479064		2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62479064C>T	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1163G>A	17.37:g.62479064C>T	ENSP00000442563:p.Gly388Glu						p.G388E	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		6	1246	-	Breast(5;2.15e-14)		388					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.1163G>A	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095730	0.76870	.	.	ENSG00000256525	ENST00000539111	D	0.85861	-2.04	5.91	5.91	0.95273	Anticodon-binding (2);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88893	0.3347	10	0.49607	T	0.09	-20.7656	14.9452	0.71026	0.0:0.858:0.142:0.0	.	388	Q9UHN1	DPOG2_HUMAN	E	388	ENSP00000442563:G388E	ENSP00000442563:G388E	G	-	2	0	POLG2	59909526	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.554000	0.53720	2.816000	0.96949	0.644000	0.83932	GGA		0.408	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		22	48	0	0	0	0.005443	0	22	48				
ENPP7	339221	broad.mit.edu	37	17	77709293	77709293	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:77709293G>T	ENST00000328313.5	+	3	1072	c.851G>T	c.(850-852)gGg>gTg	p.G284V		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACCAAACGGGATGCTGCTC	0.582																																							uc002jxa.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(850-852)GGG>GTG		ectonucleotide pyrophosphatase/phosphodiesterase							108.0	84.0	92.0					17																	77709293		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709293G>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.851G>T	17.37:g.77709293G>T	ENSP00000332656:p.Gly284Val						p.G284V	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	871	+			284						Missense_Mutation	SNP	ENST00000328313.5	37	c.851G>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155566	0.78114	.	.	ENSG00000182156	ENST00000328313	T	0.74632	-0.86	5.16	5.16	0.70880	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.82582	0.5068	L	0.48218	1.51	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.82263	-0.0544	10	0.44086	T	0.13	-62.4746	18.6548	0.91448	0.0:0.0:1.0:0.0	.	284	Q6UWV6	ENPP7_HUMAN	V	284	ENSP00000332656:G284V	ENSP00000332656:G284V	G	+	2	0	ENPP7	75323888	1.000000	0.71417	0.974000	0.42286	0.975000	0.68041	5.285000	0.65633	2.400000	0.81607	0.655000	0.94253	GGG		0.582	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		17	53	1	0	3.41278e-10	0.00499	4.58154e-10	17	53				
CDH7	1005	broad.mit.edu	37	18	63430170	63430170	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr18:63430170G>T	ENST00000397968.2	+	2	518	c.92G>T	c.(91-93)aGg>aTg	p.R31M	CDH7_ENST00000323011.3_Missense_Mutation_p.R31M|CDH7_ENST00000536984.2_Missense_Mutation_p.R31M	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	31					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAACTCTCAAGGTCCAGATCA	0.468																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(91-93)AGG>ATG		cadherin 7, type 2 preproprotein							109.0	103.0	105.0					18																	63430170		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63430170G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.92G>T	18.37:g.63430170G>T	ENSP00000381058:p.Arg31Met					CDH7_uc002lka.2_Missense_Mutation_p.R31M|CDH7_uc002lkb.2_Missense_Mutation_p.R31M	p.R31M	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			2	417	+		Esophageal squamous(42;0.129)	31			Extracellular (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.92G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841952	0.32513	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.55930	0.49;0.51;0.49	5.56	5.56	0.83823	.	0.063640	0.64402	D	0.000006	T	0.49609	0.1567	L	0.53249	1.67	0.36914	D	0.891055	B;B	0.19200	0.034;0.001	B;B	0.17722	0.019;0.004	T	0.53287	-0.8460	10	0.46703	T	0.11	.	14.386	0.66945	0.0:0.0:0.8523:0.1477	.	31;31	F5H5X9;Q9ULB5	.;CADH7_HUMAN	M	31	ENSP00000319166:R31M;ENSP00000443030:R31M;ENSP00000381058:R31M	ENSP00000319166:R31M	R	+	2	0	CDH7	61581150	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.160000	0.50739	2.610000	0.88304	0.650000	0.86243	AGG		0.468	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		15	30	1	0	8.60227e-14	0.004007	1.26453e-13	15	30				
CDH19	28513	broad.mit.edu	37	18	64211401	64211401	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr18:64211401C>A	ENST00000540086.1	-	7	1267	c.1021G>T	c.(1021-1023)Gtt>Ttt	p.V341F	CDH19_ENST00000262150.2_Missense_Mutation_p.V341F	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	449	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGCTCAGGAACATGATGGTTT	0.418																																							uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1021-1023)GTT>TTT		cadherin 19, type 2 preproprotein							154.0	135.0	141.0					18																	64211401		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64211401C>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1021G>T	18.37:g.64211401C>A	ENSP00000439593:p.Val341Phe					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.V341F|CDH19_uc002lkd.2_Missense_Mutation_p.V341F	p.V341F	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			7	1159	-		Esophageal squamous(42;0.0132)	341			Cadherin 3.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1021G>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	5.508	0.278721	0.10458	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.20598	2.06;2.06	5.62	3.47	0.39725	Cadherin (4);Cadherin-like (1);	0.339668	0.30428	N	0.009644	T	0.42245	0.1194	M	0.82132	2.575	0.09310	N	1	D;B	0.57899	0.981;0.121	P;B	0.61533	0.89;0.215	T	0.23297	-1.0192	10	0.87932	D	0	.	10.3718	0.44058	0.0:0.7953:0.0:0.2047	.	341;341	F5H1K0;Q9H159	.;CAD19_HUMAN	F	341;341;286	ENSP00000262150:V341F;ENSP00000439593:V341F	ENSP00000262150:V341F	V	-	1	0	CDH19	62362381	0.033000	0.19621	0.182000	0.23118	0.474000	0.32979	0.537000	0.23144	1.531000	0.49152	0.650000	0.86243	GTT		0.418	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		8	39	1	0	0.00307968	0.00308	0.00315479	8	39				
STK11	6794	broad.mit.edu	37	19	1207079	1207079	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:1207079G>T	ENST00000326873.7	+	1	1340	c.167G>T	c.(166-168)gGg>gTg	p.G56V	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				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.?(3)|p.G56V(1)|p.E57fs*107(1)|p.G56fs*4(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)		GACCTGCTGGGGGAAGGCTCT	0.612		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		26	Whole gene deletion(20)|Deletion - Frameshift(2)|Unknown(2)|Substitution - Missense(1)|Insertion - Frameshift(1)	p.0?(19)|p.?(3)|p.G56V(1)|p.G56W(1)|p.G56fs*107(1)|p.G56fs*4(1)|p.G52_P179del(1)	cervix(15)|lung(5)|breast(1)|skin(1)|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						c.(166-168)GGG>GTG		serine/threonine protein kinase 11							41.0	46.0	44.0					19																	1207079		2087	4199	6286	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.chr19:1207079G>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.167G>T	19.37:g.1207079G>T	ENSP00000324856:p.Gly56Val	TSP Lung(3;<1E-08)					p.G56V	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)	1	1282	+		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)	56			ATP (By similarity).|Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.167G>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931622	0.92389	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.82893	-1.66	3.9	3.9	0.45041	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	0.94282	0.8163	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96416	0.9308	10	0.87932	D	0	-36.2984	14.9008	0.70678	0.0:0.0:1.0:0.0	.	56	Q15831	STK11_HUMAN	V	56	ENSP00000324856:G56V	ENSP00000324856:G56V	G	+	2	0	STK11	1158079	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	9.527000	0.98044	1.733000	0.51620	0.462000	0.41574	GGG		0.612	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		8	13	1	0	7.48243e-07	0.006214	8.695e-07	8	13				
STK11	6794	broad.mit.edu	37	19	1207144	1207144	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:1207144A>G	ENST00000326873.7	+	1	1405	c.232A>G	c.(232-234)Aag>Gag	p.K78E	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				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.?(3)|p.K78E(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)		GAGGGCCGTCAAGATCCTCAA	0.617		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		24	Whole gene deletion(20)|Unknown(2)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.0?(19)|p.?(3)|p.G52_P179del(1)|p.K78E(1)	cervix(15)|lung(4)|skin(1)|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						c.(232-234)AAG>GAG		serine/threonine protein kinase 11							35.0	39.0	37.0					19																	1207144		2040	4176	6216	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.chr19:1207144A>G	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.232A>G	19.37:g.1207144A>G	ENSP00000324856:p.Lys78Glu	TSP Lung(3;<1E-08)					p.K78E	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)	1	1347	+		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)	78	K->M: Loss of kinase activity, leading to reduced autophosphorylation and acting as a dominant-negative mutant.		Protein kinase.	ATP (Probable).	B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.232A>G	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473483	0.84640	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.96200	-3.94	3.9	3.9	0.45041	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	0.98036	0.9353	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98604	1.0660	10	0.87932	D	0	-23.8097	11.9419	0.52905	1.0:0.0:0.0:0.0	.	78	Q15831	STK11_HUMAN	E	78	ENSP00000324856:K78E	ENSP00000324856:K78E	K	+	1	0	STK11	1158144	1.000000	0.71417	0.992000	0.48379	0.625000	0.37756	9.018000	0.93657	1.416000	0.47057	0.379000	0.24179	AAG		0.617	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		6	8	0	0	0	0.001984	0	6	8				
KEAP1	9817	broad.mit.edu	37	19	10602739	10602739	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:10602739A>T	ENST00000171111.5	-	3	1386	c.839T>A	c.(838-840)tTc>tAc	p.F280Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.F280Y|KEAP1_ENST00000588024.1_5'UTR|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	280	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CATCTGCAGGAAGTTCGGCGT	0.617																																							uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(838-840)TTC>TAC		kelch-like ECH-associated protein 1							62.0	62.0	62.0					19																	10602739		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602739A>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.839T>A	19.37:g.10602739A>T	ENSP00000171111:p.Phe280Tyr					KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.F280Y	p.F280Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	995	-			280			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.839T>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158264	0.78114	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.67345	-0.26;-0.26	5.48	5.48	0.80851	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.35341	1.055	0.80722	D	1	B	0.29162	0.235	B	0.34824	0.19	T	0.54022	-0.8355	10	0.21014	T	0.42	.	13.5387	0.61662	1.0:0.0:0.0:0.0	.	280	Q14145	KEAP1_HUMAN	Y	280	ENSP00000171111:F280Y;ENSP00000377245:F280Y	ENSP00000171111:F280Y	F	-	2	0	KEAP1	10463739	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.198000	0.77823	2.092000	0.63282	0.379000	0.24179	TTC		0.617	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		31	41	0	0	0	0.003271	0	31	41				
ZNF98	148198	broad.mit.edu	37	19	22605004	22605005	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:22605004_22605005AG>TT	ENST00000357774.5	-	1	143_144	c.22_23CT>AA	c.(22-24)CTa>AAa	p.L8K	AC011516.1_ENST00000599129.1_lincRNA|ZNF98_ENST00000601553.1_Missense_Mutation_p.L8K	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CACCATTTCTAGGCTTCCAAGG	0.614																																							uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(22-24)CTA>AAA		zinc finger protein 98																																				SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22605004_22605005AG>TT		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.22_23delinsTT	19.37:g.22605004_22605005delinsTT	ENSP00000350418:p.Leu8Lys						p.L8K	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			1	144_145	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	8						Missense_Mutation	DNP	ENST00000357774.5	37	c.22_23CT>AA	CCDS46031.1																																																																																				0.614	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		43	76	0	0	0	0.004672	0	43	76				
AXL	558	broad.mit.edu	37	19	41765541	41765541	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:41765541C>A	ENST00000301178.4	+	20	2607	c.2417C>A	c.(2416-2418)aCa>aAa	p.T806K	AXL_ENST00000359092.3_Missense_Mutation_p.T797K|AXL_ENST00000593513.1_Missense_Mutation_p.T538K|HNRNPUL1_ENST00000595018.1_5'Flank|HNRNPUL1_ENST00000352456.3_5'Flank	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	806	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTGGAGAACACACTGAAGGCC	0.552																																							uc010ehj.2		NA																	0				lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(2416-2418)ACA>AAA		AXL receptor tyrosine kinase isoform 1							76.0	78.0	77.0					19																	41765541		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41765541C>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2417C>A	19.37:g.41765541C>A	ENSP00000301178:p.Thr806Lys					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.T797K	p.T806K	NM_021913	NP_068713	P30530	UFO_HUMAN			20	2607	+			806			Cytoplasmic (Potential).|Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2417C>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930903	0.73327	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.61742	0.08;0.08	4.85	4.85	0.62838	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.261243	0.37809	N	0.001923	T	0.54013	0.1832	L	0.27053	0.805	0.32886	D	0.51125	D;D	0.65815	0.995;0.991	P;P	0.58660	0.843;0.701	T	0.60944	-0.7162	10	0.33141	T	0.24	-7.578	7.2009	0.25881	0.0:0.8179:0.0:0.1821	.	797;806	P30530-2;P30530	.;UFO_HUMAN	K	806;797	ENSP00000301178:T806K;ENSP00000351995:T797K	ENSP00000301178:T806K	T	+	2	0	AXL	46457381	0.974000	0.33945	0.696000	0.30242	0.948000	0.59901	2.393000	0.44442	2.497000	0.84241	0.591000	0.81541	ACA		0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			20	59	1	0	3.51602e-12	0.008871	4.92242e-12	20	59				
PSG6	5675	broad.mit.edu	37	19	43414784	43414784	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:43414784T>A	ENST00000292125.2	-	3	698	c.654A>T	c.(652-654)atA>atT	p.I218I	PSG6_ENST00000402603.4_Silent_p.I218I|PSG6_ENST00000187910.2_Silent_p.I218I	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	218	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CTGGGTTCCGTATTTCACATT	0.502																																							uc002ovj.1		NA																	0				ovary(1)|skin(1)	2						c.(652-654)ATA>ATT		pregnancy specific beta-1-glycoprotein 6 isoform							151.0	164.0	159.0					19																	43414784		2202	4296	6498	SO:0001819	synonymous_variant	5675				female pregnancy	extracellular region		g.chr19:43414784T>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.654A>T	19.37:g.43414784T>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Silent_p.I225I|PSG6_uc002ovi.2_Silent_p.I219I|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Silent_p.I218I|PSG6_uc002ovg.1_Silent_p.I218I	p.I218I	NM_002782	NP_002773	Q00889	PSG6_HUMAN			3	706	-		Prostate(69;0.00899)	218			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.654A>T	CCDS12613.1																																																																																				0.502	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		127	267	0	0	0	0.00361	0	127	267				
CPT1C	126129	broad.mit.edu	37	19	50212025	50212025	+	Missense_Mutation	SNP	G	G	T	rs199536158		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:50212025G>T	ENST00000392518.4	+	14	1867	c.1495G>T	c.(1495-1497)Ggc>Tgc	p.G499C	CPT1C_ENST00000323446.5_Missense_Mutation_p.G499C|CPT1C_ENST00000354199.5_Missense_Mutation_p.G499C|CPT1C_ENST00000598293.1_Missense_Mutation_p.G499C|CPT1C_ENST00000405931.2_Missense_Mutation_p.G488C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	499					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTCAACAGACGGCCACTGCAA	0.612																																							uc002ppj.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1495-1497)GGC>TGC		carnitine palmitoyltransferase 1C isoform 2							118.0	108.0	111.0					19																	50212025		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50212025G>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1495G>T	19.37:g.50212025G>T	ENSP00000376303:p.Gly499Cys					CPT1C_uc002ppl.3_Missense_Mutation_p.G465C|CPT1C_uc002ppi.2_Missense_Mutation_p.G416C|CPT1C_uc002ppk.2_Missense_Mutation_p.G488C|CPT1C_uc010eng.2_Missense_Mutation_p.G499C|CPT1C_uc010enh.2_Missense_Mutation_p.G499C|CPT1C_uc010ybc.1_Missense_Mutation_p.G370C|CPT1C_uc010eni.1_Missense_Mutation_p.G156C	p.G499C	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	13	1700	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	499			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1495G>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377603	0.82682	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	4.42	4.42	0.53409	.	0.000000	0.49916	D	0.000133	D	0.95137	0.8424	M	0.90369	3.11	0.58432	D	0.999999	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	0.95977	0.8974	10	0.87932	D	0	-30.5613	14.5977	0.68419	0.0:0.0:1.0:0.0	.	370;499;488;499	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	C	499;499;488;499;370	ENSP00000376303:G499C;ENSP00000346138:G499C;ENSP00000384465:G488C;ENSP00000319343:G499C	ENSP00000295404:G370C	G	+	1	0	CPT1C	54903837	1.000000	0.71417	0.979000	0.43373	0.906000	0.53458	9.222000	0.95196	2.292000	0.77174	0.456000	0.33151	GGC		0.612	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		21	85	1	0	7.45023e-12	0.010504	1.03319e-11	21	85				
SIGLEC10	89790	broad.mit.edu	37	19	51920651	51920652	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:51920651_51920652AC>TT	ENST00000339313.5	-	2	221_222	c.105_106GT>AA	c.(103-108)ctGTgc>ctAAgc	p.C36S	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.C36S|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.C36S|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.C36S|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.C36S|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.C36S|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.C36S|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.C36S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.C36S			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	36	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACAGAGATGCACAGGCCCTCCG	0.579																																							uc002pwo.2		NA																	0				skin(1)	1						c.(103-108)CTGTGC>CTAAGC		sialic acid binding Ig-like lectin 10 precursor																																				SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920651_51920652AC>TT	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.105_106delinsTT	19.37:g.51920651_51920652delinsTT	ENSP00000345243:p.Cys36Ser					SIGLEC10_uc002pwp.2_Missense_Mutation_p.C36S|SIGLEC10_uc002pwq.2_Missense_Mutation_p.C36S|SIGLEC10_uc002pwr.2_Missense_Mutation_p.C36S|SIGLEC10_uc010ycy.1_Missense_Mutation_p.C36S|SIGLEC10_uc010ycz.1_Missense_Mutation_p.C36S|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.C20S	p.C36S	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	721_722	-		all_neural(266;0.0199)	36			Extracellular (Potential).|Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	DNP	ENST00000339313.5	37	c.105_106GT>AA	CCDS12832.1																																																																																				0.579	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		11	68	0	0	0	0.004672	0	11	68				
SIGLEC8	27181	broad.mit.edu	37	19	51961268	51961268	+	Missense_Mutation	SNP	C	C	T	rs186721103		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:51961268C>T	ENST00000321424.3	-	1	440	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125Q|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125Q	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	125					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTCTCTAGCCGAAAGAAATA	0.498																																							uc002pwt.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(373-375)CGG>CAG		sialic acid binding Ig-like lectin 8 precursor							130.0	129.0	129.0					19																	51961268		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961268C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.374G>A	19.37:g.51961268C>T	ENSP00000321077:p.Arg125Gln					SIGLEC8_uc010yda.1_Missense_Mutation_p.R125Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.R125Q	p.R125Q	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	441	-		all_neural(266;0.0199)	125			Extracellular (Potential).	Sialic acid (By similarity).	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.374G>A	CCDS33086.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	13.46	2.242973	0.39697	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.64085	-0.08;-0.08;-0.08	2.56	-1.32	0.09201	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.069320	0.07486	N	0.904738	T	0.73745	0.3626	M	0.82132	2.575	0.09310	N	1	P;D;P	0.89917	0.941;1.0;0.871	B;D;P	0.77004	0.053;0.989;0.501	T	0.58662	-0.7597	10	0.45353	T	0.12	.	2.2621	0.04069	0.2442:0.4426:0.0:0.3131	.	125;125;125	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	Q	125	ENSP00000389142:R125Q;ENSP00000321077:R125Q;ENSP00000339448:R125Q	ENSP00000321077:R125Q	R	-	2	0	SIGLEC8	56653080	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.001000	0.13038	-0.346000	0.08312	0.398000	0.26397	CGG		0.498	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		62	112	0	0	0	0.00361	0	62	112				
ZNF578	147660	broad.mit.edu	37	19	53014459	53014459	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:53014459A>T	ENST00000421239.2	+	6	1069	c.825A>T	c.(823-825)gcA>gcT	p.A275A	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GATACCTTGCACGCCATCGTA	0.378																																							uc002pzp.3		NA																	0					0						c.(823-825)GCA>GCT		zinc finger protein 578							117.0	121.0	119.0					19																	53014459		2203	4299	6502	SO:0001819	synonymous_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014459A>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.825A>T	19.37:g.53014459A>T							p.A275A	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1069	+			50			C2H2-type 2; degenerate.		B4DR51|I3L1Y6	Silent	SNP	ENST00000421239.2	37	c.825A>T	CCDS54310.1																																																																																				0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		37	97	0	0	0	0.003755	0	37	97				
ZNF525	170958	broad.mit.edu	37	19	53879144	53879144	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:53879144C>T	ENST00000475179.1	+	3	251	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ZNF525_ENST00000474037.1_Missense_Mutation_p.S46F|ZNF525_ENST00000467003.1_Missense_Mutation_p.S10F|ZNF525_ENST00000593918.1_Missense_Mutation_p.S46F|ZNF525_ENST00000491101.1_Missense_Mutation_p.S46F			Q8N782	ZN525_HUMAN	zinc finger protein 525	0					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)|kidney(3)|lung(3)	9						AACCTGGTCTCCCTGGGTGAG	0.473																																							uc010eqn.2		NA																	0					0						c.(28-30)TCC>TTC		Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.																																				SO:0001583	missense	170958							g.chr19:53879144C>T	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000475179.1:c.137C>T	19.37:g.53879144C>T	ENSP00000418468:p.Ser46Phe					ZNF525_uc002qbl.2_RNA|ZNF765_uc010ydx.1_5'UTR	p.S10F	NR_003699						3	222	+								Q8TF23	Missense_Mutation	SNP	ENST00000475179.1	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	C	3.468	-0.108618	0.06924	.	.	ENSG00000203326	ENST00000474037;ENST00000491101;ENST00000467003;ENST00000475179	T;T;T;T	0.09163	4.02;4.02;3.01;4.02	1.63	1.63	0.23807	.	.	.	.	.	T	0.17323	0.0416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02958	-1.1089	6	0.42905	T	0.14	.	10.265	0.43449	0.0:1.0:0.0:0.0	.	.	.	.	F	46;46;10;46	ENSP00000417696:S46F;ENSP00000420476:S46F;ENSP00000419136:S10F;ENSP00000418468:S46F	ENSP00000419136:S10F	S	+	2	0	ZNF525	58570956	0.009000	0.17119	0.886000	0.34754	0.238000	0.25445	0.854000	0.27791	0.892000	0.36259	0.184000	0.17185	TCC		0.473	ZNF525-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000350553.1	NR_003699		11	145	0	0	0	0.001368	0	11	145				
NLRP2	55655	broad.mit.edu	37	19	55495055	55495055	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:55495055G>A	ENST00000543010.1	+	6	2132	c.1989G>A	c.(1987-1989)ccG>ccA	p.P663P	NLRP2_ENST00000448584.2_Silent_p.P663P|NLRP2_ENST00000538819.1_Silent_p.P639P|NLRP2_ENST00000339757.7_Silent_p.P641P|NLRP2_ENST00000263437.6_Silent_p.P660P|NLRP2_ENST00000391721.4_Silent_p.P639P|NLRP2_ENST00000427260.2_Silent_p.P640P|NLRP2_ENST00000537859.1_Silent_p.P641P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAATCTCCCGGAGAATGTCA	0.488																																							uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(1987-1989)CCG>CCA		NLR family, pyrin domain containing 2							57.0	54.0	55.0					19																	55495055		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55495055G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1989G>A	19.37:g.55495055G>A						NLRP2_uc010yfp.1_Silent_p.P640P|NLRP2_uc010esn.2_Silent_p.P639P|NLRP2_uc010eso.2_Silent_p.P660P|NLRP2_uc010esp.2_Silent_p.P641P	p.P663P	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	2075	+			663					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1989G>A	CCDS12913.1																																																																																				0.488	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		15	50	0	0	0	0.006122	0	15	50				
NLRP5	126206	broad.mit.edu	37	19	56539267	56539267	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:56539267C>A	ENST00000390649.3	+	7	1668	c.1668C>A	c.(1666-1668)ctC>ctA	p.L556L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	556	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.L556L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCAAGGACTCGGGGAGTCTG	0.532																																							uc002qmj.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1666-1668)CTC>CTA		NACHT, LRR and PYD containing protein 5							56.0	60.0	59.0					19																	56539267		2124	4239	6363	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539267C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1668C>A	19.37:g.56539267C>A						NLRP5_uc002qmi.2_Silent_p.L537L	p.L556L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1668	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	556			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1668C>A	CCDS12938.1																																																																																				0.532	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		9	26	1	0	0.000274275	0.004482	0.000289021	9	26				
VN1R1	57191	broad.mit.edu	37	19	57967672	57967672	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:57967672C>A	ENST00000321039.3	-	1	182	c.183G>T	c.(181-183)ctG>ctT	p.L61L	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	61					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AGGAATTTCCCAGGATCCCAA	0.408																																							uc002qos.1		NA																	0				ovary(1)	1						c.(181-183)CTG>CTT		vomeronasal 1 receptor 1							50.0	50.0	50.0					19																	57967672		2203	4300	6503	SO:0001819	synonymous_variant	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967672C>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.183G>T	19.37:g.57967672C>A						ZNF547_uc002qpm.3_Intron	p.L61L	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	183	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	61			Helical; Name=1; (Potential).		B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	ENST00000321039.3	37	c.183G>T	CCDS12951.1																																																																																				0.408	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		25	43	1	0	4.59853e-10	0.005443	6.1175e-10	25	43				
ZNF551	90233	broad.mit.edu	37	19	58199618	58199618	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:58199618A>G	ENST00000282296.5	+	3	2160	c.1975A>G	c.(1975-1977)Att>Gtt	p.I659V	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.I643V|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCTAACCTCATTCGACATCG	0.428																																							uc002qpw.3		NA																	0				ovary(1)	1						c.(1927-1929)ATT>GTT		zinc finger protein 551							89.0	88.0	88.0					19																	58199618		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199618A>G	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1975A>G	19.37:g.58199618A>G	ENSP00000282296:p.Ile659Val					ZNF551_uc002qpv.3_Missense_Mutation_p.I586V|ZNF776_uc002qpx.2_Intron	p.I643V	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	2150	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	659			C2H2-type 14.		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1927A>G	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.201136	0.00296	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.42	-4.84	0.03151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12347	0.0300	N	0.11106	0.095	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.28396	-1.0045	8	0.12430	T	0.62	.	0.4514	0.00501	0.4126:0.1663:0.1679:0.2532	.	659	Q7Z340	ZN551_HUMAN	V	659;643	.	ENSP00000282296:I643V	I	+	1	0	ZNF551	62891430	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.517000	0.00444	-1.372000	0.02137	-0.695000	0.03696	ATT		0.428	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		35	72	0	0	0	0.004289	0	35	72				
COLEC11	78989	broad.mit.edu	37	2	3652050	3652050	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:3652050T>A	ENST00000349077.4	+	2	223	c.120T>A	c.(118-120)ccT>ccA	p.P40P	COLEC11_ENST00000418971.2_Silent_p.P54P|COLEC11_ENST00000236693.7_Missense_Mutation_p.L11Q|COLEC11_ENST00000487365.1_3'UTR|AC010907.2_ENST00000456450.1_RNA|COLEC11_ENST00000403096.3_5'Flank|COLEC11_ENST00000402794.1_5'Flank|COLEC11_ENST00000402922.1_5'Flank|COLEC11_ENST00000382062.2_Silent_p.P40P|COLEC11_ENST00000404205.1_5'Flank	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	40					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TCCTCGTCCCTGGCCTCAAAG	0.627																																							uc002qya.2		NA																	0					0						c.(118-120)CCT>CCA		collectin sub-family member 11 isoform a							114.0	103.0	107.0					2																	3652050		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3652050T>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.120T>A	2.37:g.3652050T>A						COLEC11_uc002qxz.2_Missense_Mutation_p.L11Q|COLEC11_uc002qyb.2_Silent_p.P40P|COLEC11_uc002qyc.2_Silent_p.P40P|COLEC11_uc010ewo.2_Silent_p.P40P|COLEC11_uc010ewp.2_5'Flank|COLEC11_uc010ewq.2_5'Flank|COLEC11_uc010ewr.2_5'Flank|COLEC11_uc010ews.2_5'Flank	p.P40P	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	2	268	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		40					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.120T>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	T	8.014	0.758185	0.15846	.	.	ENSG00000118004	ENST00000236693	T	0.06608	3.28	4.83	-9.66	0.00534	.	.	.	.	.	T	0.03739	0.0106	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.51084	-0.8750	8	0.66056	D	0.02	-12.655	1.2912	0.02060	0.1274:0.3103:0.2161:0.3462	.	11	Q9BWP8-9	.	Q	11	ENSP00000236693:L11Q	ENSP00000236693:L11Q	L	+	2	0	COLEC11	3629925	0.025000	0.19082	0.230000	0.23976	0.907000	0.53573	-1.201000	0.03026	-4.074000	0.00076	-1.831000	0.00592	CTG		0.627	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		19	74	0	0	0	0.007413	0	19	74				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53897674	53897674	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:53897674T>C	ENST00000263634.3	-	10	1657	c.1523A>G	c.(1522-1524)gAa>gGa	p.E508G	GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.E435G|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.E435G|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E546G|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.E543G	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		TTCTGGAACTTCATACATCCT	0.383																																							uc002rxg.1		NA																	0				ovary(1)|kidney(1)	2						c.(1522-1524)GAA>GGA		ankyrin repeat and SOCS box-containing protein 3							76.0	73.0	74.0					2																	53897674		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53897674T>C		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1523A>G	2.37:g.53897674T>C	ENSP00000263634:p.Glu508Gly					ASB3_uc002rxh.1_Missense_Mutation_p.E435G|ASB3_uc002rxi.3_Missense_Mutation_p.E546G|ASB3_uc002rxf.1_RNA	p.E508G	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		10	1658	-			508						Missense_Mutation	SNP	ENST00000263634.3	37	c.1523A>G	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	T	5.864	0.343502	0.11069	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.70045	-0.4;-0.35;-0.45;-0.45;-0.38	5.69	3.21	0.36854	.	1.303370	0.04843	N	0.440808	T	0.47948	0.1473	N	0.11560	0.145	0.26757	N	0.970088	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39563	-0.9608	9	0.33940	T	0.23	-1.3766	6.1228	0.20161	0.0:0.0845:0.1621:0.7534	.	543;508	Q2TAI4;Q9Y575	.;ASB3_HUMAN	G	508;543;435;435;546;427	ENSP00000263634:E508G;ENSP00000385085:E543G;ENSP00000384728:E435G;ENSP00000378206:E435G;ENSP00000313756:E546G	ENSP00000263634:E508G	E	-	2	0	ASB3	53751178	0.971000	0.33674	0.412000	0.26496	0.042000	0.13812	2.089000	0.41672	0.376000	0.24707	0.460000	0.39030	GAA		0.383	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			3	33	0	0	0	0.004672	0	3	33				
DYSF	8291	broad.mit.edu	37	2	71791305	71791305	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:71791305G>A	ENST00000258104.3	+	24	2750	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	DYSF_ENST00000409744.1_Missense_Mutation_p.G812S|DYSF_ENST00000394120.2_Missense_Mutation_p.G826S|DYSF_ENST00000409651.1_Missense_Mutation_p.G857S|DYSF_ENST00000410041.1_Missense_Mutation_p.G843S|DYSF_ENST00000409582.3_Missense_Mutation_p.G842S|DYSF_ENST00000413539.2_Missense_Mutation_p.G856S|DYSF_ENST00000410020.3_Missense_Mutation_p.G843S|DYSF_ENST00000409366.1_Missense_Mutation_p.G826S|DYSF_ENST00000429174.2_Missense_Mutation_p.G825S|DYSF_ENST00000409762.1_Missense_Mutation_p.G842S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	825					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAACTACTGTGGCAAGAATTG	0.512																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(2473-2475)GGC>AGC		dysferlin isoform 8							94.0	105.0	101.0					2																	71791305		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71791305G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2473G>A	2.37:g.71791305G>A	ENSP00000258104:p.Gly825Ser					DYSF_uc010feg.2_Missense_Mutation_p.G856S|DYSF_uc010feh.2_Missense_Mutation_p.G811S|DYSF_uc002sig.3_Missense_Mutation_p.G811S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G825S|DYSF_uc010fef.2_Missense_Mutation_p.G842S|DYSF_uc010fei.2_Missense_Mutation_p.G842S|DYSF_uc010fek.2_Missense_Mutation_p.G843S|DYSF_uc010fej.2_Missense_Mutation_p.G812S|DYSF_uc010fel.2_Missense_Mutation_p.G812S|DYSF_uc010feo.2_Missense_Mutation_p.G857S|DYSF_uc010fem.2_Missense_Mutation_p.G826S|DYSF_uc010fen.2_Missense_Mutation_p.G843S|DYSF_uc002sif.2_Missense_Mutation_p.G826S	p.G825S	NM_003494	NP_003485	O75923	DYSF_HUMAN			24	2849	+			825			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2473G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689480	0.88735	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.29	5.29	0.74685	Ferlin B-domain (1);	0.000000	0.85682	D	0.000000	D	0.92848	0.7725	M	0.91249	3.19	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94087	0.7349	10	0.66056	D	0.02	-29.4345	16.4352	0.83873	0.0:0.0:1.0:0.0	.	857;843;826;812;843;812;842;811;856;842;825;811;826;825	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	S	856;842;842;825;825;857;826;812;826;843;843	ENSP00000407046:G856S;ENSP00000387137:G842S;ENSP00000386547:G842S;ENSP00000398305:G825S;ENSP00000258104:G825S;ENSP00000386683:G857S;ENSP00000377678:G826S;ENSP00000386285:G812S;ENSP00000386512:G826S;ENSP00000386881:G843S;ENSP00000386617:G843S	ENSP00000258104:G825S	G	+	1	0	DYSF	71644813	1.000000	0.71417	0.985000	0.45067	0.510000	0.34073	9.790000	0.99075	2.477000	0.83638	0.462000	0.41574	GGC		0.512	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		32	77	0	0	0	0.010818	0	32	77				
REV1	51455	broad.mit.edu	37	2	100021119	100021119	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:100021119C>G	ENST00000258428.3	-	18	3061	c.2833G>C	c.(2833-2835)Gca>Cca	p.A945P	REV1_ENST00000393445.3_Missense_Mutation_p.A944P|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	945					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGAAGTGCTTCTAAAACA	0.438								Direct reversal of damage																															uc002tad.2		NA																	0				ovary(2)	2						c.(2833-2835)GCA>CCA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							94.0	88.0	90.0					2																	100021119		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100021119C>G	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2833G>C	2.37:g.100021119C>G	ENSP00000258428:p.Ala945Pro					REV1_uc002tac.2_Missense_Mutation_p.A944P	p.A945P	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			18	3045	-			945					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2833G>C	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339616	0.95783	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.37752	1.18;1.18	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.63567	-0.6608	10	0.51188	T	0.08	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	945;944	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	P	944;945	ENSP00000377091:A944P;ENSP00000258428:A945P	ENSP00000258428:A945P	A	-	1	0	REV1	99387551	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.754000	0.74909	2.806000	0.96561	0.655000	0.94253	GCA		0.438	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		22	49	0	0	0	0.00333	0	22	49				
REV1	51455	broad.mit.edu	37	2	100021122	100021122	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:100021122C>T	ENST00000258428.3	-	18	3058	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	REV1_ENST00000393445.3_Missense_Mutation_p.E943K|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	944					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAAGTGCTTCTAAAACAGAC	0.438								Direct reversal of damage																															uc002tad.2		NA																	0				ovary(2)	2						c.(2830-2832)GAA>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							88.0	82.0	84.0					2																	100021122		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100021122C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2830G>A	2.37:g.100021122C>T	ENSP00000258428:p.Glu944Lys					REV1_uc002tac.2_Missense_Mutation_p.E943K	p.E944K	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			18	3042	-			944					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2830G>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385236	0.82792	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.30981	1.51;1.51	5.6	5.6	0.85130	.	0.045626	0.85682	D	0.000000	T	0.52613	0.1745	M	0.64997	1.995	0.58432	D	0.999995	D;P	0.69078	0.997;0.886	D;P	0.75020	0.985;0.787	T	0.29701	-1.0003	10	0.16420	T	0.52	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	944;943	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	K	943;944	ENSP00000377091:E943K;ENSP00000258428:E944K	ENSP00000258428:E944K	E	-	1	0	REV1	99387554	1.000000	0.71417	0.984000	0.44739	0.975000	0.68041	5.040000	0.64191	2.806000	0.96561	0.655000	0.94253	GAA		0.438	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		22	50	0	0	0	0.00278	0	22	50				
RGPD4	285190	broad.mit.edu	37	2	108475962	108475962	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:108475962A>C	ENST00000408999.3	+	11	1663	c.1586A>C	c.(1585-1587)cAa>cCa	p.Q529P	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q529P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	529					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACAGAAAGACAAAAATCTTGG	0.398																																							uc010ywk.1		NA																	0				skin(2)	2						c.(1585-1587)CAA>CCA		RANBP2-like and GRIP domain containing 4							79.0	69.0	72.0					2																	108475962		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108475962A>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1586A>C	2.37:g.108475962A>C	ENSP00000386810:p.Gln529Pro					RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA	p.Q529P	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			11	1668	+			529					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1586A>C	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	5.313	0.243177	0.10077	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.54866	0.55;0.55	2.6	2.6	0.31112	.	.	.	.	.	T	0.67021	0.2849	M	0.69823	2.125	0.35657	D	0.812216	D	0.65815	0.995	D	0.70487	0.969	T	0.74740	-0.3563	9	0.87932	D	0	-15.0929	9.4453	0.38693	1.0:0.0:0.0:0.0	.	529	Q7Z3J3	RGPD4_HUMAN	P	529;529;287	ENSP00000347081:Q529P;ENSP00000386810:Q529P	ENSP00000347081:Q529P	Q	+	2	0	RGPD4	107842394	1.000000	0.71417	0.143000	0.22291	0.142000	0.21351	8.038000	0.88943	1.068000	0.40764	0.128000	0.15822	CAA		0.398	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		79	264	0	0	0	0.00361	0	79	264				
RANBP2	5903	broad.mit.edu	37	2	109384607	109384607	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:109384607A>T	ENST00000283195.6	+	20	7738	c.7612A>T	c.(7612-7614)Agt>Tgt	p.S2538C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2538					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCGGCAACAGTTCAGCCAC	0.373																																							uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(7612-7614)AGT>TGT		RAN binding protein 2							206.0	228.0	220.0					2																	109384607		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384607A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7612A>T	2.37:g.109384607A>T	ENSP00000283195:p.Ser2538Cys						p.S2538C	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	7738	+			2538					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7612A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348957	0.61183	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.28895	1.59	5.61	5.61	0.85477	.	.	.	.	.	T	0.43875	0.1267	L	0.51422	1.61	0.22378	N	0.999159	D	0.63880	0.993	P	0.53185	0.72	T	0.37641	-0.9697	9	0.87932	D	0	-20.1083	16.0973	0.81135	1.0:0.0:0.0:0.0	.	2538	P49792	RBP2_HUMAN	C	1562;2538	ENSP00000283195:S2538C	ENSP00000283195:S2538C	S	+	1	0	RANBP2	108751039	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.397000	0.66302	2.263000	0.75096	0.377000	0.23210	AGT		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		84	246	0	0	0	0.00361	0	84	246				
ANAPC1	64682	broad.mit.edu	37	2	112540062	112540063	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:112540062_112540063CC>AA	ENST00000341068.3	-	43	5857_5858	c.5085_5086GG>TT	c.(5083-5088)ggGGtt>ggTTtt	p.V1696F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1696					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACATATAAAACCCCATCCTTGG	0.421																																							uc002thi.2		NA																	0				skin(2)	2						c.(5083-5088)GGGGTT>GGTTTT		anaphase promoting complex subunit 1																																				SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112540062_112540063CC>AA	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5085_5086delinsAA	2.37:g.112540062_112540063delinsAA	ENSP00000339109:p.Val1696Phe						p.V1696F	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			43	5332_5333	-			1696					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	DNP	ENST00000341068.3	37	c.5085_5086GG>TT	CCDS2093.1																																																																																				0.421	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	37	0	0	0	0.004672	0	6	37				
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																							uc010yxx.1		NA																	0					0						c.(382-384)TAG>CAG		SubName: Full=DEAD/H box polypeptide 11 like 2;																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							3	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		5	37	0	0	0	0.000602	0	5	37				
LOC401010	401010	broad.mit.edu	37	2	132201350	132201350	+	IGR	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:132201350G>T								AC073869.19 (34728 upstream) : RP11-109E12.1 (18043 downstream)																							GCCACACCCGGCTCCAAGGCC	0.577																																							uc002tst.2		NA																	0					0						c.(652-654)CCG>ACG		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132201350G>T																													2.37:g.132201350G>T							p.P218T	NR_002826						1	1118	-									Missense_Mutation	SNP		37	c.652C>A																																																																																				0	0.577									11	23	1	0	1.08611e-07	0.010729	1.29803e-07	11	23				
LRP1B	53353	broad.mit.edu	37	2	141135766	141135766	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:141135766C>T	ENST00000389484.3	-	68	11592	c.10621G>A	c.(10621-10623)Gca>Aca	p.A3541T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3541	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCCATCTGCACAGTCAAAA	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10621-10623)GCA>ACA		low density lipoprotein-related protein 1B							110.0	99.0	103.0					2																	141135766		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141135766C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10621G>A	2.37:g.141135766C>T	ENSP00000374135:p.Ala3541Thr	TSP Lung(27;0.18)					p.A3541T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	68	11593	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3541			Extracellular (Potential).|LDL-receptor class A 26.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10621G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741460	0.49151	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95788	-3.81	5.48	5.48	0.80851	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.174333	0.37437	N	0.002086	D	0.93161	0.7822	L	0.33792	1.035	0.36549	D	0.87173	P	0.47484	0.896	P	0.48952	0.596	D	0.92735	0.6203	10	0.23302	T	0.38	.	12.6699	0.56862	0.0:0.9244:0.0:0.0756	.	3541	Q9NZR2	LRP1B_HUMAN	T	3541;3479	ENSP00000374135:A3541T	ENSP00000374135:A3541T	A	-	1	0	LRP1B	140852236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.495000	0.45337	2.571000	0.86741	0.591000	0.81541	GCA		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		21	43	0	0	0	0.010504	0	21	43				
LRP1B	53353	broad.mit.edu	37	2	141739834	141739834	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:141739834G>T	ENST00000389484.3	-	18	3753	c.2782C>A	c.(2782-2784)Cag>Aag	p.Q928K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	928	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTCTACCTGGCATGTTCTG	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2782-2784)CAG>AAG		low density lipoprotein-related protein 1B							98.0	89.0	92.0					2																	141739834		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141739834G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2782C>A	2.37:g.141739834G>T	ENSP00000374135:p.Gln928Lys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.Q110K	p.Q928K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	18	3754	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	928			Extracellular (Potential).|LDL-receptor class A 5.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2782C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377711	0.24944	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95001	-3.58;-3.58	5.43	4.54	0.55810	.	0.082255	0.50627	U	0.000104	D	0.88760	0.6524	N	0.20328	0.56	0.41260	D	0.986772	B;B	0.23735	0.04;0.09	B;B	0.29663	0.105;0.055	D	0.83402	0.0023	10	0.06494	T	0.89	.	16.185	0.81946	0.0:0.1335:0.8665:0.0	.	111;928	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	928;866;73	ENSP00000374135:Q928K;ENSP00000413239:Q73K	ENSP00000374135:Q928K	Q	-	1	0	LRP1B	141456304	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	5.920000	0.70017	1.269000	0.44280	0.655000	0.94253	CAG		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	41	1	0	6.40141e-05	0.010729	6.97043e-05	11	41				
TNFAIP6	7130	broad.mit.edu	37	2	152220570	152220570	+	Missense_Mutation	SNP	C	C	A	rs373889474		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:152220570C>A	ENST00000243347.3	+	2	283	c.208C>A	c.(208-210)Cag>Aag	p.Q70K		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	70	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AACTTACAAGCAGCTAGAGGC	0.433																																							uc002txk.2		NA																	0					0						c.(208-210)CAG>AAG		tumor necrosis factor, alpha-induced protein 6		C	LYS/GLN	0,4406		0,0,2203	59.0	58.0	58.0		208	5.8	1.0	2		58	1,8599		0,1,4299	no	missense	TNFAIP6	NM_007115.3	53	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	70/278	152220570	1,13005	2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152220570C>A		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.208C>A	2.37:g.152220570C>A	ENSP00000243347:p.Gln70Lys						p.Q70K	NM_007115	NP_009046	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	284	+			70			Link.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.208C>A	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084794	0.94100	0.0	1.16E-4	ENSG00000123610	ENST00000243347	T	0.10005	2.92	5.85	5.85	0.93711	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	H	0.96889	3.9	0.80722	D	1	D	0.59357	0.985	D	0.73708	0.981	T	0.59215	-0.7496	10	0.23302	T	0.38	.	20.1589	0.98128	0.0:1.0:0.0:0.0	.	70	P98066	TSG6_HUMAN	K	70	ENSP00000243347:Q70K	ENSP00000243347:Q70K	Q	+	1	0	TNFAIP6	151928816	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.175000	0.77632	2.769000	0.95229	0.650000	0.86243	CAG		0.433	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		9	27	1	0	0.00448238	0.004482	0.00457576	9	27				
NEB	4703	broad.mit.edu	37	2	152507201	152507201	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:152507201A>T	ENST00000172853.10	-	53	7261	c.7114T>A	c.(7114-7116)Tgt>Agt	p.C2372S	NEB_ENST00000409198.1_Missense_Mutation_p.C2372S|NEB_ENST00000604864.1_Missense_Mutation_p.C2372S|NEB_ENST00000603639.1_Missense_Mutation_p.C2372S|NEB_ENST00000427231.2_Missense_Mutation_p.C2372S|NEB_ENST00000397345.3_Missense_Mutation_p.C2372S			P20929	NEBU_HUMAN	nebulin	2372					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACTCCTGACACTTCTTGGCC	0.448																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(7114-7116)TGT>AGT		nebulin isoform 3							283.0	283.0	283.0					2																	152507201		2029	4189	6218	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152507201A>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7114T>A	2.37:g.152507201A>T	ENSP00000172853:p.Cys2372Ser						p.C2372S	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	53	7305	-			2372			Nebulin 63.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7114T>A		.	.	.	.	.	.	.	.	.	.	A	16.39	3.108938	0.56398	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.36	5.36	0.76844	.	0.110448	0.64402	D	0.000008	T	0.36826	0.0981	L	0.35644	1.08	0.80722	D	1	P	0.51449	0.945	P	0.52309	0.695	T	0.06215	-1.0839	10	0.39692	T	0.17	.	15.3499	0.74376	1.0:0.0:0.0:0.0	.	2372	P20929	NEBU_HUMAN	S	2372	ENSP00000386259:C2372S;ENSP00000380505:C2372S;ENSP00000416578:C2372S;ENSP00000172853:C2372S	ENSP00000172853:C2372S	C	-	1	0	NEB	152215447	0.066000	0.20996	0.715000	0.30552	0.856000	0.48823	2.453000	0.44970	2.032000	0.59987	0.528000	0.53228	TGT		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		78	211	0	0	0	0.00361	0	78	211				
BAZ2B	29994	broad.mit.edu	37	2	160189152	160189152	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:160189152G>A	ENST00000392783.2	-	34	6337	c.5842C>T	c.(5842-5844)Ctt>Ttt	p.L1948F	BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1848F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1914F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1912F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1948					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATCACAAAGAAGAAGCAGT	0.383																																							uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(5842-5844)CTT>TTT		bromodomain adjacent to zinc finger domain, 2B							116.0	107.0	110.0					2																	160189152		1881	4101	5982	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160189152G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5842C>T	2.37:g.160189152G>A	ENSP00000376534:p.Leu1948Phe					BAZ2B_uc002uap.2_Missense_Mutation_p.L1912F	p.L1948F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			34	6194	-			1948			PHD-type.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5842C>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787800	0.31593	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.36	5.36	0.76844	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.33553	U	0.004793	D	0.90926	0.7148	M	0.71036	2.16	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.91671	0.5350	10	0.87932	D	0	-8.543	19.0705	0.93134	0.0:0.0:1.0:0.0	.	1912;1948	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	F	1912;1948;1914;1848	ENSP00000376533:L1912F;ENSP00000376534:L1948F;ENSP00000348087:L1914F;ENSP00000339670:L1848F	ENSP00000339670:L1848F	L	-	1	0	BAZ2B	159897398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.331000	0.72929	2.524000	0.85096	0.650000	0.86243	CTT		0.383	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			16	55	0	0	0	0.006122	0	16	55				
GCG	2641	broad.mit.edu	37	2	163002070	163002070	+	Silent	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:163002070C>G	ENST00000418842.2	-	4	626	c.372G>C	c.(370-372)gtG>gtC	p.V124V	GCG_ENST00000375497.3_Silent_p.V124V	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	124					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CTCGGCCTTTCACCAGCCAAG	0.408																																							uc002ucc.2		NA																	0					0						c.(370-372)GTG>GTC		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)						140.0	137.0	138.0					2																	163002070		1868	4101	5969	SO:0001819	synonymous_variant	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163002070C>G		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.372G>C	2.37:g.163002070C>G							p.V124V	NM_002054	NP_002045	P01275	GLUC_HUMAN			4	471	-			124					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.372G>C	CCDS46439.1																																																																																				0.408	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		5	154	0	0	0	0.000602	0	5	154				
SSFA2	6744	broad.mit.edu	37	2	182780424	182780424	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:182780424C>T	ENST00000431877.2	+	11	2236	c.2057C>T	c.(2056-2058)tCt>tTt	p.S686F	SSFA2_ENST00000428267.2_Missense_Mutation_p.S533F|SSFA2_ENST00000320370.7_Missense_Mutation_p.S686F|SSFA2_ENST00000409136.1_Missense_Mutation_p.S195F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S686F	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	686						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGCCTCCCTCTTCCATGGAC	0.403																																							uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2056-2058)TCT>TTT		sperm specific antigen 2 isoform 1							56.0	55.0	55.0					2																	182780424		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780424C>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2057C>T	2.37:g.182780424C>T	ENSP00000388731:p.Ser686Phe					SSFA2_uc002uoh.2_Missense_Mutation_p.S686F|SSFA2_uc002uoj.2_Missense_Mutation_p.S686F|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.S533F|SSFA2_uc002uol.2_Missense_Mutation_p.S533F|SSFA2_uc002uom.2_Missense_Mutation_p.S154F	p.S686F	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2379	+			686					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2057C>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487455	0.63962	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.19532	2.46;2.23;2.46;2.47;2.14	5.44	5.44	0.79542	.	0.482456	0.23086	N	0.052083	T	0.47248	0.1435	M	0.73598	2.24	0.40605	D	0.981618	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.998;0.998	T	0.45542	-0.9254	10	0.56958	D	0.05	-13.5027	14.8242	0.70097	0.0:0.8563:0.1437:0.0	.	533;195;686;686;686	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	F	686;686;686;533;195	ENSP00000388731:S686F;ENSP00000314669:S686F;ENSP00000387319:S686F;ENSP00000409867:S533F;ENSP00000386916:S195F	ENSP00000314669:S686F	S	+	2	0	SSFA2	182488669	0.997000	0.39634	0.998000	0.56505	0.951000	0.60555	4.411000	0.59781	2.563000	0.86464	0.585000	0.79938	TCT		0.403	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		18	38	0	0	0	0.00499	0	18	38				
NCKAP1	10787	broad.mit.edu	37	2	183821252	183821252	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:183821252T>C	ENST00000361354.4	-	20	2463	c.2091A>G	c.(2089-2091)gtA>gtG	p.V697V	NCKAP1_ENST00000360982.2_Silent_p.V703V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	697					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATGTTCCCATACCACCATGT	0.328																																							uc002upc.2		NA																	0				ovary(2)	2						c.(2089-2091)GTA>GTG		NCK-associated protein 1 isoform 1							100.0	100.0	100.0					2																	183821252		2203	4300	6503	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183821252T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2091A>G	2.37:g.183821252T>C						NCKAP1_uc002upb.2_Silent_p.V703V	p.V697V	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		20	2493	-			697					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.2091A>G	CCDS2287.1																																																																																				0.328	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		26	70	0	0	0	0.005443	0	26	70				
AOX1	316	broad.mit.edu	37	2	201523986	201523986	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:201523986G>T	ENST00000374700.2	+	28	3511	c.3270G>T	c.(3268-3270)gtG>gtT	p.V1090V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1090					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAGGTTCTGTGGTGGCAGATC	0.502																																							uc002uvx.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(3268-3270)GTG>GTT		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						163.0	148.0	153.0					2																	201523986		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201523986G>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3270G>T	2.37:g.201523986G>T						AOX1_uc010zhf.1_Silent_p.V646V|AOX1_uc010fsu.2_Silent_p.V456V	p.V1090V	NM_001159	NP_001150	Q06278	ADO_HUMAN			28	3371	+			1090					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.3270G>T	CCDS33360.1																																																																																				0.502	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		25	101	1	0	9.04412e-07	0.004656	1.04684e-06	25	101				
IGFBP5	3488	broad.mit.edu	37	2	217541586	217541586	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:217541586C>T	ENST00000233813.4	-	4	1456	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	236	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACGTTTGCGGCCACGGGA	0.627																																							uc002vgj.3		NA																	0					0						c.(706-708)CGC>CAC		insulin-like growth factor binding protein 5							172.0	148.0	157.0					2																	217541586		2203	4300	6503	SO:0001583	missense	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217541586C>T		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.707G>A	2.37:g.217541586C>T	ENSP00000233813:p.Arg236His						p.R236H	NM_000599	NP_000590	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1481	-		Renal(323;0.0822)	236			Thyroglobulin type-1.		Q5U0A3	Missense_Mutation	SNP	ENST00000233813.4	37	c.707G>A	CCDS2405.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041739	0.75732	.	.	ENSG00000115461	ENST00000233813	T	0.64803	-0.12	4.78	4.78	0.61160	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72600	-0.4244	10	0.39692	T	0.17	.	16.5399	0.84382	0.0:1.0:0.0:0.0	.	236	P24593	IBP5_HUMAN	H	236	ENSP00000233813:R236H	ENSP00000233813:R236H	R	-	2	0	IGFBP5	217249831	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.118000	0.77137	2.488000	0.83962	0.563000	0.77884	CGC		0.627	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		27	104	0	0	0	0.003271	0	27	104				
INPP5D	3635	broad.mit.edu	37	2	234091102	234091102	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:234091102C>A	ENST00000359570.5	+	21	2082	c.2082C>A	c.(2080-2082)gcC>gcA	p.A694A	INPP5D_ENST00000455936.2_Silent_p.A458A|INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000450745.1_Silent_p.A458A			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	706					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTGTCTTTGCCACATTTGAGG	0.517																																					NSCLC(82;1215 1426 16163 20348 41018)	NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2116-2118)GCC>GCA		SH2 containing inositol phosphatase isoform a							178.0	173.0	174.0					2																	234091102		2057	4213	6270	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234091102C>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2082C>A	2.37:g.234091102C>A						INPP5D_uc010zmp.1_Silent_p.A705A	p.A706A	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	18	2271	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	706					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.2118C>A																																																																																					0.517	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		20	66	1	0	1.28384e-07	0.012319	1.52197e-07	20	66				
UGT1A5	54579	broad.mit.edu	37	2	234622463	234622463	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:234622463A>T	ENST00000373414.3	+	1	826	c.826A>T	c.(826-828)Att>Ttt	p.I276F	UGT1A1_ENST00000608381.1_Missense_Mutation_p.I276F|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	276						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CATGGTCTTCATTGGGGGCAT	0.488																																							uc002vuw.2		NA																	0				skin(1)	1						c.(826-828)ATT>TTT		UDP glycosyltransferase 1 family, polypeptide A5							70.0	84.0	80.0					2																	234622463		2203	4297	6500	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234622463A>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.826A>T	2.37:g.234622463A>T	ENSP00000362513:p.Ile276Phe					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.I276F	p.I276F	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	826	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	276					B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.826A>T	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947942	0.73787	.	.	ENSG00000240224	ENST00000373414	T	0.68479	-0.33	4.73	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	H	0.96239	3.79	0.49130	D	0.999751	D;D	0.60575	0.988;0.988	D;D	0.67548	0.952;0.952	D	0.86553	0.1836	10	0.87932	D	0	.	10.0271	0.42079	0.9199:0.0:0.0801:0.0	.	276;276	Q5DSZ9;P35504	.;UD15_HUMAN	F	276	ENSP00000362513:I276F	ENSP00000362513:I276F	I	+	1	0	UGT1A5	234287202	0.655000	0.27376	0.998000	0.56505	0.785000	0.44390	1.976000	0.40579	0.681000	0.31386	0.459000	0.35465	ATT		0.488	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		52	110	0	0	0	0.00361	0	52	110				
MLPH	79083	broad.mit.edu	37	2	238419223	238419223	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:238419223G>T	ENST00000264605.3	+	3	411	c.117G>T	c.(115-117)ttG>ttT	p.L39F	MLPH_ENST00000409373.1_Missense_Mutation_p.L39F|MLPH_ENST00000338530.4_Missense_Mutation_p.L39F|MLPH_ENST00000445024.2_Missense_Mutation_p.L39F|MLPH_ENST00000410032.1_Missense_Mutation_p.L39F|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	39	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CAAGGGCGTTGAAGGGCAAGA	0.493																																							uc002vwt.2		NA																	0				ovary(1)	1						c.(115-117)TTG>TTT		melanophilin isoform 1							29.0	32.0	31.0					2																	238419223		2203	4297	6500	SO:0001583	missense	79083						metal ion binding	g.chr2:238419223G>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.117G>T	2.37:g.238419223G>T	ENSP00000264605:p.Leu39Phe					MLPH_uc002vws.2_Missense_Mutation_p.L39F|MLPH_uc010fyt.1_Missense_Mutation_p.L39F|MLPH_uc002vwu.2_Missense_Mutation_p.L39F|MLPH_uc002vwv.2_Missense_Mutation_p.L39F|MLPH_uc002vww.2_Missense_Mutation_p.L15F	p.L39F	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	3	344	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	39			RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.117G>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481272	0.63849	.	.	ENSG00000115648	ENST00000422695;ENST00000429898;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.98	0.747	0.18371	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000008	D	0.89248	0.6661	M	0.88842	2.985	0.45946	D	0.998774	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;1.0;0.999	D	0.86737	0.1952	10	0.72032	D	0.01	-11.7761	4.0749	0.09899	0.1564:0.128:0.5843:0.1313	.	39;39;39;39;39;39	B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;MELPH_HUMAN;.	F	39	ENSP00000409170:L39F;ENSP00000403909:L39F;ENSP00000386338:L39F;ENSP00000264605:L39F;ENSP00000414849:L39F;ENSP00000341845:L39F;ENSP00000386780:L39F	ENSP00000264605:L39F	L	+	3	2	MLPH	238083962	1.000000	0.71417	0.967000	0.41034	0.956000	0.61745	1.702000	0.37836	1.086000	0.41228	0.563000	0.77884	TTG		0.493	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		3	40	1	0	0.004672	0.004672	0.00475283	3	40				
KLHL30	377007	broad.mit.edu	37	2	239049536	239049536	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:239049536C>G	ENST00000409223.1	+	2	248	c.141C>G	c.(139-141)caC>caG	p.H47Q	KLHL30_ENST00000305959.4_Missense_Mutation_p.H29Q			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	47	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGCCATGCCACCGCGGCCTCC	0.692																																							uc002vxr.1		NA																	0					0						c.(85-87)CAC>CAG		kelch-like 30							36.0	43.0	40.0					2																	239049536		2132	4222	6354	SO:0001583	missense	377007							g.chr2:239049536C>G		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.141C>G	2.37:g.239049536C>G	ENSP00000386389:p.His47Gln						p.H29Q	NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	1	120	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	47			BTB.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.87C>G	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766484	0.69878	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.79749	-1.3;-1.3	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	H	0.95950	3.745	0.44424	D	0.997347	D	0.89917	1.0	D	0.97110	1.0	D	0.92918	0.6353	10	0.87932	D	0	.	8.9153	0.35579	0.0:0.8416:0.0:0.1584	.	47	Q0D2K2	KLH30_HUMAN	Q	47;29	ENSP00000386389:H47Q;ENSP00000302386:H29Q	ENSP00000302386:H29Q	H	+	3	2	KLHL30	238714275	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.143000	0.42187	2.720000	0.93068	0.655000	0.94253	CAC		0.692	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		26	51	0	0	0	0.00333	0	26	51				
RIN2	54453	broad.mit.edu	37	20	19970827	19970827	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:19970827A>T	ENST00000255006.6	+	9	2236	c.2087A>T	c.(2086-2088)gAt>gTt	p.D696V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.D214V	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	647	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCGACCCCTGATTTTGTGGAT	0.537																																							uc002wro.1		NA																	0				lung(4)|ovary(1)	5						c.(1939-1941)GAT>GTT		Ras and Rab interactor 2							31.0	33.0	32.0					20																	19970827		1919	4119	6038	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19970827A>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2087A>T	20.37:g.19970827A>T	ENSP00000255006:p.Asp696Val					RIN2_uc010gcu.1_Missense_Mutation_p.D214V|RIN2_uc010gcv.1_Missense_Mutation_p.D441V	p.D647V	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			8	1976	+			647			VPS9.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1940A>T	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.674847	0.88445	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.28666	1.6;1.6	5.83	5.83	0.93111	Vacuolar sorting protein 9 (1);	0.093829	0.64402	D	0.000001	T	0.52338	0.1728	M	0.65975	2.015	0.80722	D	1	D;D	0.62365	0.991;0.985	D;P	0.64877	0.93;0.836	T	0.49890	-0.8891	9	.	.	.	-26.8082	15.8552	0.78972	1.0:0.0:0.0:0.0	.	214;647	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	V	696;214	ENSP00000255006:D696V;ENSP00000391239:D214V	.	D	+	2	0	RIN2	19918827	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	9.339000	0.96797	2.225000	0.72522	0.482000	0.46254	GAT		0.537	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			5	8	0	0	0	0.000602	0	5	8				
CRNKL1	51340	broad.mit.edu	37	20	20024248	20024248	+	Missense_Mutation	SNP	G	G	A	rs532937612		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:20024248G>A	ENST00000377340.2	-	8	1374	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	CRNKL1_ENST00000536226.1_Missense_Mutation_p.A287V|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A436V	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	448	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GAGTTCTTGGGCATCTTGTTT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		19674	0.0		0.001	False		,,,				2504	0.0						uc002wrs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1342-1344)GCC>GTC		crooked neck-like 1 protein							102.0	104.0	103.0					20																	20024248		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20024248G>A	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1343C>T	20.37:g.20024248G>A	ENSP00000366557:p.Ala448Val						p.A448V	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			8	1375	-			448			HAT 7.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1343C>T	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703070	0.88924	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.35048	1.33;1.33;1.33	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	M	0.72353	2.195	0.80722	D	1	P	0.37985	0.613	B	0.33690	0.168	T	0.44236	-0.9341	10	0.66056	D	0.02	-13.2865	20.6439	0.99570	0.0:0.0:1.0:0.0	.	448	Q9BZJ0	CRNL1_HUMAN	V	436;448;287	ENSP00000366544:A436V;ENSP00000366557:A448V;ENSP00000440733:A287V	ENSP00000366544:A436V	A	-	2	0	CRNKL1	19972248	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.884000	0.98904	0.655000	0.94253	GCC		0.373	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			33	73	0	0	0	0.010818	0	33	73				
TGM2	7052	broad.mit.edu	37	20	36768012	36768012	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:36768012C>A	ENST00000361475.2	-	9	1317	c.1144G>T	c.(1144-1146)Ggc>Tgc	p.G382C	TGM2_ENST00000536701.1_Missense_Mutation_p.G301C|TGM2_ENST00000536724.1_Missense_Mutation_p.G322C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	382					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CTCAGGTCGCCCTCCTTGATG	0.587																																							uc002xhr.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1144-1146)GGC>TGC		transglutaminase 2 isoform a	L-Glutamine(DB00130)						99.0	72.0	81.0					20																	36768012		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36768012C>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1144G>T	20.37:g.36768012C>A	ENSP00000355330:p.Gly382Cys					TGM2_uc010zvx.1_Missense_Mutation_p.G301C|TGM2_uc010zvy.1_Missense_Mutation_p.G322C|TGM2_uc002xhs.1_Missense_Mutation_p.G358C|TGM2_uc002xht.2_Missense_Mutation_p.G382C	p.G382C	NM_004613	NP_004604	P21980	TGM2_HUMAN			9	1244	-		Myeloproliferative disorder(115;0.00878)	382					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.1144G>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938078	0.92526	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	D;D;D	0.97256	-4.31;-4.31;-4.31	4.91	4.91	0.64330	.	0.047515	0.85682	D	0.000000	D	0.99029	0.9668	H	0.96720	3.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.99278	1.0895	10	0.87932	D	0	-17.1634	17.298	0.87174	0.0:1.0:0.0:0.0	.	322;301;382;322;382	F5H6P0;B4DIT7;P21980-2;B4DTN7;P21980	.;.;.;.;TGM2_HUMAN	C	382;301;322	ENSP00000355330:G382C;ENSP00000444701:G301C;ENSP00000437479:G322C	ENSP00000355330:G382C	G	-	1	0	TGM2	36201426	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	7.651000	0.83577	2.558000	0.86282	0.591000	0.81541	GGC		0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		9	29	1	0	2.17888e-05	0.006214	2.41732e-05	9	29				
ZNFX1	57169	broad.mit.edu	37	20	47888276	47888276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:47888276C>A	ENST00000396105.1	-	3	319	c.73G>T	c.(73-75)Gga>Tga	p.G25*	ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.G25*|ZNFX1_ENST00000371754.4_Nonsense_Mutation_p.G25*	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	25							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTAACTCTCCATCCACAGGG	0.483																																							uc002xui.2		NA																	0				ovary(2)	2						c.(73-75)GGA>TGA		zinc finger, NFX1-type containing 1							78.0	75.0	76.0					20																	47888276		2203	4300	6503	SO:0001587	stop_gained	57169						metal ion binding	g.chr20:47888276C>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.73G>T	20.37:g.47888276C>A	ENSP00000379412:p.Gly25*						p.G25*	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	320	-			25					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Nonsense_Mutation	SNP	ENST00000396105.1	37	c.73G>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909904	0.92107	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000537431;ENST00000371744	.	.	.	6.03	6.03	0.97812	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.3323	16.0667	0.80887	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000360809:G25X	G	-	1	0	ZNFX1	47321683	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.815000	0.48018	2.854000	0.98071	0.655000	0.94253	GGA		0.483	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		16	37	1	0	6.94344e-10	0.006122	9.15414e-10	16	37				
ZNF217	7764	broad.mit.edu	37	20	52198208	52198208	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:52198208G>T	ENST00000371471.2	-	2	1583	c.1158C>A	c.(1156-1158)acC>acA	p.T386T	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Silent_p.T386T			O75362	ZN217_HUMAN	zinc finger protein 217	386					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCTGGTGGTAGGTTCTGAAAG	0.647																																							uc002xwq.3		NA																	0				skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(1156-1158)ACC>ACA		zinc finger protein 217							80.0	82.0	81.0					20																	52198208		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198208G>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1158C>A	20.37:g.52198208G>T						ZNF217_uc010gij.1_Silent_p.T378T	p.T386T	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	1429	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		386			C2H2-type 5.		E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.1158C>A	CCDS13443.1																																																																																				0.647	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		17	46	1	0	4.14922e-12	0.004007	5.78137e-12	17	46				
MYT1	4661	broad.mit.edu	37	20	62839248	62839248	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:62839248G>T	ENST00000328439.1	+	7	1063	c.699G>T	c.(697-699)caG>caT	p.Q233H	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.Q233H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCGCTCCCAGGACCTGTGTC	0.627																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(697-699)CAG>CAT		myelin transcription factor 1							33.0	34.0	34.0					20																	62839248		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839248G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.699G>T	20.37:g.62839248G>T	ENSP00000327465:p.Gln233His					MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Translation_Start_Site	p.Q233H	NM_004535	NP_004526	Q01538	MYT1_HUMAN			7	1063	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		233			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.699G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	6.368	0.435933	0.12104	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.02498	4.27;4.27	4.35	-0.438	0.12268	.	0.486714	0.20017	N	0.101000	T	0.02767	0.0083	L	0.51422	1.61	0.09310	N	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.37979	-0.9682	10	0.62326	D	0.03	-12.5505	3.6695	0.08269	0.4089:0.0:0.2781:0.3131	.	233	Q01538	MYT1_HUMAN	H	233	ENSP00000327465:Q233H;ENSP00000442412:Q233H	ENSP00000327465:Q233H	Q	+	3	2	MYT1	62309692	0.421000	0.25465	0.490000	0.27465	0.734000	0.41952	-0.233000	0.09041	0.308000	0.22923	0.552000	0.68991	CAG		0.627	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		7	35	1	0	0.00307968	0.00308	0.00315479	7	35				
SAMSN1	64092	broad.mit.edu	37	21	15858294	15858294	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr21:15858294A>T	ENST00000400566.1	-	8	1142	c.1061T>A	c.(1060-1062)cTg>cAg	p.L354Q	SAMSN1_ENST00000400564.1_Missense_Mutation_p.L186Q|SAMSN1_ENST00000285670.2_Missense_Mutation_p.L422Q	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	354					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTCAGACTCCAGATCCTCTTT	0.403																																							uc002yju.1		NA																	0				ovary(3)|pancreas(1)	4						c.(1060-1062)CTG>CAG		SAM domain, SH3 domain and nuclear localization							165.0	152.0	156.0					21																	15858294		1868	4107	5975	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15858294A>T	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.1061T>A	21.37:g.15858294A>T	ENSP00000383411:p.Leu354Gln					SAMSN1_uc010gky.1_Missense_Mutation_p.L186Q|SAMSN1_uc002yjv.1_Missense_Mutation_p.L422Q	p.L354Q	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	8	1143	-			354					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.1061T>A	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	A	6.629	0.484591	0.12641	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	T;T	0.44482	0.92;0.96	6.08	0.985	0.19779	.	1.080180	0.07093	N	0.839102	T	0.42630	0.1211	L	0.36672	1.1	0.09310	N	1	P;D;P	0.53151	0.911;0.958;0.528	B;P;B	0.51135	0.382;0.66;0.133	T	0.39941	-0.9589	10	0.23891	T	0.37	1.0013	11.0211	0.47718	0.695:0.0:0.305:0.0	.	186;422;354	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	Q	422;354;186	ENSP00000285670:L422Q;ENSP00000383411:L354Q	ENSP00000285670:L422Q	L	-	2	0	SAMSN1	14780165	0.050000	0.20438	0.092000	0.20876	0.346000	0.29079	0.592000	0.23984	0.172000	0.19760	0.482000	0.46254	CTG		0.403	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			37	83	0	0	0	0.010771	0	37	83				
BACH1	571	broad.mit.edu	37	21	30699100	30699100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr21:30699100G>T	ENST00000399921.1	+	3	1198	c.955G>T	c.(955-957)Gga>Tga	p.G319*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.G319*	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	315	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGACCCTCATGGACTTTATTC	0.398																																							uc002ynj.2		NA																	0				ovary(1)|liver(1)	2						c.(955-957)GGA>TGA		BTB and CNC homology 1 transcription factor							122.0	127.0	126.0					21																	30699100		2203	4300	6503	SO:0001587	stop_gained	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30699100G>T	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.955G>T	21.37:g.30699100G>T	ENSP00000382805:p.Gly319*					BACH1_uc002ynk.2_Nonsense_Mutation_p.G319*|BACH1_uc002ynl.2_RNA	p.G319*	NM_001186	NP_001177	O14867	BACH1_HUMAN			3	1070	+			319					Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	ENST00000399921.1	37	c.955G>T	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372035	0.95923	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	.	.	.	5.44	4.56	0.56223	.	0.153155	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.8448	14.3571	0.66745	0.0705:0.0:0.9295:0.0	.	.	.	.	X	319	.	ENSP00000286800:G319X	G	+	1	0	BACH1	29620971	0.995000	0.38212	0.672000	0.29872	0.831000	0.47069	3.057000	0.49931	1.541000	0.49316	0.655000	0.94253	GGA		0.398	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		51	120	1	0	9.40368e-32	0.00361	1.66547e-31	51	120				
SPECC1L	23384	broad.mit.edu	37	22	24718430	24718430	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:24718430T>A	ENST00000314328.9	+	5	1767	c.1482T>A	c.(1480-1482)cgT>cgA	p.R494R	SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.R494R|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Silent_p.R494R|SPECC1L_ENST00000541492.1_Silent_p.R494R	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	494					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TAGAGCAACGTTACATGGACC	0.418																																							uc002zzw.2		NA																	0					0						c.(1480-1482)CGT>CGA		cytospin A							86.0	85.0	85.0					22																	24718430		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24718430T>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1482T>A	22.37:g.24718430T>A						CYTSA_uc002zzv.3_Silent_p.R494R|CYTSA_uc011ajq.1_Silent_p.R494R	p.R494R	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			5	1789	+			494			Potential.		B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.1482T>A	CCDS33619.1																																																																																				0.418	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		34	89	0	0	0	0.004289	0	34	89				
RTCB	51493	broad.mit.edu	37	22	32802692	32802692	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:32802692C>A	ENST00000216038.5	-	4	395	c.297G>T	c.(295-297)atG>atT	p.M99I	RTCB_ENST00000451746.2_Missense_Mutation_p.M99I|RTCB_ENST00000476619.1_5'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CAAAGGCTGCCATGTTCCCAA	0.458																																							uc003amm.2		NA																	0					0						c.(295-297)ATG>ATT		hypothetical protein LOC51493							181.0	161.0	168.0					22																	32802692		2203	4300	6503	SO:0001583	missense	51493				cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding	g.chr22:32802692C>A	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.297G>T	22.37:g.32802692C>A	ENSP00000216038:p.Met99Ile					C22orf28_uc011ama.1_RNA	p.M99I	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN			4	428	-			99						Missense_Mutation	SNP	ENST00000216038.5	37	c.297G>T	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538759	0.65085	.	.	ENSG00000100220	ENST00000216038;ENST00000451746	T;T	0.26223	1.75;1.75	5.89	5.89	0.94794	.	0.034453	0.85682	D	0.000000	T	0.20941	0.0504	N	0.16862	0.45	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.03112	-1.1071	10	0.46703	T	0.11	-27.1628	20.2566	0.98424	0.0:1.0:0.0:0.0	.	99	Q9Y3I0	RTCB_HUMAN	I	99	ENSP00000216038:M99I;ENSP00000413466:M99I	ENSP00000216038:M99I	M	-	3	0	C22orf28	31132692	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.718000	0.84743	2.793000	0.96121	0.561000	0.74099	ATG		0.458	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		46	113	1	0	2.37804e-12	0.00361	3.36126e-12	46	113				
RANGAP1	5905	broad.mit.edu	37	22	41670684	41670684	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:41670684G>A	ENST00000455915.2	-	2	1629	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	RANGAP1_ENST00000407260.4_Silent_p.L44L|RANGAP1_ENST00000405486.1_Silent_p.L54L|RANGAP1_ENST00000356244.3_Silent_p.L54L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	54					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCAGACGCAGAGCCTCCAAG	0.512																																							uc003azs.2		NA																	0					0						c.(160-162)CTG>TTG		Ran GTPase activating protein 1							137.0	115.0	122.0					22																	41670684		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41670684G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.160C>T	22.37:g.41670684G>A						RANGAP1_uc003azt.2_Silent_p.L54L|RANGAP1_uc003azu.2_Silent_p.L54L|RANGAP1_uc011aoz.1_Silent_p.L44L	p.L54L	NM_002883	NP_002874	P46060	RAGP1_HUMAN			2	1630	-			54			LRR 1.		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.160C>T	CCDS14012.1																																																																																				0.512	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		7	100	0	0	0	0.00308	0	7	100				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																							uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1135-1137)AGA>AAA		CAP-binding protein complex interacting protein							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	p.R379K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			11	1351	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		6	27	0	0	0	0.001168	0	6	27				
SCN5A	6331	broad.mit.edu	37	3	38628930	38628930	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:38628930G>T	ENST00000333535.4	-	15	2546	c.2397C>A	c.(2395-2397)tcC>tcA	p.S799S	SCN5A_ENST00000451551.2_Silent_p.S799S|SCN5A_ENST00000413689.1_Silent_p.S799S|SCN5A_ENST00000423572.2_Silent_p.S799S|SCN5A_ENST00000425664.1_Silent_p.S799S|SCN5A_ENST00000455624.2_Silent_p.S799S|SCN5A_ENST00000449557.2_Silent_p.S799S|SCN5A_ENST00000414099.2_Silent_p.S799S|SCN5A_ENST00000443581.1_Silent_p.S799S|SCN5A_ENST00000450102.2_Silent_p.S799S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	799					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTCATGCGGGACAGGCCCA	0.597																																							uc003cio.2		NA																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(2395-2397)TCC>TCA		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						101.0	106.0	104.0					3																	38628930		2138	4234	6372	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38628930G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2397C>A	3.37:g.38628930G>T						SCN5A_uc003cin.2_Silent_p.S799S|SCN5A_uc003cil.3_Silent_p.S799S|SCN5A_uc010hhi.2_Silent_p.S799S|SCN5A_uc010hhk.2_Silent_p.S799S|SCN5A_uc011ayr.1_Silent_p.S799S|SCN5A_uc010hhj.1_Silent_p.S410S	p.S799S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	15	2591	-	Medulloblastoma(35;0.163)		799			Helical; Name=S3 of repeat II; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.2397C>A	CCDS46796.1																																																																																				0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		6	29	1	0	0.00116845	0.001168	0.00121817	6	29				
RBM6	10180	broad.mit.edu	37	3	50006042	50006042	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:50006042G>T	ENST00000266022.4	+	3	1443	c.1184G>T	c.(1183-1185)gGg>gTg	p.G395V	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.G263V|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	395					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GACTTTCTTGGGCGGCAAGAC	0.493																																							uc003cyc.2		NA																	0				ovary(2)	2						c.(1183-1185)GGG>GTG		RNA binding motif protein 6							82.0	85.0	84.0					3																	50006042		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50006042G>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1184G>T	3.37:g.50006042G>T	ENSP00000266022:p.Gly395Val					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	p.G395V	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1317	+			395					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1184G>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914185	0.52546	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.36520	1.25;1.29	5.85	5.85	0.93711	.	0.073489	0.56097	D	0.000039	T	0.49592	0.1566	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30995	-0.9959	9	.	.	.	-13.0523	18.3364	0.90290	0.0:0.0:1.0:0.0	.	395	P78332	RBM6_HUMAN	V	395;263	ENSP00000266022:G395V;ENSP00000396466:G263V	.	G	+	2	0	RBM6	49981046	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	6.280000	0.72626	2.779000	0.95612	0.491000	0.48974	GGG		0.493	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		27	63	1	0	3.65163e-15	0.00632	5.50553e-15	27	63				
SPICE1	152185	broad.mit.edu	37	3	113212121	113212121	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:113212121C>A	ENST00000295872.4	-	6	683	c.424G>T	c.(424-426)Ggt>Tgt	p.G142C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	142					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ACAATGGGACCCTGAGAGGAA	0.398																																							uc003eag.3		NA																	0					0						c.(424-426)GGT>TGT		coiled-coil domain containing 52							102.0	97.0	99.0					3																	113212121		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113212121C>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.424G>T	3.37:g.113212121C>A	ENSP00000295872:p.Gly142Cys					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.G38C	p.G142C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			6	715	-			142					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.424G>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997006	0.54147	.	.	ENSG00000163611	ENST00000295872;ENST00000495812;ENST00000480527	T	0.37058	1.22	5.22	-2.67	0.06059	.	0.717017	0.14058	N	0.344256	T	0.38427	0.1040	L	0.56769	1.78	0.09310	N	1	D;P	0.59357	0.985;0.895	P;P	0.49301	0.606;0.606	T	0.39981	-0.9587	10	0.62326	D	0.03	-1.5961	10.7386	0.46139	0.0:0.371:0.0:0.629	.	38;142	B3KX77;Q8N0Z3	.;SPICE_HUMAN	C	142	ENSP00000295872:G142C	ENSP00000295872:G142C	G	-	1	0	SPICE1	114694811	0.001000	0.12720	0.035000	0.18076	0.891000	0.51852	-0.157000	0.10085	-0.538000	0.06281	-0.244000	0.11960	GGT		0.398	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		16	27	1	0	7.07596e-05	0.006122	7.6765e-05	16	27				
KALRN	8997	broad.mit.edu	37	3	124211723	124211723	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:124211723G>A	ENST00000240874.3	+	32	4977	c.4820G>A	c.(4819-4821)aGt>aAt	p.S1607N	KALRN_ENST00000360013.3_Missense_Mutation_p.S1607N|KALRN_ENST00000460856.1_Missense_Mutation_p.S1598N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1607					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACAATAGTAAGAGGTAA	0.507																																							uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4819-4821)AGT>AAT		kalirin, RhoGEF kinase isoform 1							100.0	110.0	107.0					3																	124211723		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124211723G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4820G>A	3.37:g.124211723G>A	ENSP00000240874:p.Ser1607Asn					KALRN_uc010hrv.1_Missense_Mutation_p.S1598N|KALRN_uc003ehf.1_Missense_Mutation_p.S1607N|KALRN_uc011bjy.1_Missense_Mutation_p.S1598N	p.S1607N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			32	4947	+			1607					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4820G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.876591|2.876591	0.51801|0.51801	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.22539|.	1.95;1.95;1.95|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Pleckstrin homology-type (1);|.	0.049843|.	0.85682|.	D|.	0.000000|.	T|T	0.72053|0.72053	0.3413|0.3413	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B;P|.	0.39480|.	0.361;0.421;0.675|.	B;B;B|.	0.41988|.	0.081;0.08;0.372|.	T|T	0.67059|0.67059	-0.5766|-0.5766	10|5	0.31617|.	T|.	0.26|.	.|.	19.6941|19.6941	0.96016|0.96016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1598;1607;1607|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	N|I	1598;1607;1607|1576	ENSP00000418611:S1598N;ENSP00000240874:S1607N;ENSP00000353109:S1607N|.	ENSP00000240874:S1607N|.	S|V	+|+	2|1	0|0	KALRN|KALRN	125694413|125694413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.087000|5.087000	0.64480|0.64480	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		20	42	0	0	0	0.010504	0	20	42				
C3orf56	285311	broad.mit.edu	37	3	126915575	126915575	+	Missense_Mutation	SNP	G	G	T	rs369125533		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:126915575G>T	ENST00000398112.1	+	2	287	c.47G>T	c.(46-48)cGt>cTt	p.R16L		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	16										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AAGGTCCGCCGTGCCTTCGAG	0.607																																							uc003eji.1		NA																	0					NA						c.(46-48)CGT>CTT		RecName: Full=Putative uncharacterized protein C3orf56;							32.0	41.0	38.0					3																	126915575		2068	4191	6259	SO:0001583	missense	0							g.chr3:126915575G>T	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.47G>T	3.37:g.126915575G>T	ENSP00000381182:p.Arg16Leu						p.R16L							2	287	+								B2RNW5	Missense_Mutation	SNP	ENST00000398112.1	37	c.47G>T		.	.	.	.	.	.	.	.	.	.	g	1.765	-0.485864	0.04352	.	.	ENSG00000214324	ENST00000398112	.	.	.	2.33	-4.67	0.03319	.	.	.	.	.	T	0.26159	0.0638	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09930	-1.0652	7	0.42905	T	0.14	.	6.125	0.20174	0.109:0.6096:0.1576:0.1238	.	16	Q8N813	CC056_HUMAN	L	16	.	ENSP00000381182:R16L	R	+	2	0	C3orf56	128398265	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.300000	0.02751	-2.256000	0.00695	-1.092000	0.02172	CGT		0.607	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			7	14	1	0	2.7689e-08	0.001984	3.40609e-08	7	14				
RUVBL1	8607	broad.mit.edu	37	3	127823653	127823653	+	Missense_Mutation	SNP	A	A	C	rs150247734		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:127823653A>C	ENST00000322623.5	-	4	575	c.476T>G	c.(475-477)aTa>aGa	p.I159R	RUVBL1_ENST00000464873.1_Missense_Mutation_p.I99R|RUVBL1_ENST00000417360.1_Missense_Mutation_p.I159R	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	159					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		tttgagtcctatgatcacatg	0.473																																							uc003ekh.2		NA																	0				skin(1)	1						c.(475-477)ATA>AGA		RuvB-like 1							302.0	206.0	238.0					3																	127823653		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127823653A>C	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.476T>G	3.37:g.127823653A>C	ENSP00000318297:p.Ile159Arg					RUVBL1_uc003ekf.2_Missense_Mutation_p.I99R|RUVBL1_uc010hss.2_Missense_Mutation_p.I159R	p.I159R	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	4	580	-			159					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.476T>G	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935962	0.92458	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360	T;T;T	0.69040	-0.32;-0.37;0.05	5.62	5.62	0.85841	TIP49, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	H	0.95294	3.65	0.80722	D	1	P;D;P	0.61697	0.919;0.99;0.723	D;D;P	0.68483	0.93;0.958;0.857	D	0.90771	0.4672	10	0.87932	D	0	-31.8672	15.8284	0.78733	1.0:0.0:0.0:0.0	.	159;159;99	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	R	99;159;159	ENSP00000420738:I99R;ENSP00000318297:I159R;ENSP00000393755:I159R	ENSP00000318297:I159R	I	-	2	0	RUVBL1	129306343	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.233000	0.95337	2.148000	0.66965	0.477000	0.44152	ATA		0.473	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			18	40	0	0	0	0.00499	0	18	40				
ZIC1	7545	broad.mit.edu	37	3	147128353	147128353	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:147128353G>T	ENST00000282928.4	+	1	1183	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	152					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCAGGCTGCCGGCCACGCGTC	0.716																																							uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(454-456)GGC>TGC		zinc finger protein of the cerebellum 1							15.0	19.0	18.0					3																	147128353		2199	4293	6492	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128353G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.454G>T	3.37:g.147128353G>T	ENSP00000282928:p.Gly152Cys						p.G152C	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1173	+			152					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.454G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464390	0.43736	.	.	ENSG00000152977	ENST00000282928	T	0.47528	0.84	3.34	3.34	0.38264	.	0.118751	0.64402	D	0.000019	T	0.39809	0.1092	N	0.14661	0.345	0.38621	D	0.951148	B	0.30211	0.273	P	0.45856	0.495	T	0.48875	-0.8996	10	0.66056	D	0.02	.	7.9769	0.30159	0.1986:0.0:0.8014:0.0	.	152	Q15915	ZIC1_HUMAN	C	152	ENSP00000282928:G152C	ENSP00000282928:G152C	G	+	1	0	ZIC1	148611043	1.000000	0.71417	0.855000	0.33649	0.902000	0.53008	3.822000	0.55708	1.878000	0.54408	0.542000	0.68232	GGC		0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		6	18	1	0	4.096e-09	0.001168	5.19062e-09	6	18				
SI	6476	broad.mit.edu	37	3	164767594	164767594	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:164767594G>C	ENST00000264382.3	-	14	1644	c.1582C>G	c.(1582-1584)Cca>Gca	p.P528A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	528	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTAAACGGTGGATAATTCAAT	0.279										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1582-1584)CCA>GCA		sucrase-isomaltase	Acarbose(DB00284)						92.0	102.0	98.0					3																	164767594		2203	4289	6492	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164767594G>C	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.1582C>G	3.37:g.164767594G>C	ENSP00000264382:p.Pro528Ala	HNSCC(35;0.089)					p.P528A	NM_001041	NP_001032	P14410	SUIS_HUMAN			14	1644	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	528			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1582C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399765	0.62177	.	.	ENSG00000090402	ENST00000264382	D	0.91792	-2.91	5.58	5.58	0.84498	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97539	0.9194	H	0.96080	3.765	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98287	1.0511	10	0.62326	D	0.03	.	18.5615	0.91101	0.0:0.0:1.0:0.0	.	528	P14410	SUIS_HUMAN	A	528	ENSP00000264382:P528A	ENSP00000264382:P528A	P	-	1	0	SI	166250288	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	9.114000	0.94329	2.622000	0.88805	0.585000	0.79938	CCA		0.279	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	36	0	0	0	0.010729	0	10	36				
FNDC3B	64778	broad.mit.edu	37	3	172058969	172058969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:172058969G>T	ENST00000336824.4	+	17	2018	c.1919G>T	c.(1918-1920)gGc>gTc	p.G640V	FNDC3B_ENST00000415807.2_Missense_Mutation_p.G640V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.G640V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	640	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTGAAACCAGGCACTTTGTAC	0.468																																							uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(1918-1920)GGC>GTC		fibronectin type III domain containing 3B							223.0	196.0	205.0					3																	172058969		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172058969G>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1919G>T	3.37:g.172058969G>T	ENSP00000338523:p.Gly640Val					FNDC3B_uc003fhz.3_Missense_Mutation_p.G640V	p.G640V	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	17	2091	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		640			Fibronectin type-III 4.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1919G>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443317	0.83993	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.63096	-0.02;-0.02;-0.02	5.88	5.0	0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.045197	0.85682	D	0.000000	D	0.84383	0.5460	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88270	0.2929	10	0.87932	D	0	-24.7403	15.4388	0.75168	0.0675:0.0:0.9325:0.0	.	640	Q53EP0	FND3B_HUMAN	V	640	ENSP00000411242:G640V;ENSP00000338523:G640V;ENSP00000389094:G640V	ENSP00000338523:G640V	G	+	2	0	FNDC3B	173541663	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.230000	0.95299	2.774000	0.95407	0.655000	0.94253	GGC		0.468	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		46	118	1	0	1.23713e-20	0.00361	2.11463e-20	46	118				
EVC2	132884	broad.mit.edu	37	4	5570366	5570366	+	Splice_Site	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:5570366T>A	ENST00000344408.5	-	20	3415	c.3362A>T	c.(3361-3363)gAg>gTg	p.E1121V	EVC2_ENST00000344938.1_Splice_Site_p.E1121V|EVC2_ENST00000310917.2_Splice_Site_p.E1041V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1121					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTCTCAGCTCCTACAGGAA	0.562																																							uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(3361-3363)GAG>GTG		limbin							30.0	34.0	33.0					4																	5570366		2203	4300	6503	SO:0001630	splice_region_variant	132884					integral to membrane		g.chr4:5570366T>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3361-1A>T	4.37:g.5570366T>A						EVC2_uc011bwb.1_Missense_Mutation_p.E561V|EVC2_uc003gik.2_Missense_Mutation_p.E1041V	p.E1121V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			20	3416	-			1121					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3362A>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685902	0.68157	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.79141	-1.24;-1.22;-1.23	5.3	4.13	0.48395	.	0.194543	0.45361	D	0.000378	T	0.70298	0.3208	L	0.29908	0.895	0.80722	D	1	D	0.54397	0.966	P	0.49012	0.598	T	0.70182	-0.4942	10	0.62326	D	0.03	-24.4173	7.2176	0.25969	0.0:0.1042:0.0:0.8958	.	1121	Q86UK5	LBN_HUMAN	V	1121;1041;1121	ENSP00000339954:E1121V;ENSP00000311683:E1041V;ENSP00000342144:E1121V	ENSP00000311683:E1041V	E	-	2	0	EVC2	5621267	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.267000	0.43329	0.866000	0.35629	0.418000	0.28097	GAG		0.562	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	Missense_Mutation	7	9	0	0	0	0.001984	0	7	9				
PI4K2B	55300	broad.mit.edu	37	4	25262192	25262192	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:25262192T>A	ENST00000264864.6	+	6	1146	c.957T>A	c.(955-957)tgT>tgA	p.C319*	PI4K2B_ENST00000512921.1_Nonsense_Mutation_p.C223*	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	319	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AGCAGAAATGTGAAAAGGAAA	0.294																																							uc003grk.2		NA																	0				ovary(2)|skin(2)	4						c.(955-957)TGT>TGA		phosphatidylinositol 4-kinase type 2 beta							113.0	119.0	117.0					4																	25262192		2203	4299	6502	SO:0001587	stop_gained	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25262192T>A	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.957T>A	4.37:g.25262192T>A	ENSP00000264864:p.Cys319*					PI4K2B_uc011bxs.1_Nonsense_Mutation_p.C223*	p.C319*	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN			6	1090	+		Breast(46;0.173)	319			PI3K/PI4K.		Q9NUW2	Nonsense_Mutation	SNP	ENST00000264864.6	37	c.957T>A	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350643	0.82132	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	.	.	.	5.0	-1.93	0.07594	.	0.876283	0.09571	N	0.784203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	1.2409	1.4249	0.02320	0.1265:0.2204:0.1433:0.5098	.	.	.	.	X	223;319;288	.	ENSP00000264864:C319X	C	+	3	2	PI4K2B	24871290	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	0.453000	0.21811	-0.498000	0.06632	-0.280000	0.10049	TGT		0.294	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		28	54	0	0	0	0.009535	0	28	54				
PI4K2B	55300	broad.mit.edu	37	4	25262206	25262206	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:25262206A>C	ENST00000264864.6	+	6	1160	c.971A>C	c.(970-972)gAc>gCc	p.D324A	PI4K2B_ENST00000512921.1_Missense_Mutation_p.D228A	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	324	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AAGGAAATTGACCATAAGGTA	0.289																																							uc003grk.2		NA																	0				ovary(2)|skin(2)	4						c.(970-972)GAC>GCC		phosphatidylinositol 4-kinase type 2 beta							92.0	97.0	95.0					4																	25262206		2203	4298	6501	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25262206A>C	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.971A>C	4.37:g.25262206A>C	ENSP00000264864:p.Asp324Ala					PI4K2B_uc011bxs.1_Missense_Mutation_p.D228A	p.D324A	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN			6	1104	+		Breast(46;0.173)	324			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.971A>C	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	A	3.779	-0.046034	0.07452	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T	0.44083	0.93	4.18	1.4	0.22301	Phosphatidylinositol 3-/4-kinase, catalytic (1);	1.739400	0.02284	N	0.069680	T	0.18800	0.0451	N	0.02247	-0.625	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.24870	-1.0148	10	0.09590	T	0.72	-0.5165	6.655	0.22982	0.6347:0.2603:0.1049:0.0	.	324	Q8TCG2	P4K2B_HUMAN	A	228;324;293	ENSP00000264864:D324A	ENSP00000264864:D324A	D	+	2	0	PI4K2B	24871304	0.020000	0.18652	0.001000	0.08648	0.022000	0.10575	1.708000	0.37899	0.556000	0.29098	-0.297000	0.09499	GAC		0.289	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		20	44	0	0	0	0.012319	0	20	44				
ARAP2	116984	broad.mit.edu	37	4	36109211	36109211	+	Missense_Mutation	SNP	C	C	T	rs368144802		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:36109211C>T	ENST00000303965.4	-	27	4750	c.4261G>A	c.(4261-4263)Gct>Act	p.A1421T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1421					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)			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						ATTGTGTCAGCGGTTAAGAAT	0.423																																							uc003gsq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4261-4263)GCT>ACT		ArfGAP with RhoGAP domain, ankyrin repeat and PH		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	132.0	124.0	127.0		4261	-4.3	0.0	4		127	0,8600		0,0,4300	no	missense	ARAP2	NM_015230.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1421/1705	36109211	1,13005	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.chr4:36109211C>T	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.4261G>A	4.37:g.36109211C>T	ENSP00000302895:p.Ala1421Thr						p.A1421T	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			27	4599	-			1421					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.4261G>A	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	1.317	-0.600467	0.03744	2.27E-4	0.0	ENSG00000047365	ENST00000303965	T	0.08008	3.14	6.06	-4.32	0.03688	.	1.163970	0.05998	N	0.647232	T	0.06554	0.0168	L	0.34521	1.04	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.42682	-0.9437	10	0.22706	T	0.39	.	9.8449	0.41021	0.0:0.4353:0.0992:0.4655	.	1421	Q8WZ64	ARAP2_HUMAN	T	1421	ENSP00000302895:A1421T	ENSP00000302895:A1421T	A	-	1	0	ARAP2	35785606	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.829000	0.04415	-1.006000	0.03412	-1.655000	0.00754	GCT		0.423	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		26	72	0	0	0	0.007291	0	26	72				
PDGFRA	5156	broad.mit.edu	37	4	55151611	55151611	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55151611C>A	ENST00000257290.5	+	17	2728	c.2397C>A	c.(2395-2397)acC>acA	p.T799T	FIP1L1_ENST00000507166.1_Silent_p.T559T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	799	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGAGCTTCACCTATCAAGTTG	0.393			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2395-2397)ACC>ACA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						91.0	89.0	89.0					4																	55151611		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55151611C>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2397C>A	4.37:g.55151611C>A		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Silent_p.T559T	p.T799T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		17	2728	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		799			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2397C>A	CCDS3495.1																																																																																				0.393	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		28	43	1	0	3.73988e-18	0.00632	6.04135e-18	28	43				
PDGFRA	5156	broad.mit.edu	37	4	55155207	55155207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55155207G>T	ENST00000257290.5	+	21	3137	c.2806G>T	c.(2806-2808)Gag>Tag	p.E936*	FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.E696*	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	936	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTGGAACAGTGAGCCGGAGAA	0.537			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2806-2808)GAG>TAG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						154.0	146.0	149.0					4																	55155207		2203	4300	6503	SO:0001587	stop_gained	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55155207G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2806G>T	4.37:g.55155207G>T	ENSP00000257290:p.Glu936*	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Nonsense_Mutation_p.E696*	p.E936*	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		21	3137	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		936			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Nonsense_Mutation	SNP	ENST00000257290.5	37	c.2806G>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	44	10.949326	0.99493	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	.	.	.	6.07	6.07	0.98685	.	0.000000	0.32343	U	0.006224	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	X	696;936	.	ENSP00000423325:E696X	E	+	1	0	FIP1L1;PDGFRA	54849964	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.030000	0.88816	2.885000	0.99019	0.655000	0.94253	GAG		0.537	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		13	35	1	0	1.49906e-05	0.00245	1.66941e-05	13	35				
KDR	3791	broad.mit.edu	37	4	55981449	55981449	+	Splice_Site	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55981449G>T	ENST00000263923.4	-	4	783	c.488C>A	c.(487-489)gCa>gAa	p.A163E		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	163	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A163E(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAACTTACTGCACAAAGTGA	0.358			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(487-489)GCA>GAA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						119.0	112.0	114.0					4																	55981449		2203	4300	6503	SO:0001630	splice_region_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55981449G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.489+1C>A	4.37:g.55981449G>T		TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.A163E|KDR_uc011bzx.1_Missense_Mutation_p.A163E	p.A163E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		4	790	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		163			Ig-like C2-type 2.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.488C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985289	0.93044	.	.	ENSG00000128052	ENST00000263923	T	0.45668	0.89	5.75	5.75	0.90469	Immunoglobulin-like fold (1);	0.052413	0.85682	D	0.000000	T	0.55513	0.1925	L	0.38838	1.175	0.52501	D	0.999957	D;D	0.89917	1.0;0.975	D;P	0.91635	0.999;0.698	T	0.44513	-0.9323	10	0.28530	T	0.3	.	18.121	0.89571	0.0:0.0:1.0:0.0	.	163;163	P35968-2;P35968	.;VGFR2_HUMAN	E	163	ENSP00000263923:A163E	ENSP00000263923:A163E	A	-	2	0	KDR	55676206	1.000000	0.71417	0.983000	0.44433	0.946000	0.59487	6.022000	0.70839	2.708000	0.92522	0.655000	0.94253	GCA		0.358	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Missense_Mutation	11	20	1	0	1.08611e-07	0.010729	1.29803e-07	11	20				
PPAT	5471	broad.mit.edu	37	4	57272723	57272723	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:57272723G>A	ENST00000264220.2	-	3	477	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	114	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	ATCTTCCCATGAAGTGTTTCA	0.383																																							uc003hbr.2		NA																	0					0						c.(340-342)CAT>TAT		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						162.0	135.0	144.0					4																	57272723		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57272723G>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.340C>T	4.37:g.57272723G>A	ENSP00000264220:p.His114Tyr						p.H114Y	NM_002703	NP_002694	Q06203	PUR1_HUMAN			3	542	-	Glioma(25;0.08)|all_neural(26;0.101)		114			Glutamine amidotransferase type-2.			Missense_Mutation	SNP	ENST00000264220.2	37	c.340C>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748825	0.89753	.	.	ENSG00000128059	ENST00000264220	T	0.76186	-1.0	5.62	5.62	0.85841	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	N	0.11845	0.185	0.80722	D	1	B	0.24186	0.099	B	0.31751	0.135	T	0.57499	-0.7801	10	0.22109	T	0.4	-23.0132	19.6664	0.95894	0.0:0.0:1.0:0.0	.	114	Q06203	PUR1_HUMAN	Y	114	ENSP00000264220:H114Y	ENSP00000264220:H114Y	H	-	1	0	PPAT	56967480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.421000	0.97455	2.646000	0.89796	0.585000	0.79938	CAT		0.383	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		5	113	0	0	0	0.001984	0	5	113				
REST	5978	broad.mit.edu	37	4	57798155	57798155	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:57798155G>A	ENST00000309042.7	+	4	3445	c.3131G>A	c.(3130-3132)aGa>aAa	p.R1044K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1044	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAATCTAGCAGAAAAAATGCA	0.443																																							uc003hch.2		NA																	0				skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(3130-3132)AGA>AAA		RE1-silencing transcription factor							71.0	67.0	68.0					4																	57798155		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57798155G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.3131G>A	4.37:g.57798155G>A	ENSP00000311816:p.Arg1044Lys					REST_uc003hci.2_Missense_Mutation_p.R1044K|REST_uc010ihf.2_Missense_Mutation_p.R718K	p.R1044K	NM_005612	NP_005603	Q13127	REST_HUMAN			4	3478	+	Glioma(25;0.08)|all_neural(26;0.181)		1044			Interaction with RCOR1.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.3131G>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	5.438	0.265973	0.10294	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.32272	1.46	5.95	0.788	0.18601	.	0.875511	0.09572	N	0.784070	T	0.18841	0.0452	L	0.36672	1.1	0.09310	N	1	P;B	0.38370	0.628;0.146	B;B	0.31869	0.137;0.024	T	0.14868	-1.0457	10	0.27785	T	0.31	-0.5622	6.3392	0.21312	0.1362:0.5901:0.1748:0.0989	.	1021;1044	F8WAN5;Q13127	.;REST_HUMAN	K	1044;1021	ENSP00000311816:R1044K	ENSP00000311816:R1044K	R	+	2	0	REST	57492912	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.453000	0.21811	0.805000	0.34159	0.655000	0.94253	AGA		0.443	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		4	60	0	0	0	0.000602	0	4	60				
LPHN3	23284	broad.mit.edu	37	4	62599194	62599194	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:62599194G>T	ENST00000514591.1	+	7	1446	c.1117G>T	c.(1117-1119)Gac>Tac	p.D373Y	LPHN3_ENST00000545650.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.D373Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.D441Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	373	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)			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						CAACCCCAGGGACAACCTACT	0.398																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1117-1119)GAC>TAC		latrophilin 3 precursor							84.0	75.0	78.0					4																	62599194		1881	4112	5993	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599194G>T	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.1117G>T	4.37:g.62599194G>T	ENSP00000422533:p.Asp373Tyr					LPHN3_uc003hcq.3_Missense_Mutation_p.D373Y|LPHN3_uc010ihg.1_Missense_Mutation_p.D441Y|LPHN3_uc003hcs.1_Missense_Mutation_p.D202Y	p.D373Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	1290	+			373			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1117G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601414	0.66445	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.97087	0.9048	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.97983	1.0350	10	0.87932	D	0	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	373;441;373	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Y	373;373;441;441;373;373;373;373;373;441;441;441;373;373;373;441;441;373	ENSP00000423388:D373Y;ENSP00000422533:D373Y;ENSP00000423787:D441Y;ENSP00000425033:D441Y;ENSP00000424120:D373Y;ENSP00000439831:D373Y;ENSP00000421476:D441Y;ENSP00000424030:D441Y;ENSP00000421372:D441Y;ENSP00000425201:D373Y;ENSP00000423434:D373Y;ENSP00000421627:D373Y;ENSP00000420931:D441Y;ENSP00000425884:D441Y;ENSP00000424258:D373Y	ENSP00000280009:D373Y	D	+	1	0	LPHN3	62281789	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.471000	0.83476	0.557000	0.71058	GAC		0.398	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			9	20	1	0	0.000274275	0.004482	0.000289021	9	20				
SLC10A6	345274	broad.mit.edu	37	4	87770045	87770045	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:87770045T>A	ENST00000273905.6	-	1	371	c.224A>T	c.(223-225)cAg>cTg	p.Q75L	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	75					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GAGCCCAAACTGGCAGAGCAG	0.552																																							uc003hqd.2		NA																	0					0						c.(223-225)CAG>CTG		sodium-dependent organic anion transporter							73.0	63.0	66.0					4																	87770045		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87770045T>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.224A>T	4.37:g.87770045T>A	ENSP00000273905:p.Gln75Leu						p.Q75L	NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	372	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	75			Helical; (Potential).		Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.224A>T	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950806	0.92660	.	.	ENSG00000145283	ENST00000273905	T	0.14391	2.51	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000002	T	0.50326	0.1609	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.65203	-0.6225	10	0.87932	D	0	-26.8801	14.1942	0.65659	0.0:0.0:0.0:1.0	.	75	Q3KNW5	SOAT_HUMAN	L	75	ENSP00000273905:Q75L	ENSP00000273905:Q75L	Q	-	2	0	SLC10A6	87989069	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.930000	0.87610	2.234000	0.73211	0.533000	0.62120	CAG		0.552	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		16	38	0	0	0	0.004007	0	16	38				
TET2	54790	broad.mit.edu	37	4	106157551	106157551	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:106157551C>G	ENST00000540549.1	+	3	3312	c.2452C>G	c.(2452-2454)Cct>Gct	p.P818A	TET2_ENST00000380013.4_Missense_Mutation_p.P818A|TET2_ENST00000513237.1_Missense_Mutation_p.P839A|TET2_ENST00000413648.2_Missense_Mutation_p.P818A|TET2_ENST00000394764.1_Missense_Mutation_p.P818A|TET2_ENST00000305737.2_Missense_Mutation_p.P818A|TET2_ENST00000545826.1_Missense_Mutation_p.P818A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	818	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.S817fs*2(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAGAAATTCCCCTTATAGTCA	0.363			"""Mis N, F"""		MDS																																		uc003hxk.2		NA		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.S817fs*2(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(2452-2454)CCT>GCT		tet oncogene family member 2 isoform a							54.0	57.0	56.0					4																	106157551		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157551C>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2452C>G	4.37:g.106157551C>G	ENSP00000442788:p.Pro818Ala					TET2_uc011cez.1_Missense_Mutation_p.P839A|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.P818A|TET2_uc003hxi.1_Missense_Mutation_p.P818A	p.P818A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2838	+		Myeloproliferative disorder(5;0.0393)	818			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.2452C>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	1.065	-0.671713	0.03403	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.03920	3.78;4.47;3.76;4.46;4.47;3.78;3.79	5.79	1.49	0.22878	.	6.110550	0.00397	N	0.000056	T	0.05640	0.0148	L	0.32530	0.975	0.09310	N	1	B;B;P	0.38827	0.104;0.104;0.649	B;B;B	0.36666	0.058;0.058;0.23	T	0.37979	-0.9682	10	0.39692	T	0.17	.	7.5379	0.27721	0.2373:0.618:0.0:0.1447	.	839;818;818	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	A	818;818;818;839;818;818;818	ENSP00000306705:P818A;ENSP00000442788:P818A;ENSP00000442867:P818A;ENSP00000425443:P839A;ENSP00000369351:P818A;ENSP00000378245:P818A;ENSP00000391448:P818A	ENSP00000265149:P818A	P	+	1	0	TET2	106377000	0.085000	0.21516	0.007000	0.13788	0.248000	0.25809	0.751000	0.26348	0.332000	0.23536	-0.182000	0.12963	CCT		0.363	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		6	64	0	0	0	0.001168	0	6	64				
COL25A1	84570	broad.mit.edu	37	4	109745365	109745365	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:109745365C>A	ENST00000399132.1	-	35	2340	c.1810G>T	c.(1810-1812)Ggt>Tgt	p.G604C	COL25A1_ENST00000399126.1_Missense_Mutation_p.G604C|COL25A1_ENST00000399127.1_Missense_Mutation_p.G607C	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCCTTCTCACCCCGTGGACCA	0.413																																							uc003hze.1		NA																	0				ovary(2)	2						c.(1810-1812)GGT>TGT		collagen, type XXV, alpha 1 isoform 1							134.0	136.0	136.0					4																	109745365		1906	4129	6035	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109745365C>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1810G>T	4.37:g.109745365C>A	ENSP00000382083:p.Gly604Cys					COL25A1_uc003hzg.2_Missense_Mutation_p.G604C|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G392C	p.G604C	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	34	2341	-		Hepatocellular(203;0.217)	604			Extracellular (Potential).|Collagen-like 7.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1810G>T	CCDS43258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.24|16.24	3.067711|3.067711	0.55539|0.55539	.|.	.|.	ENSG00000188517|ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000399127;ENST00000399126|ENST00000512961	D;D;D|.	0.99637|.	-6.29;-6.29;-6.29|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90386|0.90386	0.6991|0.6991	H|H	0.97077|0.97077	3.935|3.935	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.92750|0.92750	0.6215|0.6215	9|6	.|.	.|.	.|.	-5.1879|-5.1879	20.2631|20.2631	0.98458|0.98458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	604;604|.	Q9BXS0-2;Q9BXS0|.	.;COPA1_HUMAN|.	C|V	604;606;607;604|4	ENSP00000382083:G604C;ENSP00000382078:G607C;ENSP00000382077:G604C|.	.|.	G|G	-|-	1|2	0|0	COL25A1|COL25A1	109964814|109964814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.205000|7.205000	0.77881|0.77881	2.788000|2.788000	0.95919|0.95919	0.655000|0.655000	0.94253|0.94253	GGT|GGG		0.413	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		17	59	1	0	5.3912e-06	0.006122	6.07285e-06	17	59				
SPATA5	166378	broad.mit.edu	37	4	123949440	123949440	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:123949440G>T	ENST00000274008.4	+	11	2038	c.1969G>T	c.(1969-1971)Ggt>Tgt	p.G657C	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	657					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CATTCGAATGGGTATTCAGCC	0.448																																							uc003iez.3		NA																	0					0						c.(1969-1971)GGT>TGT		spermatogenesis associated 5							139.0	134.0	136.0					4																	123949440		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123949440G>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1969G>T	4.37:g.123949440G>T	ENSP00000274008:p.Gly657Cys					SPATA5_uc003iey.2_Missense_Mutation_p.G656C	p.G657C	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			11	2042	+			657					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.1969G>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782979	0.90282	.	.	ENSG00000145375	ENST00000274008	D	0.96011	-3.88	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.97	D	0.99226	1.0880	10	0.87932	D	0	-12.9936	20.0308	0.97536	0.0:0.0:1.0:0.0	.	657;657	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	C	657	ENSP00000274008:G657C	ENSP00000274008:G657C	G	+	1	0	SPATA5	124168890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.478000	0.81082	2.732000	0.93576	0.585000	0.79938	GGT		0.448	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		36	104	1	0	1.57351e-24	0.003755	2.73736e-24	36	104				
FAT4	79633	broad.mit.edu	37	4	126411059	126411059	+	Missense_Mutation	SNP	G	G	T	rs199797338	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:126411059G>T	ENST00000394329.3	+	17	13095	c.13082G>T	c.(13081-13083)gGt>gTt	p.G4361V	FAT4_ENST00000335110.5_Missense_Mutation_p.G2602V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4361	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCCCAGCAGGTTTTGATGGC	0.418													G|||	9	0.00179712	0.0	0.0	5008	,	,		13492	0.0079		0.0	False		,,,				2504	0.001						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13081-13083)GGT>GTT		FAT tumor suppressor homolog 4 precursor							115.0	121.0	119.0					4																	126411059		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411059G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13082G>T	4.37:g.126411059G>T	ENSP00000377862:p.Gly4361Val					FAT4_uc011cgp.1_Missense_Mutation_p.G2602V|FAT4_uc003ifi.1_Missense_Mutation_p.G1838V	p.G4361V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13082	+			4361			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13082G>T	CCDS3732.3	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.87	2.066079	0.36470	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;T	0.82081	-1.57;-1.38	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.34853	U	0.003634	D	0.91040	0.7181	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.968;1.0	D;P;D	0.97110	1.0;0.757;0.999	D	0.90638	0.4572	10	0.42905	T	0.14	.	17.8878	0.88862	0.0:0.0:1.0:0.0	.	2602;4361;4360	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	4361;2602	ENSP00000377862:G4361V;ENSP00000335169:G2602V	ENSP00000335169:G2602V	G	+	2	0	FAT4	126630509	1.000000	0.71417	0.853000	0.33588	0.507000	0.33981	7.797000	0.85911	2.452000	0.82932	0.561000	0.74099	GGT		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		56	111	1	0	2.43277e-16	0.00361	3.80444e-16	56	111				
INPP4B	8821	broad.mit.edu	37	4	143159166	143159166	+	Splice_Site	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:143159166T>C	ENST00000513000.1	-	13	1122		c.e13-2		INPP4B_ENST00000509777.1_Splice_Site|INPP4B_ENST00000262992.4_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa						cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTTTAACACTGGAAAAAAAA	0.313																																							uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.e13-1		inositol polyphosphate-4-phosphatase, type II,							28.0	28.0	28.0					4																	143159166		2201	4294	6495	SO:0001630	splice_region_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143159166T>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.689-2A>G	4.37:g.143159166T>C						INPP4B_uc003iiw.3_Splice_Site_p.V230_splice|INPP4B_uc011chm.1_Splice_Site|INPP4B_uc011chn.1_Splice_Site_p.V45_splice|INPP4B_uc011cho.1_Splice_Site|INPP4B_uc011chp.1_Splice_Site_p.V101_splice	p.V230_splice	NM_003866	NP_003857	O15327	INP4B_HUMAN			13	1284	-	all_hematologic(180;0.158)							Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Splice_Site	SNP	ENST00000513000.1	37	c.689_splice	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633633	0.47049	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.874	0.79148	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	INPP4B	143378616	1.000000	0.71417	0.983000	0.44433	0.337000	0.28794	7.454000	0.80714	2.194000	0.70268	0.533000	0.62120	.		0.313	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	Intron	4	19	0	0	0	0.009096	0	4	19				
FAM105A	54491	broad.mit.edu	37	5	14601073	14601073	+	Splice_Site	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:14601073G>C	ENST00000274217.3	+	2	184		c.e2-1			NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A											large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AATTTTCATAGGAAGTGACCA	0.353																																							uc003jfj.2		NA																	0				ovary(1)	1						c.e2-1		hypothetical protein LOC54491							56.0	50.0	52.0					5																	14601073		2203	4300	6503	SO:0001630	splice_region_variant	54491							g.chr5:14601073G>C		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.65-1G>C	5.37:g.14601073G>C							p.G22_splice	NM_019018	NP_061891	Q9NUU6	F105A_HUMAN			2	178	+	Lung NSC(4;0.00592)							Q53H50|Q9H037	Splice_Site	SNP	ENST00000274217.3	37	c.65_splice	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986028	0.35036	.	.	ENSG00000145569	ENST00000274217	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.621	0.84930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM105A	14654073	1.000000	0.71417	0.996000	0.52242	0.579000	0.36224	5.629000	0.67798	2.666000	0.90696	0.561000	0.74099	.		0.353	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018	Intron	16	24	0	0	0	0.004007	0	16	24				
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582										HNSCC(3;0.000094)																													uc003jgo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2476-2478)CAC>CAA		PR domain containing 9							40.0	53.0	49.0					5																	23527675		2146	4271	6417	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527675C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2478C>A	5.37:g.23527675C>A	ENSP00000296682:p.His826Gln	HNSCC(3;0.000094)					p.H826Q	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2660	+			826			C2H2-type 12.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2478C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567521	0.45694	.	.	ENSG00000164256	ENST00000296682	T	0.66995	-0.24	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85526	0.5717	H	0.95504	3.68	0.46167	D	0.998909	D	0.89917	1.0	D	0.87578	0.998	D	0.89164	0.3532	9	0.87932	D	0	-2.2506	12.4022	0.55420	0.0:1.0:0.0:0.0	.	826	Q9NQV7	PRDM9_HUMAN	Q	826	ENSP00000296682:H826Q	ENSP00000296682:H826Q	H	+	3	2	PRDM9	23563432	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	1.818000	0.39012	2.038000	0.60285	0.472000	0.43445	CAC		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		48	165	1	0	3.89483e-19	0.00361	6.43303e-19	48	165				
CRHBP	1393	broad.mit.edu	37	5	76249022	76249022	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:76249022G>A	ENST00000274368.4	+	1	485	c.63G>A	c.(61-63)ggG>ggA	p.G21G	CRHBP_ENST00000506501.1_Silent_p.G21G	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	21					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CTCTAAGAGGGGAAAGCCGGT	0.597																																							uc003ker.2		NA																	0					0						c.(61-63)GGG>GGA		corticotropin releasing hormone binding protein							112.0	97.0	102.0					5																	76249022		2203	4300	6503	SO:0001819	synonymous_variant	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76249022G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.63G>A	5.37:g.76249022G>A						CRHBP_uc010izx.2_Silent_p.G21G	p.G21G	NM_001882	NP_001873	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	1	343	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	21					Q53F32|Q6FHT5	Silent	SNP	ENST00000274368.4	37	c.63G>A	CCDS4034.1																																																																																				0.597	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		8	21	0	0	0	0.00308	0	8	21				
VCAN	1462	broad.mit.edu	37	5	82835845	82835845	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:82835845A>T	ENST00000265077.3	+	8	7588	c.7023A>T	c.(7021-7023)gcA>gcT	p.A2341A	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.A1354A|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2341	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACACTGGAGCAGAAGGACCCA	0.468																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(7021-7023)GCA>GCT		versican isoform 1 precursor							92.0	87.0	88.0					5																	82835845		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835845A>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7023A>T	5.37:g.82835845A>T						VCAN_uc003kij.3_Silent_p.A1354A|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.A1005A	p.A2341A	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7379	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2341			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.7023A>T	CCDS4060.1																																																																																				0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		21	69	0	0	0	0.010504	0	21	69				
SHROOM1	134549	broad.mit.edu	37	5	132159951	132159951	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:132159951T>C	ENST00000378679.3	-	7	2206	c.1402A>G	c.(1402-1404)Agc>Ggc	p.S468G	SHROOM1_ENST00000378676.1_Missense_Mutation_p.S399G|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S468G	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	468					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGTGTGGCTTGTGGGCCTG	0.567																																							uc003kxx.2		NA																	0				pancreas(1)	1						c.(1402-1404)AGC>GGC		shroom family member 1							102.0	92.0	96.0					5																	132159951		2203	4300	6503	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132159951T>C	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1402A>G	5.37:g.132159951T>C	ENSP00000367950:p.Ser468Gly					SHROOM1_uc003kxy.1_Missense_Mutation_p.S468G	p.S468G	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	2207	-			468					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.1402A>G	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	T	2.398	-0.338373	0.05243	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.27720	1.65;1.65;1.68	4.11	0.47	0.16747	.	0.946125	0.08950	N	0.870271	T	0.15652	0.0377	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.29912	-0.9996	10	0.38643	T	0.18	-2.4851	0.3113	0.00288	0.3586:0.1484:0.1466:0.3465	.	468;468	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	G	468;468;399	ENSP00000367950:S468G;ENSP00000324245:S468G;ENSP00000367947:S399G	ENSP00000324245:S468G	S	-	1	0	SHROOM1	132187850	0.002000	0.14202	0.055000	0.19348	0.129000	0.20672	-0.256000	0.08757	0.086000	0.17137	0.459000	0.35465	AGC		0.567	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		18	35	0	0	0	0.006122	0	18	35				
PCDHA6	56142	broad.mit.edu	37	5	140209817	140209817	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140209817C>A	ENST00000529310.1	+	1	2255	c.2141C>A	c.(2140-2142)aCg>aAg	p.T714K	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	714					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T714M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706																																							uc003lho.2		NA																	2	Substitution - Missense(2)		breast(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2140-2142)ACG>AAG		protocadherin alpha 6 isoform 1 precursor							56.0	56.0	56.0					5																	140209817		2201	4298	6499	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209817C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2141C>A	5.37:g.140209817C>A	ENSP00000433378:p.Thr714Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.T714K	p.T714K	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2168	+			714			Helical; (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2141C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	8.821	0.937500	0.18206	.	.	ENSG00000081842	ENST00000529310	T	0.14144	2.53	4.12	-1.33	0.09172	.	0.217169	0.21872	U	0.067861	T	0.22399	0.0540	M	0.93978	3.48	0.09310	N	0.999999	P;P	0.41947	0.759;0.766	B;B	0.43018	0.405;0.312	T	0.14117	-1.0484	10	0.72032	D	0.01	.	3.1076	0.06347	0.1215:0.5406:0.1185:0.2195	.	714;714	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	K	714	ENSP00000433378:T714K	ENSP00000433378:T714K	T	+	2	0	PCDHA6	140190001	.	.	0.240000	0.24138	0.022000	0.10575	.	.	-0.081000	0.12662	-0.683000	0.03753	ACG		0.706	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		28	96	1	0	1.16021e-09	0.007291	1.5093e-09	28	96				
PCDHA13	56136	broad.mit.edu	37	5	140264050	140264050	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140264050G>T	ENST00000289272.2	+	1	2197	c.2197G>T	c.(2197-2199)Gcg>Tcg	p.A733S	PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A733S|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A733T(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGTGCGCGCCGGGCAA	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2197-2199)GCG>TCG		protocadherin alpha 13 isoform 1 precursor							60.0	65.0	63.0					5																	140264050		2202	4297	6499	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140264050G>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2197G>T	5.37:g.140264050G>T	ENSP00000289272:p.Ala733Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A733S|PCDHA13_uc003lid.2_Missense_Mutation_p.A733S	p.A733S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2197	+			733			Cytoplasmic (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2197G>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	8.120	0.780819	0.16120	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.12255	2.7;2.7	4.61	4.61	0.57282	.	.	.	.	.	T	0.17109	0.0411	M	0.77820	2.39	0.09310	N	1	B;B;B	0.17667	0.005;0.006;0.023	B;B;B	0.19391	0.007;0.005;0.025	T	0.41360	-0.9513	9	0.08599	T	0.76	.	10.6978	0.45909	0.0889:0.0:0.9111:0.0	.	733;733;733	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	733	ENSP00000386821:A733S;ENSP00000289272:A733S	ENSP00000289272:A733S	A	+	1	0	PCDHA13	140244234	0.118000	0.22208	0.190000	0.23270	0.052000	0.14988	2.263000	0.43293	2.084000	0.62774	0.655000	0.94253	GCG		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		26	92	1	0	1.03484e-13	0.005524	1.50615e-13	26	92				
PCDHAC2	56134	broad.mit.edu	37	5	140347559	140347559	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140347559G>T	ENST00000289269.5	+	1	1740	c.1208G>T	c.(1207-1209)gGt>gTt	p.G403V	PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCCTGGGTCTGGAGGCC	0.567																																					Melanoma(190;638 2083 3390 11909 52360)	Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(1207-1209)GGT>GTT		protocadherin alpha subfamily C, 2 isoform 1							85.0	80.0	82.0					5																	140347559		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347559G>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1208G>T	5.37:g.140347559G>T	ENSP00000289269:p.Gly403Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.G403V	p.G403V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1448	+			403			Extracellular (Potential).|Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1208G>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	3.388	-0.124832	0.06795	.	.	ENSG00000243232	ENST00000289269	T	0.50813	0.73	5.61	3.73	0.42828	Cadherin (4);Cadherin-like (1);	0.537533	0.15598	N	0.254045	T	0.27384	0.0672	N	0.04508	-0.205	0.21802	N	0.999533	B;P	0.37594	0.001;0.601	B;B	0.33620	0.002;0.167	T	0.13629	-1.0502	10	0.45353	T	0.12	.	16.1142	0.81289	0.0:0.2515:0.7485:0.0	.	403;403	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	V	403	ENSP00000289269:G403V	ENSP00000289269:G403V	G	+	2	0	PCDHAC2	140327743	0.089000	0.21612	0.361000	0.25849	0.230000	0.25150	2.594000	0.46189	1.338000	0.45544	0.655000	0.94253	GGT		0.567	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		20	85	1	0	0.00152264	0.010504	0.00158182	20	85				
PCDHB3	56132	broad.mit.edu	37	5	140481682	140481682	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140481682C>A	ENST00000231130.2	+	1	1449	c.1449C>A	c.(1447-1449)aaC>aaA	p.N483K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCACCAACGCCCAGGTAA	0.632																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1447-1449)AAC>AAA		protocadherin beta 3 precursor							91.0	94.0	93.0					5																	140481682		2203	4298	6501	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481682C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1449C>A	5.37:g.140481682C>A	ENSP00000231130:p.Asn483Lys					uc003lin.2_Intron	p.N483K	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1449	+			483			Extracellular (Potential).|Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1449C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529623	0.27387	.	.	ENSG00000113205	ENST00000231130	T	0.59906	0.23	4.24	2.35	0.29111	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78559	0.4302	H	0.94462	3.54	0.37918	D	0.931599	D	0.89917	1.0	D	0.97110	1.0	T	0.80171	-0.1493	9	0.87932	D	0	.	6.4998	0.22162	0.0:0.5867:0.0:0.4133	.	483	Q9Y5E6	PCDB3_HUMAN	K	483	ENSP00000231130:N483K	ENSP00000231130:N483K	N	+	3	2	PCDHB3	140461866	0.013000	0.17824	0.992000	0.48379	0.103000	0.19146	-1.034000	0.03567	0.873000	0.35799	0.650000	0.86243	AAC		0.632	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		65	188	1	0	9.68594e-22	0.00361	1.6751e-21	65	188				
PCDHB16	57717	broad.mit.edu	37	5	140567037	140567037	+	IGR	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140567037G>C	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCAATCTGGCAAAGGATCT	0.502																																							uc003liw.1		NA																	0					0						c.(145-147)GCA>CCA		protocadherin beta 9 precursor							43.0	46.0	45.0					5																	140567037		2105	4227	6332	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567037G>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567037G>C							p.A49P	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	145	+			49			Extracellular (Potential).|Cadherin 1.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.145G>C	CCDS4251.1																																																																																				0.502	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		31	63	0	0	0	0.00874	0	31	63				
PCDHGA2	56113	broad.mit.edu	37	5	140720462	140720462	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140720462C>A	ENST00000394576.2	+	1	1924	c.1924C>A	c.(1924-1926)Ctc>Atc	p.L642I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	642	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.L642I(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCAGAGCCTCGTGGTGGC	0.701																																							uc003ljk.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1924-1926)CTC>ATC		protocadherin gamma subfamily A, 2 isoform 1							53.0	62.0	59.0					5																	140720462		2201	4298	6499	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720462C>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1924C>A	5.37:g.140720462C>A	ENSP00000378077:p.Leu642Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.L642I	p.L642I	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2109	+			642			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1924C>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.035301	0.75617	.	.	ENSG00000081853	ENST00000394576	T	0.69040	-0.37	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.34223	U	0.004160	T	0.82089	0.4961	M	0.83483	2.645	0.30789	N	0.74112	P;D	0.76494	0.843;0.999	P;D	0.74674	0.668;0.984	T	0.82985	-0.0185	10	0.87932	D	0	.	14.2968	0.66318	0.0:0.8512:0.1488:0.0	.	642;642	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	I	642	ENSP00000378077:L642I	ENSP00000378077:L642I	L	+	1	0	PCDHGA2	140700646	0.079000	0.21365	1.000000	0.80357	0.792000	0.44763	0.718000	0.25866	2.589000	0.87451	0.485000	0.47835	CTC		0.701	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		52	110	1	0	1.66251e-12	0.00361	2.36124e-12	52	110				
PCDHGB4	8641	broad.mit.edu	37	5	140769345	140769345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140769345G>T	ENST00000519479.1	+	1	1894	c.1894G>T	c.(1894-1896)Gac>Tac	p.D632Y	PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTTAGGCGACAGGGACGC	0.697																																							uc003lkc.1		NA																	0					0						c.(1894-1896)GAC>TAC		protocadherin gamma subfamily B, 4 isoform 1							38.0	42.0	41.0					5																	140769345		2117	4225	6342	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769345G>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1894G>T	5.37:g.140769345G>T	ENSP00000428288:p.Asp632Tyr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.D632Y	p.D632Y	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1894	+			632			Extracellular (Potential).|Cadherin 6.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1894G>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	17.85	3.489987	0.64074	.	.	ENSG00000253953	ENST00000519479	T	0.46819	0.86	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59224	0.2178	L	0.31294	0.92	0.43761	D	0.996273	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.63743	-0.6568	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	632;632	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	Y	632	ENSP00000428288:D632Y	ENSP00000428288:D632Y	D	+	1	0	PCDHGB4	140749529	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	7.402000	0.79972	2.503000	0.84419	0.563000	0.77884	GAC		0.697	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		25	50	1	0	1.64293e-13	0.00333	2.37942e-13	25	50				
ARAP3	64411	broad.mit.edu	37	5	141050083	141050083	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:141050083C>A	ENST00000239440.4	-	14	2168	c.2103G>T	c.(2101-2103)cgG>cgT	p.R701R	ARAP3_ENST00000513878.1_Silent_p.R363R|ARAP3_ENST00000508305.1_Silent_p.R603R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	701					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTCACCATCCCGGCCCCTGC	0.602																																							uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(2101-2103)CGG>CGT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							68.0	70.0	70.0					5																	141050083		2203	4300	6503	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141050083C>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2103G>T	5.37:g.141050083C>A						ARAP3_uc011dbe.1_Silent_p.R363R|ARAP3_uc003lln.2_Silent_p.R603R	p.R701R	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			14	2181	-			701					B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.2103G>T	CCDS4266.1																																																																																				0.602	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		42	121	1	0	2.64894e-19	0.00361	4.39994e-19	42	121				
GABRA6	2559	broad.mit.edu	37	5	161128508	161128508	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:161128508C>A	ENST00000274545.5	+	9	1524	c.1091C>A	c.(1090-1092)cCt>cAt	p.P364H	GABRA6_ENST00000523217.1_Missense_Mutation_p.P354H			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	364					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCACAGCATCCTGACTCCAAA	0.358										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1090-1092)CCT>CAT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						96.0	101.0	99.0					5																	161128508		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128508C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1091C>A	5.37:g.161128508C>A	ENSP00000274545:p.Pro364His	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.P135H	p.P364H	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1429	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	364			Cytoplasmic (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1091C>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565828	0.45694	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.601181	0.17162	N	0.184656	T	0.81973	0.4936	N	0.20685	0.6	0.25379	N	0.988639	B	0.23650	0.089	B	0.42495	0.389	T	0.74685	-0.3582	10	0.44086	T	0.13	.	19.013	0.92881	0.0:1.0:0.0:0.0	.	364	Q16445	GBRA6_HUMAN	H	364;354	ENSP00000274545:P364H;ENSP00000430527:P354H	ENSP00000274545:P364H	P	+	2	0	GABRA6	161061086	1.000000	0.71417	0.947000	0.38551	0.979000	0.70002	3.951000	0.56684	2.571000	0.86741	0.655000	0.94253	CCT		0.358	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			30	93	1	0	2.81731e-10	0.010818	3.7995e-10	30	93				
BRD2	6046	broad.mit.edu	37	6	32943871	32943871	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:32943871T>G	ENST00000374825.4	+	5	2236	c.535T>G	c.(535-537)Tca>Gca	p.S179A	BRD2_ENST00000395287.1_Missense_Mutation_p.S179A|BRD2_ENST00000449085.2_Missense_Mutation_p.S132A|BRD2_ENST00000395289.2_Missense_Mutation_p.S179A|BRD2_ENST00000374831.4_Missense_Mutation_p.S179A|BRD2_ENST00000443797.2_Missense_Mutation_p.S59A	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	179					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						GAAGGTTGCATCAATGCCACA	0.438																																							uc003ocn.3		NA																	0				central_nervous_system(3)|stomach(2)	5						c.(535-537)TCA>GCA		bromodomain containing 2							89.0	82.0	85.0					6																	32943871		1511	2709	4220	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32943871T>G	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.535T>G	6.37:g.32943871T>G	ENSP00000363958:p.Ser179Ala					BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.S179A|BRD2_uc003ocp.3_Missense_Mutation_p.S59A|BRD2_uc010juh.2_Missense_Mutation_p.S179A	p.S179A	NM_005104	NP_005095	P25440	BRD2_HUMAN			5	2236	+			179					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.535T>G	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.11|15.11	2.736820|2.736820	0.49045|0.49045	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000456339;ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.18338	.|2.22;2.22;2.22;2.22;2.22;2.22	5.74|5.74	4.44|4.44	0.53790|0.53790	.|Bromodomain (3);	.|0.208574	.|0.25035	.|N	.|0.033659	T|T	0.02767|0.02767	0.0083|0.0083	N|N	0.08118|0.08118	0|0	0.29456|0.29456	N|N	0.858089|0.858089	.|B;B	.|0.12630	.|0.006;0.006	.|B;B	.|0.19946	.|0.027;0.027	T|T	0.31420|0.31420	-0.9944|-0.9944	5|10	.|0.44086	.|T	.|0.13	-14.0557|-14.0557	5.0305|5.0305	0.14407|0.14407	0.0:0.2145:0.0:0.7855|0.0:0.2145:0.0:0.7855	.|.	.|179;179	.|A2AAU0;P25440	.|.;BRD2_HUMAN	Q|A	180;184|179;179;179;59;179;132	.|ENSP00000363958:S179A;ENSP00000363964:S179A;ENSP00000378704:S179A;ENSP00000413495:S59A;ENSP00000378702:S179A;ENSP00000409145:S132A	.|ENSP00000363958:S179A	H|S	+|+	3|1	2|0	BRD2|BRD2	33051849|33051849	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.976000|0.976000	0.68499|0.68499	3.291000|3.291000	0.51764|0.51764	2.317000|2.317000	0.78254|0.78254	0.523000|0.523000	0.50628|0.50628	CAT|TCA		0.438	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			20	43	0	0	0	0.007413	0	20	43				
PIM1	5292	broad.mit.edu	37	6	37138393	37138393	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:37138393C>T	ENST00000373509.5	+	1	415	c.42C>T	c.(40-42)gcC>gcT	p.A14A		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	105					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACCTGCGCGCCGCGCCCTGCA	0.721			T	BCL6	NHL																																		uc003onk.2		NA		Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				large_intestine(1)|central_nervous_system(1)	2						c.(40-42)GCC>GCT		non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)						27.0	28.0	28.0					6																	37138393		2201	4297	6498	SO:0001819	synonymous_variant	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37138393C>T		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.42C>T	6.37:g.37138393C>T						PIM1_uc011dtw.1_5'Flank	p.A14A	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		1	472	+			105					Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	c.42C>T	CCDS4830.1																																																																																				0.721	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			7	36	0	0	0	0.001984	0	7	36				
PHF3	23469	broad.mit.edu	37	6	64394074	64394074	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:64394074A>G	ENST00000262043.3	+	4	791	c.451A>G	c.(451-453)Aat>Gat	p.N151D	PHF3_ENST00000393387.1_Missense_Mutation_p.N151D|PHF3_ENST00000509330.1_Missense_Mutation_p.N151D			Q92576	PHF3_HUMAN	PHD finger protein 3	151					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAAGCGTTCAAATGCAGCACC	0.373																																					GBM(135;136 1820 29512 34071 46235)	GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(451-453)AAT>GAT		PHD finger protein 3							140.0	151.0	147.0					6																	64394074		2203	4299	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394074A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.451A>G	6.37:g.64394074A>G	ENSP00000262043:p.Asn151Asp					PHF3_uc010kaf.1_Missense_Mutation_p.N151D|PHF3_uc003pem.2_Missense_Mutation_p.N104D|PHF3_uc010kag.1_Missense_Mutation_p.N63D|PHF3_uc010kah.1_5'UTR|PHF3_uc003pen.2_Missense_Mutation_p.N63D|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.N151D	p.N151D	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	477	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		151					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.451A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.856975	0.32791	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.56275	1.37;1.85;1.43;0.47;1.85	5.92	5.92	0.95590	.	0.404916	0.18452	N	0.140815	T	0.52468	0.1736	M	0.62723	1.935	0.37040	D	0.897106	P;P	0.51791	0.856;0.948	B;P	0.50192	0.193;0.634	T	0.60727	-0.7206	10	0.72032	D	0.01	-26.1338	16.3604	0.83263	1.0:0.0:0.0:0.0	.	151;151	Q92576;D6R9X2	PHF3_HUMAN;.	D	63;151;104;151;151;81	ENSP00000425227:N63D;ENSP00000262043:N151D;ENSP00000424078:N104D;ENSP00000422841:N151D;ENSP00000377048:N151D	ENSP00000262043:N151D	N	+	1	0	PHF3	64452033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.355000	0.73041	2.260000	0.74910	0.528000	0.53228	AAT		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			48	117	0	0	0	0.00361	0	48	117				
BAI3	577	broad.mit.edu	37	6	70070841	70070841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:70070841G>T	ENST00000370598.1	+	29	4497	c.3676G>T	c.(3676-3678)Gaa>Taa	p.E1226*	BAI3_ENST00000546190.1_Nonsense_Mutation_p.E190*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.E432*	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1226					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)			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)				TGATGATGAAGAAGAAAAGGG	0.423																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3676-3678)GAA>TAA		brain-specific angiogenesis inhibitor 3							90.0	86.0	87.0					6																	70070841		2203	4299	6502	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70070841G>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.3676G>T	6.37:g.70070841G>T	ENSP00000359630:p.Glu1226*					BAI3_uc010kak.2_Nonsense_Mutation_p.E1226*|BAI3_uc011dxx.1_Nonsense_Mutation_p.E432*	p.E1226*	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4124	+		all_lung(197;0.212)	1226			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.3676G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884364	0.97062	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	.	.	.	5.61	5.61	0.85477	.	0.101120	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	19.6357	0.95731	0.0:0.0:1.0:0.0	.	.	.	.	X	1226;432;190	.	ENSP00000238918:E432X	E	+	1	0	BAI3	70127562	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.209000	0.95087	2.632000	0.89209	0.591000	0.81541	GAA		0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			16	40	1	0	4.7546e-09	0.004007	5.99937e-09	16	40				
COL19A1	1310	broad.mit.edu	37	6	70831782	70831782	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:70831782G>T	ENST00000322773.4	+	17	1391	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G52V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	430	Collagen-like 3.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCTCCTGGAATACAAGGA	0.269																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(1288-1290)GGA>GTA		alpha 1 type XIX collagen precursor							65.0	72.0	70.0					6																	70831782		2200	4274	6474	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70831782G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1289G>T	6.37:g.70831782G>T	ENSP00000316030:p.Gly430Val					COL19A1_uc010kam.1_Missense_Mutation_p.G326V	p.G430V	NM_001858	NP_001849	Q14993	COJA1_HUMAN			17	1406	+			430					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1289G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758158	0.31137	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	D;D;T	0.99637	-6.29;-6.29;1.32	5.32	5.32	0.75619	.	0.148384	0.45126	D	0.000390	D	0.99771	0.9906	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97484	1.0049	10	0.87932	D	0	.	16.6924	0.85325	0.0:0.0:1.0:0.0	.	430	Q14993	COJA1_HUMAN	V	430;52;4	ENSP00000316030:G430V;ENSP00000377013:G52V;ENSP00000416556:G4V	ENSP00000316030:G430V	G	+	2	0	COL19A1	70888503	1.000000	0.71417	0.893000	0.35052	0.902000	0.53008	4.930000	0.63462	2.941000	0.99782	0.655000	0.94253	GGA		0.269	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			19	53	1	0	3.8784e-16	0.012319	5.9699e-16	19	53				
DOPEY1	23033	broad.mit.edu	37	6	83823102	83823102	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:83823102G>A	ENST00000349129.2	+	7	1002	c.742G>A	c.(742-744)Gac>Aac	p.D248N	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D248N|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D248N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	248					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCACACTGGACCTCATACT	0.373																																							uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(742-744)GAC>AAC		dopey family member 1							170.0	148.0	155.0					6																	83823102		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83823102G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.742G>A	6.37:g.83823102G>A	ENSP00000195654:p.Asp248Asn					DOPEY1_uc011dyy.1_Missense_Mutation_p.D248N|DOPEY1_uc010kbl.1_Missense_Mutation_p.D248N	p.D248N	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	7	1002	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	248					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.742G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	36	5.855842	0.97030	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.57273	0.47;0.45;0.41	5.95	5.95	0.96441	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	M	0.74467	2.265	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.70342	-0.4898	10	0.59425	D	0.04	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	248;248	B2RWN9;Q5JWR5	.;DOP1_HUMAN	N	248	ENSP00000195654:D248N;ENSP00000237163:D248N;ENSP00000358754:D248N	ENSP00000237163:D248N	D	+	1	0	DOPEY1	83879821	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.735000	0.98825	2.825000	0.97269	0.655000	0.94253	GAC		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		17	56	0	0	0	0.010504	0	17	56				
EPHA7	2045	broad.mit.edu	37	6	94066441	94066441	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:94066441G>T	ENST00000369303.4	-	5	1502	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	440	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATACCTGCTTGACCAGTGGTG	0.408																																							uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(1318-1320)CAA>AAA		ephrin receptor EphA7 precursor							91.0	93.0	93.0					6																	94066441		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066441G>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1318C>A	6.37:g.94066441G>T	ENSP00000358309:p.Gln440Lys					EPHA7_uc003pof.2_Missense_Mutation_p.Q440K|EPHA7_uc011eac.1_Missense_Mutation_p.Q440K	p.Q440K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1559	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	440			Extracellular (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1318C>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896198	0.72639	.	.	ENSG00000135333	ENST00000369303	T	0.54479	0.57	5.85	5.85	0.93711	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	H	0.95437	3.67	0.80722	D	1	P;P;P	0.43578	0.811;0.733;0.615	P;B;B	0.57846	0.828;0.231;0.116	T	0.82200	-0.0575	10	0.72032	D	0.01	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	440;440;440	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	440	ENSP00000358309:Q440K	ENSP00000358309:Q440K	Q	-	1	0	EPHA7	94123162	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.835000	0.99442	2.772000	0.95346	0.650000	0.86243	CAA		0.408	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			23	52	1	0	3.01185e-09	0.003954	3.84993e-09	23	52				
SMPD2	6610	broad.mit.edu	37	6	109762562	109762562	+	Missense_Mutation	SNP	G	G	A	rs138354272		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:109762562G>A	ENST00000258052.3	+	2	412	c.53G>A	c.(52-54)gGc>gAc	p.G18D	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	18					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TTCCTTAGGGGCATTCCGTAC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16332	0.0		0.0	False		,,,				2504	0.0						uc003pti.2		NA																	0					0						c.(52-54)GGC>GAC		sphingomyelin phosphodiesterase 2, neutral		G	ASP/GLY	0,4406		0,0,2203	48.0	55.0	52.0		53	-2.5	1.0	6	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense	SMPD2	NM_003080.2	94	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	18/424	109762562	1,13005	2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109762562G>A	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.53G>A	6.37:g.109762562G>A	ENSP00000258052:p.Gly18Asp					PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank|SMPD2_uc010kdq.2_Missense_Mutation_p.G18D	p.G18D	NM_003080	NP_003071	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	2	447	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	18					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.53G>A	CCDS5075.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.54	3.416240	0.62511	0.0	1.16E-4	ENSG00000135587	ENST00000258052	D	0.83250	-1.7	5.76	-2.45	0.06481	Endonuclease/exonuclease/phosphatase (2);	0.516273	0.22789	N	0.055631	T	0.80232	0.4585	M	0.88310	2.945	0.34338	D	0.688399	P;B	0.46512	0.879;0.006	P;B	0.51079	0.658;0.01	T	0.76825	-0.2816	10	0.49607	T	0.09	-2.9257	6.5836	0.22609	0.3471:0.4428:0.2101:0.0	.	18;18	B2R8U8;O60906	.;NSMA_HUMAN	D	18	ENSP00000258052:G18D	ENSP00000258052:G18D	G	+	2	0	SMPD2	109869255	0.010000	0.17322	0.967000	0.41034	0.757000	0.42996	-0.272000	0.08560	-0.426000	0.07360	0.655000	0.94253	GGC		0.627	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			3	51	0	0	0	0.004672	0	3	51				
RFX6	222546	broad.mit.edu	37	6	117198593	117198593	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:117198593A>T	ENST00000332958.2	+	1	171	c.155A>T	c.(154-156)cAg>cTg	p.Q52L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	52					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCGAAGGGCAGCCCGGGGGC	0.657																																							uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(154-156)CAG>CTG		regulatory factor X, 6							12.0	15.0	14.0					6																	117198593		2185	4289	6474	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117198593A>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.155A>T	6.37:g.117198593A>T	ENSP00000332208:p.Gln52Leu						p.Q52L	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			1	218	+			52					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.155A>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995745	0.35226	.	.	ENSG00000185002	ENST00000332958	T	0.56941	0.43	4.68	2.22	0.28083	.	2.305560	0.02034	N	0.048756	T	0.13114	0.0318	N	0.14661	0.345	0.09310	N	1	B	0.30482	0.281	B	0.21360	0.034	T	0.07829	-1.0752	10	0.28530	T	0.3	-0.0853	4.51	0.11906	0.6993:0.1984:0.1023:0.0	.	52	Q8HWS3	RFX6_HUMAN	L	52	ENSP00000332208:Q52L	ENSP00000332208:Q52L	Q	+	2	0	RFX6	117305286	0.624000	0.27102	0.129000	0.21949	0.007000	0.05969	2.296000	0.43584	0.290000	0.22444	0.482000	0.46254	CAG		0.657	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		3	9	0	0	0	0.009096	0	3	9				
THEMIS	387357	broad.mit.edu	37	6	128134635	128134635	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:128134635G>T	ENST00000368248.2	-	4	1299	c.1151C>A	c.(1150-1152)tCt>tAt	p.S384Y	THEMIS_ENST00000537166.1_Missense_Mutation_p.S349Y|THEMIS_ENST00000368250.1_Missense_Mutation_p.S305Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.S384Y	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	384	CABIT 2.				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)				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						GTCCCCAACAGATACGGATGA	0.488																																							uc003qbi.2		NA																	0				ovary(2)|skin(2)	4						c.(1150-1152)TCT>TAT		thymocyte selection pathway associated isoform							93.0	94.0	94.0					6																	128134635		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134635G>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.1151C>A	6.37:g.128134635G>T	ENSP00000357231:p.Ser384Tyr					THEMIS_uc010kfa.2_Missense_Mutation_p.S287Y|THEMIS_uc011ebt.1_Missense_Mutation_p.S384Y|THEMIS_uc010kfb.2_Missense_Mutation_p.S349Y	p.S384Y	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1470	-			384			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1151C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	7.649	0.682576	0.14907	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.69	3.91	0.45181	.	0.291759	0.36066	N	0.002806	T	0.19565	0.0470	M	0.73598	2.24	0.26596	N	0.973103	D;P	0.65815	0.995;0.89	P;P	0.56916	0.809;0.642	T	0.05954	-1.0854	10	0.66056	D	0.02	-8.9501	10.0261	0.42072	0.0686:0.2596:0.6718:0.0	.	384;384	F5H1J9;Q8N1K5	.;THMS1_HUMAN	Y	305;384;384;349	ENSP00000357233:S305Y;ENSP00000439594:S384Y;ENSP00000357231:S384Y;ENSP00000439863:S349Y	ENSP00000357231:S384Y	S	-	2	0	THEMIS	128176328	1.000000	0.71417	0.027000	0.17364	0.006000	0.05464	3.078000	0.50096	0.759000	0.33084	-0.251000	0.11542	TCT		0.488	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		34	77	1	0	3.11337e-16	0.002836	4.84303e-16	34	77				
INTS1	26173	broad.mit.edu	37	7	1538656	1538656	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:1538656C>A	ENST00000404767.3	-	8	1177	c.1092G>T	c.(1090-1092)cgG>cgT	p.R364R	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Silent_p.R492R	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	364					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCGCCAGCAGCCGCACCTCCT	0.701																																							uc003skn.2		NA																	0					0						c.(1090-1092)CGG>CGT		integrator complex subunit 1							12.0	14.0	13.0					7																	1538656		1925	4112	6037	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538656C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1092G>T	7.37:g.1538656C>A						INTS1_uc003skq.2_Silent_p.R364R	p.R364R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	8	1193	-		Ovarian(82;0.0253)	364					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.1092G>T	CCDS47526.1																																																																																				0.701	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			6	4	1	0	3.59834e-05	0.001168	3.96221e-05	6	4				
BBS9	27241	broad.mit.edu	37	7	33313545	33313545	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:33313545A>T	ENST00000242067.6	+	9	1514	c.993A>T	c.(991-993)gtA>gtT	p.V331V	BBS9_ENST00000425508.2_Silent_p.V286V|BBS9_ENST00000396127.2_Silent_p.V331V|BBS9_ENST00000354265.4_Silent_p.V331V|BBS9_ENST00000355070.2_Silent_p.V331V|BBS9_ENST00000350941.3_Silent_p.V331V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	331					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ACATTCCTGTAGCAGTAAGAG	0.343									Bardet-Biedl syndrome																														uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(991-993)GTA>GTT		parathyroid hormone-responsive B1 isoform 2							77.0	73.0	75.0					7																	33313545		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33313545A>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.993A>T	7.37:g.33313545A>T						BBS9_uc003tdo.1_Silent_p.V331V|BBS9_uc003tdp.1_Silent_p.V331V|BBS9_uc003tdq.1_Silent_p.V331V|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.V331V|BBS9_uc011kao.1_Silent_p.V209V	p.V331V	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		9	1506	+			331					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.993A>T	CCDS43566.1																																																																																				0.343	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			12	40	0	0	0	0.001855	0	12	40				
WBSCR17	64409	broad.mit.edu	37	7	71175827	71175827	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:71175827G>T	ENST00000333538.5	+	10	2216	c.1582G>T	c.(1582-1584)Gtg>Ttg	p.V528L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	528	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGCTGCCTGGTGGACAACTC	0.607																																							uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1582-1584)GTG>TTG		UDP-GalNAc:polypeptide							72.0	67.0	69.0					7																	71175827		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71175827G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1582G>T	7.37:g.71175827G>T	ENSP00000329654:p.Val528Leu					WBSCR17_uc003tvz.2_Missense_Mutation_p.V227L	p.V528L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			10	1582	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	528			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1582G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589954	0.86851	.	.	ENSG00000185274	ENST00000333538	T	0.29397	1.57	5.28	5.28	0.74379	Ricin B-related lectin (1);Ricin B lectin (3);	0.060961	0.64402	D	0.000003	T	0.50360	0.1611	M	0.78801	2.425	0.49798	D	0.999824	P	0.50443	0.935	P	0.53760	0.734	T	0.48658	-0.9016	10	0.42905	T	0.14	.	17.6589	0.88185	0.0:0.0:1.0:0.0	.	528	Q6IS24	GLTL3_HUMAN	L	528	ENSP00000329654:V528L	ENSP00000329654:V528L	V	+	1	0	WBSCR17	70813763	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.701000	0.68325	2.746000	0.94184	0.655000	0.94253	GTG		0.607	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		19	66	1	0	1.56452e-12	0.007413	2.23286e-12	19	66				
RHBDD2	57414	broad.mit.edu	37	7	75511505	75511505	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:75511505C>T	ENST00000006777.6	+	2	672	c.537C>T	c.(535-537)ccC>ccT	p.P179P	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_Silent_p.P38P|RHBDD2_ENST00000428119.1_Silent_p.P38P	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	179						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						GGCTCATTCCCCAGACCTCTT	0.592																																							uc003udw.1		NA																	0					0						c.(535-537)CCC>CCT		rhomboid domain containing 2 isoform a							44.0	45.0	45.0					7																	75511505		2083	4216	6299	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511505C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.537C>T	7.37:g.75511505C>T						RHBDD2_uc003udv.1_Silent_p.P38P	p.P179P	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN			2	621	+			179					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.537C>T	CCDS43602.1																																																																																				0.592	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		7	32	0	0	0	0.00308	0	7	32				
STEAP4	79689	broad.mit.edu	37	7	87912286	87912286	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:87912286A>G	ENST00000380079.4	-	3	755	c.654T>C	c.(652-654)tgT>tgC	p.C218C	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Silent_p.C218C|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	218					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTCTTATAACACAATAGAAAA	0.373																																							uc003ujs.2		NA																	0					0						c.(652-654)TGT>TGC		tumor necrosis factor, alpha-induced protein 9							84.0	81.0	82.0					7																	87912286		1883	4105	5988	SO:0001819	synonymous_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912286A>G	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.654T>C	7.37:g.87912286A>G						STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Silent_p.C218C	p.C218C	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			3	759	-	Esophageal squamous(14;0.00802)		218					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Silent	SNP	ENST00000380079.4	37	c.654T>C	CCDS43611.1																																																																																				0.373	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		28	52	0	0	0	0.005443	0	28	52				
GTPBP10	85865	broad.mit.edu	37	7	89984398	89984398	+	Splice_Site	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:89984398A>T	ENST00000222511.6	+	4	385		c.e4-1		GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)						ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CCTCTTTTTAAGGAGAACTCA	0.318																																							uc003ukm.1		NA																	0					0						c.e4-2		GTP-binding protein 10 isoform 2							71.0	75.0	74.0					7																	89984398		2203	4298	6501	SO:0001630	splice_region_variant	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89984398A>T		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.320-1A>T	7.37:g.89984398A>T						GTPBP10_uc003uki.1_Splice_Site_p.G124_splice|GTPBP10_uc003ukj.1_Splice_Site_p.G98_splice|GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_Splice_Site|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron	p.G107_splice	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN			4	386	+								B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Splice_Site	SNP	ENST00000222511.6	37	c.320_splice	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018898	0.75275	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.91	0.79467	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTPBP10	89822334	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	8.311000	0.89973	2.141000	0.66446	0.533000	0.62120	.		0.318	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107	Intron	21	44	0	0	0	0.012319	0	21	44				
CALCR	799	broad.mit.edu	37	7	93116272	93116272	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:93116272G>A	ENST00000394441.1	-	2	337	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	CALCR_ENST00000359558.2_Missense_Mutation_p.R26W|MIR489_ENST00000384923.1_RNA|CALCR_ENST00000421592.1_Missense_Mutation_p.R8W|CALCR_ENST00000426151.1_Missense_Mutation_p.R8W|CALCR_ENST00000360249.4_Missense_Mutation_p.R8W	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	26					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCCAAGCACCGGCTTGTAAAT	0.313																																							uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(76-78)CGG>TGG		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						108.0	116.0	113.0					7																	93116272		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93116272G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.22C>T	7.37:g.93116272G>A	ENSP00000377959:p.Arg8Trp					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R8W|CALCR_uc003umw.2_Missense_Mutation_p.R8W|MIR489_hsa-mir-489|MI0003124_5'Flank	p.R26W	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		3	337	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		8					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.76C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	8.521	0.868664	0.17322	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.51574	0.7;0.73;0.73;0.83;0.83	3.93	-1.87	0.07737	.	.	.	.	.	T	0.26011	0.0634	N	0.16368	0.405	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.0	T	0.16217	-1.0410	9	0.49607	T	0.09	.	4.1557	0.10260	0.2879:0.0:0.5489:0.1632	.	26;8	F5H605;A4D1G6	.;.	W	26;8;8;8;8;8	ENSP00000352561:R26W;ENSP00000353385:R8W;ENSP00000399552:R8W;ENSP00000377959:R8W;ENSP00000389295:R8W	ENSP00000352561:R26W	R	-	1	2	CALCR	92954208	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.057000	0.14279	-0.363000	0.08101	0.655000	0.94253	CGG		0.313	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		32	84	0	0	0	0.003271	0	32	84				
MUC17	140453	broad.mit.edu	37	7	100677722	100677722	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:100677722G>T	ENST00000306151.4	+	3	3089	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1009	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGACTCCAACAC	0.522																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3025-3027)GAC>TAC		mucin 17 precursor							411.0	340.0	364.0					7																	100677722		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677722G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3025G>T	7.37:g.100677722G>T	ENSP00000302716:p.Asp1009Tyr					MUC17_uc010lho.1_RNA	p.D1009Y	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3078	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1009			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3025G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.198	-1.047117	0.01997	.	.	ENSG00000169876	ENST00000306151	T	0.03094	4.05	0.74	-0.568	0.11760	.	.	.	.	.	T	0.02012	0.0063	N	0.19112	0.55	0.09310	N	1	P	0.50156	0.932	B	0.37989	0.262	T	0.44065	-0.9352	9	0.45353	T	0.12	.	2.305	0.04172	0.2643:0.34:0.3957:0.0	.	1009	Q685J3	MUC17_HUMAN	Y	1009	ENSP00000302716:D1009Y	ENSP00000302716:D1009Y	D	+	1	0	MUC17	100464442	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.078000	0.14761	-0.162000	0.10964	0.134000	0.15878	GAC		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		49	792	1	0	1.41219e-46	0.00361	2.59489e-46	49	792				
MUC17	140453	broad.mit.edu	37	7	100680018	100680018	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:100680018T>C	ENST00000306151.4	+	3	5385	c.5321T>C	c.(5320-5322)aTt>aCt	p.I1774T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1774	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAACTCCTATTGACACCAGC	0.498																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(5320-5322)ATT>ACT		mucin 17 precursor							277.0	289.0	285.0					7																	100680018		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680018T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5321T>C	7.37:g.100680018T>C	ENSP00000302716:p.Ile1774Thr					MUC17_uc010lho.1_RNA	p.I1774T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	5374	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1774			Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5321T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	0.236	-1.017153	0.02078	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47497	-0.9113	9	0.16896	T	0.51	.	0.1749	0.00117	0.2502:0.2629:0.2498:0.2371	.	1774	Q685J3	MUC17_HUMAN	T	1774	ENSP00000302716:I1774T	ENSP00000302716:I1774T	I	+	2	0	MUC17	100466738	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.205000	0.00559	-1.590000	0.01623	0.113000	0.15668	ATT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		155	382	0	0	0	0.00361	0	155	382				
LAMB4	22798	broad.mit.edu	37	7	107752264	107752264	+	Missense_Mutation	SNP	G	G	T	rs576824303		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:107752264G>T	ENST00000388781.3	-	4	403	c.320C>A	c.(319-321)tCt>tAt	p.S107Y	LAMB4_ENST00000388780.3_Missense_Mutation_p.S107Y|LAMB4_ENST00000418464.1_Missense_Mutation_p.S107Y|LAMB4_ENST00000414450.2_Missense_Mutation_p.S107Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.S107Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	107	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACCATTTTCAGATTGCCACCA	0.343													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15243	0.0		0.0	False		,,,				2504	0.0						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(319-321)TCT>TAT		laminin, beta 4 precursor							164.0	155.0	158.0					7																	107752264		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107752264G>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.320C>A	7.37:g.107752264G>T	ENSP00000373433:p.Ser107Tyr					LAMB4_uc003vey.2_Missense_Mutation_p.S107Y	p.S107Y	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			4	404	-			107			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.320C>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582412	0.65992	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	D;D;D;T;T	0.83755	-1.76;-1.76;-1.76;-1.14;-1.14	5.35	5.35	0.76521	Laminin, N-terminal (3);	0.423562	0.20095	N	0.099348	D	0.93488	0.7922	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.94193	0.7443	10	0.87932	D	0	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	107	A4D0S4	LAMB4_HUMAN	Y	107	ENSP00000205386:S107Y;ENSP00000373433:S107Y;ENSP00000373432:S107Y;ENSP00000402353:S107Y;ENSP00000402265:S107Y	ENSP00000205386:S107Y	S	-	2	0	LAMB4	107539500	1.000000	0.71417	0.978000	0.43139	0.356000	0.29392	7.293000	0.78740	2.941000	0.99782	0.655000	0.94253	TCT		0.343	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		23	71	1	0	1.10923e-09	0.00278	1.4494e-09	23	71				
SPAM1	6677	broad.mit.edu	37	7	123593796	123593796	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:123593796G>A	ENST00000439500.1	+	4	785	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SPAM1_ENST00000460182.1_Missense_Mutation_p.E58K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E58K|SPAM1_ENST00000340011.5_Missense_Mutation_p.E58K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E58K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	58					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCCCAAGTGAATTTTGTCT	0.448																																							uc003vld.2		NA																	0				ovary(3)|kidney(1)	4						c.(172-174)GAA>AAA		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						45.0	43.0	44.0					7																	123593796		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123593796G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.172G>A	7.37:g.123593796G>A	ENSP00000402123:p.Glu58Lys					SPAM1_uc003vle.2_Missense_Mutation_p.E58K|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.E58K|SPAM1_uc010lku.2_Missense_Mutation_p.E58K	p.E58K	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	574	+			58					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.172G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998017	0.74818	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	6.03	4.26	0.50523	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.330721	0.33813	N	0.004527	T	0.54303	0.1850	M	0.88775	2.98	0.34520	D	0.708102	D;D	0.63046	0.992;0.992	D;D	0.66716	0.946;0.946	T	0.72134	-0.4382	10	0.72032	D	0.01	-38.0882	12.2984	0.54860	0.1357:0.0:0.8643:0.0	.	58;58	Q8TC30;P38567	.;HYALP_HUMAN	K	58	ENSP00000386028:E58K;ENSP00000391491:E58K;ENSP00000417934:E58K;ENSP00000345849:E58K;ENSP00000402123:E58K;ENSP00000223028:E58K	ENSP00000223028:E58K	E	+	1	0	SPAM1	123381032	1.000000	0.71417	0.036000	0.18154	0.058000	0.15608	3.411000	0.52672	0.902000	0.36520	-0.119000	0.15052	GAA		0.448	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			8	30	0	0	0	0.00308	0	8	30				
SND1	27044	broad.mit.edu	37	7	127343309	127343309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:127343309C>T	ENST00000354725.3	+	7	966	c.772C>T	c.(772-774)Cag>Tag	p.Q258*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	258	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCGACTGCTTCAGAGAGATGT	0.493																																							uc003vmi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(772-774)CAG>TAG		staphylococcal nuclease domain containing 1							97.0	87.0	90.0					7																	127343309		2203	4300	6503	SO:0001587	stop_gained	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127343309C>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.772C>T	7.37:g.127343309C>T	ENSP00000346762:p.Gln258*						p.Q258*	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			7	998	+			258			TNase-like 2.		Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	c.772C>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	36	5.898599	0.97081	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	.	.	.	6.07	6.07	0.98685	.	0.053414	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.4809	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	X	258;248	.	ENSP00000346762:Q258X	Q	+	1	0	SND1	127130545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.597000	0.82733	2.885000	0.99019	0.655000	0.94253	CAG		0.493	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		22	47	0	0	0	0.00278	0	22	47				
CNTNAP2	26047	broad.mit.edu	37	7	146829511	146829511	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:146829511G>T	ENST00000361727.3	+	8	1774	c.1258G>T	c.(1258-1260)Ggc>Tgc	p.G420C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	420	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGATAATTTGGGCAATGTGGA	0.478										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1258-1260)GGC>TGC		cell recognition molecule Caspr2 precursor							124.0	109.0	114.0					7																	146829511		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829511G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1258G>T	7.37:g.146829511G>T	ENSP00000354778:p.Gly420Cys	HNSCC(39;0.1)					p.G420C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1774	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	420			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1258G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584331	0.86748	.	.	ENSG00000174469	ENST00000361727	T	0.78481	-1.18	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000008	D	0.89336	0.6686	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90293	0.4324	10	0.87932	D	0	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	420	Q9UHC6	CNTP2_HUMAN	C	420	ENSP00000354778:G420C	ENSP00000354778:G420C	G	+	1	0	CNTNAP2	146460444	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	7.477000	0.81069	2.686000	0.91538	0.591000	0.81541	GGC		0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			13	46	1	0	7.03913e-09	0.001368	8.76908e-09	13	46				
SGCZ	137868	broad.mit.edu	37	8	14095116	14095116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:14095116C>A	ENST00000382080.1	-	4	1124	c.409G>T	c.(409-411)Gga>Tga	p.G137*	SGCZ_ENST00000421524.2_Nonsense_Mutation_p.G90*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	124					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.G137R(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCAGCTGTCCGGTTAACTGC	0.403																																							uc003wwq.2		NA																	1	Substitution - Missense(1)	p.G137R(1)	ovary(1)	ovary(2)|central_nervous_system(1)	3						c.(409-411)GGA>TGA		sarcoglycan zeta							363.0	348.0	353.0					8																	14095116		2203	4300	6503	SO:0001587	stop_gained	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14095116C>A	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.409G>T	8.37:g.14095116C>A	ENSP00000371512:p.Gly137*					SGCZ_uc010lss.2_Nonsense_Mutation_p.G90*	p.G137*	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	4	1069	-			124			Extracellular (Potential).		Q6REU0	Nonsense_Mutation	SNP	ENST00000382080.1	37	c.409G>T	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	c	44	11.052397	0.99508	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	.	.	.	5.39	5.39	0.77823	.	0.107851	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.5837	0.91181	0.0:1.0:0.0:0.0	.	.	.	.	X	137;90	.	ENSP00000371512:G137X	G	-	1	0	SGCZ	14139487	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	6.935000	0.75886	2.708000	0.92522	0.585000	0.79938	GGA		0.403	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		95	263	1	0	1.478e-36	0.00361	2.64959e-36	95	263				
CDCA2	157313	broad.mit.edu	37	8	25364831	25364831	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:25364831G>T	ENST00000330560.3	+	15	3126	c.2649G>T	c.(2647-2649)agG>agT	p.R883S	CDCA2_ENST00000380665.3_Missense_Mutation_p.R868S|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	883					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCTTTCAGAGGAGAAATAGTG	0.423																																							uc003xep.1		NA																	0					0						c.(2647-2649)AGG>AGT		cell division cycle associated 2							77.0	82.0	80.0					8																	25364831		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364831G>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2649G>T	8.37:g.25364831G>T	ENSP00000328228:p.Arg883Ser					PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R868S|CDCA2_uc003xer.1_Missense_Mutation_p.R546S	p.R883S	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	3128	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	883					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.2649G>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.024017	0.35701	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.42900	0.96;0.96	5.95	2.4	0.29515	.	0.068219	0.64402	D	0.000016	T	0.51449	0.1675	L	0.54323	1.7	0.23920	N	0.996468	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.36986	-0.9725	10	0.87932	D	0	-29.6775	3.6759	0.08291	0.5224:0.0:0.318:0.1596	.	868;883	E9PEI0;Q69YH5	.;CDCA2_HUMAN	S	883;868;282	ENSP00000328228:R883S;ENSP00000370040:R868S	ENSP00000328228:R883S	R	+	3	2	CDCA2	25420748	0.000000	0.05858	0.438000	0.26821	0.065000	0.16274	0.483000	0.22292	0.519000	0.28406	-0.312000	0.09012	AGG		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		27	75	1	0	1.2476e-16	0.00632	1.96147e-16	27	75				
TEX15	56154	broad.mit.edu	37	8	30705213	30705213	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:30705213A>T	ENST00000256246.2	-	1	1395	c.1321T>A	c.(1321-1323)Tat>Aat	p.Y441N	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	441					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTTCTTTATAGTCTCTCTGA	0.338																																							uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1321-1323)TAT>AAT		testis expressed 15							157.0	157.0	157.0					8																	30705213		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705213A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1321T>A	8.37:g.30705213A>T	ENSP00000256246:p.Tyr441Asn						p.Y441N	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1321	-			441						Missense_Mutation	SNP	ENST00000256246.2	37	c.1321T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	0.168	-1.074634	0.01903	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.23	-0.326	0.12698	.	1.074110	0.07196	N	0.856541	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40572	-0.9556	10	0.87932	D	0	.	5.249	0.15512	0.3937:0.1552:0.0:0.4511	.	441	Q9BXT5	TEX15_HUMAN	N	441	ENSP00000256246:Y441N	ENSP00000256246:Y441N	Y	-	1	0	TEX15	30824755	0.000000	0.05858	0.014000	0.15608	0.010000	0.07245	0.068000	0.14531	0.342000	0.23796	0.528000	0.53228	TAT		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			66	139	0	0	0	0.00361	0	66	139				
FUT10	84750	broad.mit.edu	37	8	33310750	33310750	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:33310750T>G	ENST00000327671.5	-	3	991	c.360A>C	c.(358-360)aaA>aaC	p.K120N	FUT10_ENST00000335589.3_Missense_Mutation_p.S46R|FUT10_ENST00000518672.1_Missense_Mutation_p.K92N|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.K92N	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	120					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.K120N(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGAATGCTTTGGTCATGT	0.507																																							uc003xje.2		NA																	1	Substitution - Missense(1)		liver(1)	ovary(1)|pancreas(1)	2						c.(358-360)AAA>AAC		fucosyltransferase 10							150.0	133.0	139.0					8																	33310750		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33310750T>G	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.360A>C	8.37:g.33310750T>G	ENSP00000332757:p.Lys120Asn					FUT10_uc003xjc.2_Missense_Mutation_p.K127N|FUT10_uc003xjd.2_Missense_Mutation_p.K92N|FUT10_uc011lbi.1_Missense_Mutation_p.K170N|FUT10_uc003xjf.2_Missense_Mutation_p.S46R|FUT10_uc003xjg.2_Missense_Mutation_p.K92N|FUT10_uc003xjh.2_Missense_Mutation_p.K120N|FUT10_uc003xji.1_Missense_Mutation_p.K120N	p.K120N	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	3	716	-			120			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.360A>C	CCDS6088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.17|15.17	2.753972|2.753972	0.49362|0.49362	.|.	.|.	ENSG00000172728|ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021|ENST00000335589	T;T;T|T	0.25414|0.36878	1.8;1.8;1.8|1.23	5.58|5.58	0.345|0.345	0.16011|0.16011	.|.	0.339765|.	0.29002|.	N|.	0.013443|.	T|T	0.34483|0.34483	0.0899|0.0899	L|L	0.43701|0.43701	1.375|1.375	0.22911|0.22911	N|N	0.998573|0.998573	D;B;B;B;P;P|P	0.56287|0.45176	0.975;0.384;0.222;0.409;0.824;0.607|0.852	P;B;B;B;P;P|P	0.55455|0.47705	0.776;0.175;0.096;0.243;0.511;0.477|0.555	T|T	0.19647|0.19647	-1.0299|-1.0299	10|9	0.16896|0.32370	T|T	0.51|0.25	-10.9519|-10.9519	8.8079|8.8079	0.34950|0.34950	0.0:0.3117:0.0:0.6883|0.0:0.3117:0.0:0.6883	.|.	170;162;120;92;120;162|46	B4E056;B4DLS4;Q6P4F1-5;Q6P4F1-4;Q6P4F1;E7EU36|Q6P4F1-3	.;.;.;.;FUT10_HUMAN;.|.	N|R	120;162;92;92|46	ENSP00000332757:K120N;ENSP00000430428:K92N;ENSP00000429870:K92N|ENSP00000334997:S46R	ENSP00000332757:K120N|ENSP00000334997:S46R	K|S	-|-	3|1	2|0	FUT10|FUT10	33430292|33430292	1.000000|1.000000	0.71417|0.71417	0.898000|0.898000	0.35279|0.35279	0.311000|0.311000	0.27955|0.27955	0.531000|0.531000	0.23052|0.23052	-0.157000|-0.157000	0.11059|0.11059	0.533000|0.533000	0.62120|0.62120	AAA|AGC		0.507	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		19	47	0	0	0	0.00333	0	19	47				
ADRB3	155	broad.mit.edu	37	8	37823632	37823632	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:37823632A>T	ENST00000345060.3	-	1	851	c.356T>A	c.(355-357)cTg>cAg	p.L119Q	ADRB3_ENST00000520341.1_5'Flank	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	119					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	GGTCACACACAGCACGTCCAC	0.692																																							uc003xkr.1		NA																	0				lung(2)	2						c.(355-357)CTG>CAG		adrenergic, beta-3-, receptor	Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)						33.0	30.0	31.0					8																	37823632		2199	4299	6498	SO:0001583	missense	155				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity	g.chr8:37823632A>T	AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.356T>A	8.37:g.37823632A>T	ENSP00000343782:p.Leu119Gln						p.L119Q	NM_000025	NP_000016	P13945	ADRB3_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		1	553	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	119			Helical; Name=3; (By similarity).		Q4JFT4	Missense_Mutation	SNP	ENST00000345060.3	37	c.356T>A	CCDS6099.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576574	0.86645	.	.	ENSG00000188778	ENST00000345060	T	0.35236	1.32	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.71921	0.3397	H	0.96805	3.885	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	T	0.82386	-0.0483	10	0.87932	D	0	.	14.1618	0.65452	1.0:0.0:0.0:0.0	.	119	P13945	ADRB3_HUMAN	Q	119	ENSP00000343782:L119Q	ENSP00000343782:L119Q	L	-	2	0	ADRB3	37942789	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.987000	0.93497	2.080000	0.62538	0.379000	0.24179	CTG		0.692	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025		9	13	0	0	0	0.006214	0	9	13				
ANK1	286	broad.mit.edu	37	8	41555583	41555583	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:41555583A>T	ENST00000347528.4	-	24	2698	c.2615T>A	c.(2614-2616)aTc>aAc	p.I872N	ANK1_ENST00000379758.2_Missense_Mutation_p.I872N|ANK1_ENST00000265709.8_Missense_Mutation_p.I913N|ANK1_ENST00000396942.1_Missense_Mutation_p.I872N|ANK1_ENST00000396945.1_Missense_Mutation_p.I872N|ANK1_ENST00000289734.7_Missense_Mutation_p.I872N|ANK1_ENST00000352337.4_Missense_Mutation_p.I872N	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	872					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTGACCTGATCACCACTGT	0.562																																							uc003xok.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(2614-2616)ATC>AAC		ankyrin 1 isoform 1							108.0	88.0	95.0					8																	41555583		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41555583A>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2615T>A	8.37:g.41555583A>T	ENSP00000339620:p.Ile872Asn					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.I188N|ANK1_uc003xoi.2_Missense_Mutation_p.I872N|ANK1_uc003xoj.2_Missense_Mutation_p.I872N|ANK1_uc003xol.2_Missense_Mutation_p.I872N|ANK1_uc003xom.2_Missense_Mutation_p.I913N	p.I872N	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		24	2699	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	872					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2615T>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.04|11.04	1.520841|1.520841	0.27211|0.27211	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.66280	.|-0.19;-0.19;-0.17;-0.15;-0.17;-0.16;-0.2	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.139422	.|0.48767	.|D	.|0.000165	T|T	0.64692|0.64692	0.2621|0.2621	M|M	0.72118|0.72118	2.19|2.19	0.49389|0.49389	D|D	0.999783|0.999783	.|P;P;B;B;P;B	.|0.50272	.|0.565;0.933;0.001;0.003;0.565;0.012	.|B;P;B;B;B;B	.|0.45794	.|0.346;0.493;0.001;0.016;0.346;0.01	T|T	0.64483|0.64483	-0.6397|-0.6397	5|10	.|0.26408	.|T	.|0.33	.|.	13.8124|13.8124	0.63270|0.63270	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|913;872;872;872;872;188	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	E|N	193|872;872;872;872;872;872;913;872	.|ENSP00000339620:I872N;ENSP00000289734:I872N;ENSP00000369082:I872N;ENSP00000380149:I872N;ENSP00000380147:I872N;ENSP00000309131:I872N;ENSP00000265709:I913N	.|ENSP00000265709:I913N	D|I	-|-	3|2	2|0	ANK1|ANK1	41674740|41674740	1.000000|1.000000	0.71417|0.71417	0.618000|0.618000	0.29105|0.29105	0.048000|0.048000	0.14542|0.14542	4.555000|4.555000	0.60767|0.60767	2.150000|2.150000	0.67090|0.67090	0.454000|0.454000	0.30748|0.30748	GAT|ATC		0.562	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		12	26	0	0	0	0.00245	0	12	26				
C8orf37	157657	broad.mit.edu	37	8	96272100	96272100	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:96272100A>C	ENST00000286688.5	-	4	353	c.342T>G	c.(340-342)atT>atG	p.I114M		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	114						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					TCCCACATGGAATAGAGCTTC	0.358																																							uc003yho.1		NA																	0					0						c.(340-342)ATT>ATG		hypothetical protein LOC157657							100.0	96.0	98.0					8																	96272100		2203	4300	6503	SO:0001583	missense	157657							g.chr8:96272100A>C	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.342T>G	8.37:g.96272100A>C	ENSP00000286688:p.Ile114Met						p.I114M	NM_177965	NP_808880	Q96NL8	CH037_HUMAN			4	362	-	Breast(36;3.41e-05)		114						Missense_Mutation	SNP	ENST00000286688.5	37	c.342T>G	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	A	3.340	-0.134773	0.06711	.	.	ENSG00000156172	ENST00000286688	D	0.82433	-1.61	5.5	1.47	0.22746	.	0.580703	0.17608	N	0.168200	T	0.59783	0.2219	N	0.14661	0.345	0.22446	N	0.999099	P	0.37636	0.603	B	0.31812	0.136	T	0.51601	-0.8685	10	0.31617	T	0.26	-0.0138	1.5891	0.02650	0.5211:0.1303:0.0883:0.2603	.	114	Q96NL8	CH037_HUMAN	M	114	ENSP00000286688:I114M	ENSP00000286688:I114M	I	-	3	3	C8orf37	96341276	0.996000	0.38824	0.010000	0.14722	0.223000	0.24884	1.164000	0.31810	0.352000	0.24053	0.460000	0.39030	ATT		0.358	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		30	57	0	0	0	0.003271	0	30	57				
CTHRC1	115908	broad.mit.edu	37	8	104388119	104388119	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:104388119T>C	ENST00000330295.5	+	2	446	c.304T>C	c.(304-306)Tgg>Cgg	p.W102R	CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Missense_Mutation_p.W88R|CTHRC1_ENST00000415886.2_Missense_Mutation_p.W102R	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	102					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGAGGAGTCCTGGACACCCAA	0.463																																							uc003ylk.2		NA																	0				ovary(1)	1						c.(304-306)TGG>CGG		collagen triple helix repeat containing 1							69.0	68.0	68.0					8																	104388119		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104388119T>C	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.304T>C	8.37:g.104388119T>C	ENSP00000330523:p.Trp102Arg					CTHRC1_uc011lhq.1_Missense_Mutation_p.W102R	p.W102R	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	403	+			102					G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.304T>C	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165590	0.78339	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	T;T;T	0.74842	-0.08;-0.88;0.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80879	0.4708	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.87578	0.998;0.741	T	0.78740	-0.2086	10	0.30854	T	0.27	-4.0992	15.9482	0.79809	0.0:0.0:0.0:1.0	.	102;102	E7EVQ5;Q96CG8	.;CTHR1_HUMAN	R	102;102;88;88	ENSP00000330523:W102R;ENSP00000416045:W102R;ENSP00000430550:W88R	ENSP00000297577:W88R	W	+	1	0	CTHRC1	104457295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.166000	0.68216	0.477000	0.44152	TGG		0.463	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		14	29	0	0	0	0.00245	0	14	29				
PARP10	84875	broad.mit.edu	37	8	145058713	145058713	+	Splice_Site	SNP	C	C	T	rs200970825		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:145058713C>T	ENST00000313028.7	-	5	1551	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	PARP10_ENST00000525773.1_Splice_Site_p.R498Q|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Splice_Site_p.R486Q	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	486					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCACTCACCCGAAAGCCAGT	0.582																																							uc003zal.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(1456-1458)CGG>CAG		poly (ADP-ribose) polymerase family, member 10							79.0	75.0	76.0					8																	145058713		2203	4300	6503	SO:0001630	splice_region_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058713C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1458+1G>A	8.37:g.145058713C>T						PARP10_uc003zak.3_Missense_Mutation_p.R192Q|PARP10_uc011lku.1_Missense_Mutation_p.R498Q|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.R486Q|PARP10_uc010mfn.1_Missense_Mutation_p.R401Q|PARP10_uc010mfo.1_3'UTR	p.R486Q	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1565	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		486					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.1457G>A	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798570	0.70567	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.13420	2.59;2.61;2.6	3.89	3.01	0.34805	.	0.169237	0.28093	N	0.016630	T	0.16300	0.0392	M	0.67953	2.075	0.28066	N	0.932778	P;D;P	0.53462	0.82;0.96;0.906	B;P;B	0.44732	0.119;0.459;0.38	T	0.11275	-1.0594	10	0.62326	D	0.03	.	6.2428	0.20800	0.0:0.7636:0.0:0.2364	.	498;486;486	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	Q	486;192;486;498	ENSP00000431620:R486Q;ENSP00000325618:R486Q;ENSP00000434776:R498Q	ENSP00000325618:R486Q	R	-	2	0	PARP10	145130701	0.915000	0.31059	0.996000	0.52242	0.850000	0.48378	0.101000	0.15251	0.763000	0.33175	0.552000	0.68991	CGG		0.582	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789	Missense_Mutation	25	38	0	0	0	0.00278	0	25	38				
DMRT3	58524	broad.mit.edu	37	9	990397	990397	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:990397C>A	ENST00000190165.2	+	2	849	c.811C>A	c.(811-813)Ctc>Atc	p.L271I		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	271					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGAGCTCATCCTCAAGGGCTG	0.562																																							uc003zgw.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(811-813)CTC>ATC		doublesex and mab-3 related transcription factor							71.0	74.0	73.0					9																	990397		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990397C>A	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.811C>A	9.37:g.990397C>A	ENSP00000190165:p.Leu271Ile						p.L271I	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	849	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	271					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.811C>A	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226057	0.58668	.	.	ENSG00000064218	ENST00000190165	T	0.60920	0.15	4.82	2.92	0.33932	DMRTA motif (1);UBA-like (1);	0.000000	0.64402	D	0.000003	T	0.72653	0.3487	M	0.79258	2.445	0.44771	D	0.997773	D	0.76494	0.999	D	0.87578	0.998	T	0.74349	-0.3694	10	0.87932	D	0	-28.3917	9.3282	0.38005	0.0:0.7667:0.0:0.2333	.	271	Q9NQL9	DMRT3_HUMAN	I	271	ENSP00000190165:L271I	ENSP00000190165:L271I	L	+	1	0	DMRT3	980397	0.999000	0.42202	1.000000	0.80357	0.931000	0.56810	1.226000	0.32563	1.001000	0.39076	0.455000	0.32223	CTC		0.562	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		28	47	1	0	9.65963e-10	0.003271	1.26783e-09	28	47				
SLC24A2	25769	broad.mit.edu	37	9	19786488	19786488	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:19786488G>A	ENST00000341998.2	-	1	438	c.377C>T	c.(376-378)tCc>tTc	p.S126F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.S126F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	126					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTCCTCAAGGGAAAAGATGTC	0.438																																							uc003zoa.1		NA																	0				ovary(3)	3						c.(376-378)TCC>TTC		solute carrier family 24							105.0	104.0	104.0					9																	19786488		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786488G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.377C>T	9.37:g.19786488G>A	ENSP00000344801:p.Ser126Phe					SLC24A2_uc003zob.1_Missense_Mutation_p.S126F	p.S126F	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	439	-			126			Extracellular (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.377C>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718157	0.68844	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.77358	-1.08;-1.09	5.76	5.76	0.90799	.	0.105373	0.64402	D	0.000002	D	0.87374	0.6161	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74023	0.976;0.982	D	0.85794	0.1369	9	.	.	.	.	19.967	0.97274	0.0:0.0:1.0:0.0	.	126;126	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	F	126	ENSP00000344801:S126F;ENSP00000286344:S126F	.	S	-	2	0	SLC24A2	19776488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.470000	0.66756	2.714000	0.92807	0.655000	0.94253	TCC		0.438	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		29	49	0	0	0	0.008361	0	29	49				
TAF1L	138474	broad.mit.edu	37	9	32631110	32631110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:32631110G>A	ENST00000242310.4	-	1	4557	c.4468C>T	c.(4468-4470)Caa>Taa	p.Q1490*	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1490					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCATGGATTGAGAGATCTGA	0.433																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4468-4470)CAA>TAA		TBP-associated factor RNA polymerase 1-like							190.0	175.0	180.0					9																	32631110		2203	4300	6503	SO:0001587	stop_gained	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631110G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4468C>T	9.37:g.32631110G>A	ENSP00000418379:p.Gln1490*					uc003zrh.1_5'Flank	p.Q1490*	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4558	-			1490					Q0VG57	Nonsense_Mutation	SNP	ENST00000242310.4	37	c.4468C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	41	9.047185	0.99048	.	.	ENSG00000122728	ENST00000242310	.	.	.	0.489	0.489	0.16854	.	0.053617	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.7111	0.23278	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	1490	.	ENSP00000418379:Q1490X	Q	-	1	0	TAF1L	32621110	1.000000	0.71417	0.993000	0.49108	0.425000	0.31504	5.762000	0.68809	0.514000	0.28300	0.205000	0.17691	CAA		0.433	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			36	97	0	0	0	0.003755	0	36	97				
SPINK4	27290	broad.mit.edu	37	9	33248442	33248442	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:33248442C>A	ENST00000379721.3	+	4	279	c.234C>A	c.(232-234)atC>atA	p.I78I	SPINK4_ENST00000379725.1_Silent_p.I101I|SPINK4_ENST00000379723.1_Silent_p.I101I	NM_014471.1	NP_055286.1	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	78	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			AACAGGACATCCAGATCATGA	0.498																																							uc003zsh.2		NA																	0					0						c.(232-234)ATC>ATA		serine peptidase inhibitor, Kazal type 4							115.0	91.0	99.0					9																	33248442		2203	4300	6503	SO:0001819	synonymous_variant	27290					extracellular region	serine-type endopeptidase inhibitor activity	g.chr9:33248442C>A	AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"""Serine peptidase inhibitors, Kazal type"""	16646	protein-coding gene	gene with protein product		613929	"""serine protease inhibitor, Kazal type 4"""			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379721.3:c.234C>A	9.37:g.33248442C>A						SUGT1P1_uc010mjq.1_Intron	p.I78I	NM_014471	NP_055286	O60575	ISK4_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		4	245	+			78			Kazal-like.		Q2YDT7	Silent	SNP	ENST00000379721.3	37	c.234C>A	CCDS6536.1																																																																																				0.498	SPINK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052035.1	NM_014471		5	30	1	0	0.000602214	0.000602	0.000632325	5	30				
TLN1	7094	broad.mit.edu	37	9	35722169	35722169	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:35722169C>A	ENST00000314888.9	-	9	1248	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TLN1_ENST00000540444.1_Missense_Mutation_p.V299L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	299	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTAGCTTCACGTAGCGGACC	0.488																																							uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(895-897)GTG>TTG		talin 1							200.0	152.0	168.0					9																	35722169		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35722169C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.895G>T	9.37:g.35722169C>A	ENSP00000316029:p.Val299Leu						p.V299L	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1249	-	all_epithelial(49;0.167)		299			FERM.|Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.895G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537492	0.96460	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68479	-0.33;-0.33	5.93	5.93	0.95920	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	N	0.10760	0.04	0.80722	D	1	P	0.46395	0.877	P	0.45753	0.492	T	0.65348	-0.6190	10	0.72032	D	0.01	-17.9727	20.3363	0.98740	0.0:1.0:0.0:0.0	.	299	Q9Y490	TLN1_HUMAN	L	299	ENSP00000316029:V299L;ENSP00000442981:V299L	ENSP00000316029:V299L	V	-	1	0	TLN1	35712169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	GTG		0.488	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		22	50	1	0	1.77063e-15	0.005443	2.69723e-15	22	50				
PRUNE2	158471	broad.mit.edu	37	9	79318531	79318531	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:79318531G>T	ENST00000376718.3	-	9	8121	c.7998C>A	c.(7996-7998)ctC>ctA	p.L2666L	PRUNE2_ENST00000428286.1_Silent_p.L2307L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2666					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACCCAAGCCGAGTTCAGAGA	0.552																																							uc010mpk.2		NA																	0					0						c.(7996-7998)CTC>CTA		prune homolog 2							44.0	42.0	42.0					9																	79318531		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318531G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7998C>A	9.37:g.79318531G>T						PRUNE2_uc004akj.3_Silent_p.L119L|PRUNE2_uc010mpl.1_Silent_p.L119L	p.L2666L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			9	8122	-			2666					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.7998C>A	CCDS47982.1																																																																																				0.552	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		15	37	1	0	1.15088e-07	0.004007	1.36987e-07	15	37				
SVEP1	79987	broad.mit.edu	37	9	113169975	113169975	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:113169975C>A	ENST00000401783.2	-	38	8241	c.7905G>T	c.(7903-7905)gaG>gaT	p.E2635D	SVEP1_ENST00000297826.5_Missense_Mutation_p.E561D|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2612D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2635					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGTCTTCTTGCTCAAAATATC	0.443																																							uc010mtz.2		NA																	0				ovary(7)	7						c.(7903-7905)GAG>GAT		polydom							216.0	212.0	213.0					9																	113169975		1899	4126	6025	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169975C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7905G>T	9.37:g.113169975C>A	ENSP00000384917:p.Glu2635Asp					SVEP1_uc010mty.2_Missense_Mutation_p.E561D	p.E2635D	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	8242	-			2635					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.7905G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.851493	0.00066	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.76060	-0.98;-0.99;-0.52	5.4	-1.08	0.09936	.	0.617854	0.16770	N	0.200249	T	0.33585	0.0868	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26608	-1.0098	10	0.12103	T	0.63	.	0.8518	0.01174	0.2859:0.1151:0.3307:0.2683	.	2635	Q4LDE5	SVEP1_HUMAN	D	2635;2612;561;307	ENSP00000384917:E2635D;ENSP00000363593:E2612D;ENSP00000297826:E561D	ENSP00000297826:E561D	E	-	3	2	SVEP1	112209796	0.003000	0.15002	0.979000	0.43373	0.120000	0.20174	-0.200000	0.09478	-0.081000	0.12662	-0.482000	0.04802	GAG		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				51	166	1	0	1.22102e-19	0.00361	2.05131e-19	51	166				
PAPPA	5069	broad.mit.edu	37	9	119065076	119065076	+	Silent	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:119065076A>C	ENST00000328252.3	+	10	3363	c.2994A>C	c.(2992-2994)gtA>gtC	p.V998V	PAPPA_ENST00000534838.1_Silent_p.V36V|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	998					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGATGGGGTATGTGAGGAGT	0.448																																							uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(2992-2994)GTA>GTC		pregnancy-associated plasma protein A							104.0	92.0	96.0					9																	119065076		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065076A>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2994A>C	9.37:g.119065076A>C						PAPPA_uc011lxp.1_Silent_p.V693V|PAPPA_uc011lxq.1_Silent_p.V373V	p.V998V	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			10	3375	+			998					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.2994A>C	CCDS6813.1																																																																																				0.448	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		3	65	0	0	0	0.004672	0	3	65				
OR1J4	26219	broad.mit.edu	37	9	125282323	125282323	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:125282323G>A	ENST00000340750.1	+	1	904	c.904G>A	c.(904-906)Gag>Aag	p.E302K		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GGGAGCCCTGGAGAGACTCTT	0.423																																							uc011lyw.1		NA																	0					0						c.(904-906)GAG>AAG		olfactory receptor, family 1, subfamily J,							58.0	57.0	58.0					9																	125282323		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125282323G>A	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.904G>A	9.37:g.125282323G>A	ENSP00000343521:p.Glu302Lys						p.E302K	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	904	+			302			Cytoplasmic (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.904G>A	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.079916	0.08533	.	.	ENSG00000239590	ENST00000340750	T	0.31247	1.5	5.36	-2.27	0.06846	.	0.758519	0.10592	N	0.656696	T	0.06371	0.0164	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40021	-0.9585	10	0.02654	T	1	.	6.0641	0.19854	0.4081:0.2274:0.3645:0.0	.	302	Q8NGS1	OR1J4_HUMAN	K	302	ENSP00000343521:E302K	ENSP00000343521:E302K	E	+	1	0	OR1J4	124322144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.628000	0.05515	-0.076000	0.12775	-0.131000	0.14894	GAG		0.423	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			14	38	0	0	0	0.003163	0	14	38				
CRB2	286204	broad.mit.edu	37	9	126132529	126132529	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:126132529C>A	ENST00000373631.3	+	7	1198	c.1197C>A	c.(1195-1197)ggC>ggA	p.G399G	CRB2_ENST00000373629.2_Silent_p.G67G|CRB2_ENST00000359999.3_Silent_p.G399G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	399	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGCTCACTGGCTGCCAGGGCC	0.642																																							uc004bnx.1		NA																	0				ovary(1)	1						c.(1195-1197)GGC>GGA		crumbs homolog 2 precursor							35.0	40.0	38.0					9																	126132529		2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132529C>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1197C>A	9.37:g.126132529C>A						CRB2_uc004bnw.1_Silent_p.G399G	p.G399G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			7	1289	+			399			Extracellular (Potential).|EGF-like 9.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.1197C>A	CCDS6852.2																																																																																				0.642	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		18	29	1	0	2.94398e-08	0.007413	3.60638e-08	18	29				
NUP188	23511	broad.mit.edu	37	9	131747255	131747255	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:131747255A>T	ENST00000372577.2	+	20	2059	c.2038A>T	c.(2038-2040)Act>Tct	p.T680S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	680					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTATGGGGTTACTATTGCCTT	0.468											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc004bws.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(2038-2040)ACT>TCT		nucleoporin 188kDa							207.0	168.0	181.0					9																	131747255		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131747255A>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2038A>T	9.37:g.131747255A>T	ENSP00000361658:p.Thr680Ser		OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1590	NUP188_uc004bwu.2_Missense_Mutation_p.T23S	p.T680S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			20	2060	+			680					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2038A>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119008	0.56505	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37915	1.17	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.32530	0.975	0.58432	D	0.999997	D;P	0.76494	0.999;0.9	D;P	0.78314	0.991;0.622	T	0.48614	-0.9020	10	0.52906	T	0.07	-19.0613	15.4338	0.75125	1.0:0.0:0.0:0.0	.	13;680	E9PET9;Q5SRE5	.;NU188_HUMAN	S	569;680	ENSP00000361658:T680S	ENSP00000349125:T569S	T	+	1	0	NUP188	130787076	1.000000	0.71417	0.996000	0.52242	0.735000	0.41995	6.744000	0.74854	2.241000	0.73720	0.482000	0.46254	ACT		0.468	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			22	72	0	0	0	0.002299	0	22	72				
CACNA1B	774	broad.mit.edu	37	9	140954117	140954117	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:140954117A>T	ENST00000371372.1	+	31	4741	c.4596A>T	c.(4594-4596)agA>agT	p.R1532S	CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1532S|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1532S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1533S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1533S|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R728S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1532					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTATTTCAGAGATGCCTGGA	0.428																																							uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(4594-4596)AGA>AGT		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						177.0	169.0	172.0					9																	140954117		1893	4120	6013	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140954117A>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4596A>T	9.37:g.140954117A>T	ENSP00000360423:p.Arg1532Ser					CACNA1B_uc011mfd.1_Missense_Mutation_p.R1062S|CACNA1B_uc004coi.2_Missense_Mutation_p.R746S	p.R1532S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	31	4741	+	all_cancers(76;0.166)		1532			Cytoplasmic (Potential).|IV.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4596A>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221091	0.58560	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16;-5.16;-5.16	5.5	4.37	0.52481	.	0.048667	0.85682	D	0.000000	D	0.98163	0.9393	L	0.53729	1.69	0.58432	D	0.999998	B;D;D	0.64830	0.07;0.994;0.994	B;D;D	0.69479	0.021;0.964;0.964	D	0.96466	0.9345	10	0.20046	T	0.44	.	7.9689	0.30115	0.7918:0.1371:0.0711:0.0	.	1532;1533;1532	B1AQK4;B1AQK7;B1AQK6	.;.;.	S	1532;1532;728;1532;1533;1533	ENSP00000360423:R1532S;ENSP00000277551:R1532S;ENSP00000277549:R728S;ENSP00000360414:R1532S;ENSP00000360408:R1533S;ENSP00000360406:R1533S	ENSP00000277549:R728S	R	+	3	2	CACNA1B	140073938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.751000	0.38339	1.049000	0.40321	0.454000	0.30748	AGA		0.428	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		36	84	0	0	0	0.005524	0	36	84				
ARSF	416	broad.mit.edu	37	X	3019232	3019232	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:3019232C>A	ENST00000381127.1	+	8	1293	c.1072C>A	c.(1072-1074)Caa>Aaa	p.Q358K	ARSF_ENST00000537104.1_Missense_Mutation_p.Q358K|ARSF_ENST00000359361.2_Missense_Mutation_p.Q358K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	358					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCATGCCCAACTTGGTGG	0.438																																							uc004cre.1		NA																	0				ovary(2)	2						c.(1072-1074)CAA>AAA		arylsulfatase F precursor							145.0	123.0	130.0					X																	3019232		2203	4299	6502	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3019232C>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1072C>A	X.37:g.3019232C>A	ENSP00000370519:p.Gln358Lys					ARSF_uc004crf.1_Missense_Mutation_p.Q358K	p.Q358K	NM_004042	NP_004033	P54793	ARSF_HUMAN			8	1293	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	358					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.1072C>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861351	0.32884	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93547	-3.24;-3.24;-3.24	2.81	2.81	0.32909	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.239856	0.35124	U	0.003426	D	0.89646	0.6775	L	0.48642	1.525	0.32902	D	0.513312	B	0.24651	0.108	B	0.28709	0.093	D	0.87713	0.2568	10	0.22109	T	0.4	.	13.1568	0.59522	0.0:1.0:0.0:0.0	.	358	P54793	ARSF_HUMAN	K	358	ENSP00000370519:Q358K;ENSP00000445594:Q358K;ENSP00000352319:Q358K	ENSP00000352319:Q358K	Q	+	1	0	ARSF	3029232	0.989000	0.36119	0.005000	0.12908	0.003000	0.03518	3.712000	0.54875	1.300000	0.44818	0.534000	0.68092	CAA		0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			37	25	1	0	9.73076e-26	0.006999	1.70288e-25	37	25				
GEMIN8	54960	broad.mit.edu	37	X	14038355	14038355	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:14038355C>T	ENST00000380523.4	-	4	632	c.314G>A	c.(313-315)aGg>aAg	p.R105K	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.R105K	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	105					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TGCCTGGATCCTACTGCTGTA	0.483																																							uc004cwb.2		NA																	0					0						c.(313-315)AGG>AAG		gem (nuclear organelle) associated protein 8							207.0	191.0	196.0					X																	14038355		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038355C>T	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.314G>A	X.37:g.14038355C>T	ENSP00000369895:p.Arg105Lys					GEMIN8_uc004cwc.2_Missense_Mutation_p.R105K|GEMIN8_uc004cwd.2_Missense_Mutation_p.R105K	p.R105K	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN			4	657	-			105					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.314G>A	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	11.21	1.571612	0.28003	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.40756	1.02;1.02;1.02	4.07	1.02	0.19986	.	0.709181	0.13338	N	0.395398	T	0.31327	0.0793	L	0.39898	1.24	0.09310	N	1	B	0.24426	0.103	B	0.28011	0.085	T	0.25152	-1.0140	10	0.30854	T	0.27	.	6.9724	0.24656	0.0:0.4992:0.0:0.5008	.	105	Q9NWZ8	GEMI8_HUMAN	K	105	ENSP00000369895:R105K;ENSP00000381398:R105K;ENSP00000369894:R105K	ENSP00000369894:R105K	R	-	2	0	GEMIN8	13948276	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.080000	0.11339	0.033000	0.15463	0.594000	0.82650	AGG		0.483	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		57	102	0	0	0	0.00361	0	57	102				
CXorf22	170063	broad.mit.edu	37	X	35966464	35966464	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:35966464C>A	ENST00000297866.5	+	4	617	c.551C>A	c.(550-552)cCc>cAc	p.P184H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	184										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGCCAATTACCCATCCTCATT	0.403																																							uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(550-552)CCC>CAC		hypothetical protein LOC170063							204.0	161.0	176.0					X																	35966464		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35966464C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.551C>A	X.37:g.35966464C>A	ENSP00000297866:p.Pro184His					CXorf22_uc010ngv.2_RNA	p.P184H	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			4	610	+			184					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.551C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380305	0.24944	.	.	ENSG00000165164	ENST00000297866	T	0.41065	1.01	4.91	4.91	0.64330	.	0.535414	0.21315	N	0.076570	T	0.52901	0.1763	M	0.68952	2.095	0.09310	N	1	D	0.59767	0.986	P	0.56434	0.798	T	0.47560	-0.9108	10	0.37606	T	0.19	-1.4906	10.0084	0.41970	0.0:0.893:0.0:0.107	.	184	Q6ZTR5	CX022_HUMAN	H	184	ENSP00000297866:P184H	ENSP00000297866:P184H	P	+	2	0	CXorf22	35876385	1.000000	0.71417	0.468000	0.27192	0.077000	0.17291	3.416000	0.52707	2.169000	0.68431	0.534000	0.68092	CCC		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		44	25	1	0	2.68985e-26	0.00361	4.73543e-26	44	25				
KDM6A	7403	broad.mit.edu	37	X	44918511	44918511	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:44918511A>T	ENST00000377967.4	+	12	1035	c.994A>T	c.(994-996)Aat>Tat	p.N332Y	KDM6A_ENST00000536777.1_Missense_Mutation_p.N332Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N332Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.N332Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	332	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCAGCAGCAAAATCAGCCCAT	0.398			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		8	Whole gene deletion(6)|No detectable mRNA/protein(2)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(994-996)AAT>TAT		ubiquitously transcribed tetratricopeptide							79.0	63.0	69.0					X																	44918511		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44918511A>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.994A>T	X.37:g.44918511A>T	ENSP00000367203:p.Asn332Tyr					KDM6A_uc010nhk.2_Missense_Mutation_p.N332Y|KDM6A_uc011mkz.1_Missense_Mutation_p.N332Y|KDM6A_uc011mla.1_Missense_Mutation_p.N332Y|KDM6A_uc011mlb.1_Missense_Mutation_p.N332Y|KDM6A_uc011mlc.1_Missense_Mutation_p.N81Y|KDM6A_uc011mld.1_5'UTR	p.N332Y	NM_021140	NP_066963	O15550	KDM6A_HUMAN			12	1369	+			332			TPR 7.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.994A>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551371	0.45383	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	L	0.50333	1.59	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.994;1.0;0.992;0.998;0.992	T	0.74200	-0.3742	10	0.87932	D	0	-14.905	14.7878	0.69816	1.0:0.0:0.0:0.0	.	332;332;332;332;332	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	Y	332	ENSP00000367203:N332Y;ENSP00000437405:N332Y;ENSP00000372355:N332Y;ENSP00000443078:N332Y	ENSP00000367203:N332Y	N	+	1	0	KDM6A	44803455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	1.873000	0.54277	0.417000	0.27973	AAT		0.398	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		13	8	0	0	0	0.00245	0	13	8				
CACNA1F	778	broad.mit.edu	37	X	49066115	49066115	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:49066115C>A	ENST00000376265.2	-	41	4889	c.4828G>T	c.(4828-4830)Gcc>Tcc	p.A1610S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1599S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1545S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1610					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCTAGGGGCGGCGTCGTTG	0.582																																							uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4828-4830)GCC>TCC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						75.0	55.0	62.0					X																	49066115		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49066115C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4828G>T	X.37:g.49066115C>A	ENSP00000365441:p.Ala1610Ser					CACNA1F_uc010nip.2_Missense_Mutation_p.A1599S	p.A1610S	NM_005183	NP_005174	O60840	CAC1F_HUMAN			41	4890	-			1610			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.4828G>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285360	0.01387	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265;ENST00000486943	D;D;D	0.96104	-3.91;-3.84;-3.84	5.59	-1.8	0.07907	.	0.875085	0.10036	N	0.724054	T	0.80824	0.4697	N	0.01352	-0.895	0.09310	N	1	B;B	0.14438	0.0;0.01	B;B	0.10450	0.001;0.005	T	0.73257	-0.4040	10	0.19147	T	0.46	.	2.5853	0.04829	0.5093:0.1353:0.2342:0.1212	.	1599;1610	F5CIQ9;O60840	.;CAC1F_HUMAN	S	1545;1599;1610;20	ENSP00000365427:A1545S;ENSP00000321618:A1599S;ENSP00000365441:A1610S	ENSP00000321618:A1599S	A	-	1	0	CACNA1F	48953059	0.000000	0.05858	0.006000	0.13384	0.027000	0.11550	-0.418000	0.07080	-0.326000	0.08564	-0.253000	0.11424	GCC		0.582	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		12	7	1	0	7.03913e-09	0.001368	8.76908e-09	12	7				
ASB12	142689	broad.mit.edu	37	X	63445215	63445215	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:63445215C>T	ENST00000396130.2	-	1	288	c.289G>A	c.(289-291)Gca>Aca	p.A97T	MTMR8_ENST00000453546.1_Missense_Mutation_p.A481T|ASB12_ENST00000362002.2_Missense_Mutation_p.A106T			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	97					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GGCGTCTGTGCCTTGACATCC	0.527																																							uc011mou.1		NA																	2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1441-1443)GCA>ACA		myotubularin related protein 8							108.0	62.0	77.0					X																	63445215		2203	4299	6502	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445215C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.289G>A	X.37:g.63445215C>T	ENSP00000379435:p.Ala97Thr					ASB12_uc004dvp.1_Missense_Mutation_p.A97T|ASB12_uc004dvq.1_Missense_Mutation_p.A106T|ASB12_uc004dvr.1_Missense_Mutation_p.A106T	p.A481T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1509	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1441G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.103934	0.76983	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.52754	0.65;0.65;0.65	4.0	4.0	0.46444	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	N	0.24115	0.695	0.33667	D	0.61045	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68213	-0.5468	10	0.87932	D	0	-25.2324	14.2368	0.65932	0.0:1.0:0.0:0.0	.	481;97	B4DQL0;Q8WXK4	.;ASB12_HUMAN	T	106;97;106;481	ENSP00000355195:A106T;ENSP00000379435:A97T;ENSP00000394003:A481T	ENSP00000354626:A106T	A	-	1	0	ASB12;MTMR8	63361940	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.998000	0.76277	1.986000	0.57962	0.468000	0.43344	GCA		0.527	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	10	0	0	0	0.004672	0	3	10				
PCDH11X	27328	broad.mit.edu	37	X	91131959	91131959	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:91131959T>C	ENST00000373094.1	+	2	1565	c.720T>C	c.(718-720)acT>acC	p.T240T	PCDH11X_ENST00000373088.1_Silent_p.T240T|PCDH11X_ENST00000395337.2_Silent_p.T240T|PCDH11X_ENST00000504220.2_Silent_p.T240T|PCDH11X_ENST00000361724.1_Silent_p.T240T|PCDH11X_ENST00000298274.8_Silent_p.T240T|PCDH11X_ENST00000361655.2_Silent_p.T240T|PCDH11X_ENST00000373097.1_Silent_p.T240T|PCDH11X_ENST00000406881.1_Silent_p.T240T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGAGTGTTACTGATACAAATG	0.428																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(718-720)ACT>ACC		protocadherin 11 X-linked isoform c							215.0	187.0	196.0					X																	91131959		2202	4298	6500	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131959T>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.720T>C	X.37:g.91131959T>C						PCDH11X_uc004efl.1_Silent_p.T240T|PCDH11X_uc004efo.1_Silent_p.T240T|PCDH11X_uc010nmv.1_Silent_p.T240T|PCDH11X_uc004efm.1_Silent_p.T240T|PCDH11X_uc004efn.1_Silent_p.T240T|PCDH11X_uc004efh.1_Silent_p.T240T|PCDH11X_uc004efj.1_Silent_p.T240T	p.T240T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	1565	+			240			Extracellular (Potential).|Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.720T>C	CCDS14461.1																																																																																				0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		57	51	0	0	0	0.00361	0	57	51				
TBL1Y	90665	broad.mit.edu	37	Y	6954409	6954409	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrY:6954409C>T	ENST00000383032.1	+	16	1878	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.P411S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P411S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CAAGTGGAGCCCCACCGGGCC	0.552																																							uc004frb.2		NA																	0					0						c.(1231-1233)CCC>TCC		transducin beta-like 1Y							36.0	38.0	37.0					Y																	6954409		586	1927	2513	SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6954409C>T	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.1231C>T	Y.37:g.6954409C>T	ENSP00000372499:p.Pro411Ser					TBL1Y_uc004frc.2_Missense_Mutation_p.P411S|TBL1Y_uc004frd.2_Missense_Mutation_p.P411S|TBL1Y_uc011nap.1_Missense_Mutation_p.P253S	p.P411S	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN			16	1878	+			411			WD 6.		A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.1231C>T	CCDS14779.1																																																																																				0.552	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		10	4	0	0	0	0.008291	0	10	4				
ASH1L	55870	broad.mit.edu	37	1	155451804	155451804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:155451804delT	ENST00000368346.3	-	3	1496	c.857delA	c.(856-858)gatfs	p.D286fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.D286fs|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	286					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCCAGGATCTTTAGTTAC	0.403																																							uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(856-858)GATfs		absent, small, or homeotic 1-like							98.0	94.0	96.0					1																	155451804		2203	4300	6503	SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155451804delT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.857delA	1.37:g.155451804delT	ENSP00000357330:p.Asp286fs					ASH1L_uc001fkt.2_Frame_Shift_Del_p.D286fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.D286fs	p.D286fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	1337	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		286					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37	c.857delA																																																																																					0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		100	97	NA	NA	NA	NA	NA	100	97	---	---	---	---
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	CGC	-	rs151075597	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	CGC	CGC	-	-	CGC	CGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:111020740_111020742delCGC	ENST00000354300.3	-	1	383_385	c.95_97delGCG	c.(94-99)ggcgac>gac	p.G32del		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	32	Gly-rich.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGTCCGTAGTcgccgccgccgcc	0.739														302	0.0603035	0.0719	0.1254	5008	,	,		10517	0.001		0.0924	False		,,,				2504	0.0266						uc001trh.1		NA																	0					0						c.(94-99)GGCGAC>GAC		T-cell activation protein phosphatase 2C				149,1205		60,29,588						4.1	1.0		dbSNP_126	4	388,2704		139,110,1297	no	coding	PPTC7	NM_139283.1		199,139,1885	A1A1,A1R,RR		12.5485,11.0044,12.0783				537,3909				SO:0001651	inframe_deletion	160760						metal ion binding|phosphoprotein phosphatase activity	g.chr12:111020740_111020742delCGC	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.95_97delGCG	12.37:g.111020749_111020751delCGC	ENSP00000346255:p.Gly32del						p.G32del	NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN			1	323_325	-			32			Gly-rich.		B3KWC5|Q68DZ7|Q6UY82	In_Frame_Del	DEL	ENST00000354300.3	37	c.95_97delGCG	CCDS9149.1																																																																																				0.739	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		6	3	NA	NA	NA	NA	NA	6	3	---	---	---	---
RNF6	6049	broad.mit.edu	37	13	26788700	26788700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:26788700delC	ENST00000381588.4	-	5	2071	c.1319delG	c.(1318-1320)ggcfs	p.G440fs	RNF6_ENST00000381570.3_Frame_Shift_Del_p.G440fs|RNF6_ENST00000399762.2_Frame_Shift_Del_p.G84fs|RNF6_ENST00000346166.3_Frame_Shift_Del_p.G440fs|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	440					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCGGCGAAAGCCCCCACTATT	0.433																																							uc001uqo.2		NA																	0				ovary(1)|skin(1)	2						c.(1318-1320)GGCfs		ring finger protein 6							102.0	103.0	103.0					13																	26788700		2203	4300	6503	SO:0001589	frameshift_variant	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788700delC	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1319delG	13.37:g.26788700delC	ENSP00000371000:p.Gly440fs					RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Frame_Shift_Del_p.G440fs|RNF6_uc001uqp.2_Frame_Shift_Del_p.G440fs|RNF6_uc001uqq.2_Frame_Shift_Del_p.G440fs|RNF6_uc010tdk.1_Frame_Shift_Del_p.G84fs	p.G440fs	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1610	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	440					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Frame_Shift_Del	DEL	ENST00000381588.4	37	c.1319delG	CCDS9316.1																																																																																				0.433	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		31	94	NA	NA	NA	NA	NA	31	94	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86236596	86236597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:86236596_86236597insT	ENST00000394518.2	+	17	5473_5474	c.5378_5379insT	c.(5377-5382)actttcfs	p.TF1793fs	AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.TF1797fs|AKAP13_ENST00000394510.2_Frame_Shift_Ins_p.TF38fs|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1793					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AACGGGCACACTTTCAGTTCCA	0.416																																					Melanoma(94;603 1453 3280 32295 32951)	Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(5377-5379)ACTfs		A-kinase anchor protein 13 isoform 2																																				SO:0001589	frameshift_variant	11214				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86236596_86236597insT	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5381dupT	15.37:g.86236599_86236599dupT	ENSP00000378026:p.Thr1793fs					AKAP13_uc002blu.1_Frame_Shift_Ins_p.T1797fs|AKAP13_uc010bnf.1_Frame_Shift_Ins_p.T415fs|AKAP13_uc002blw.1_Frame_Shift_Ins_p.T260fs|AKAP13_uc002blx.1_Frame_Shift_Ins_p.T38fs	p.T1793fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN			17	5548_5549	+			1793			Phorbol-ester/DAG-type.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	c.5378_5379insT	CCDS32319.1																																																																																				0.416	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		47	119	NA	NA	NA	NA	NA	47	119	---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43689239	43689239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:43689239delG	ENST00000366175.3	-	2	255	c.125delC	c.(124-126)ccafs	p.P43fs	PSG5_ENST00000404580.1_Frame_Shift_Del_p.P43fs|PSG5_ENST00000599812.1_Frame_Shift_Del_p.P43fs|PSG5_ENST00000407356.1_Frame_Shift_Del_p.P43fs|PSG5_ENST00000407568.1_Frame_Shift_Del_p.P43fs|PSG5_ENST00000342951.6_Frame_Shift_Del_p.P43fs|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	43	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AACTTTGGGTGGCAGGGCTTC	0.473																																							uc002ovu.2		NA																	0				skin(3)	3						c.(124-126)CCAfs		pregnancy specific beta-1-glycoprotein 5							205.0	197.0	200.0					19																	43689239		2201	4295	6496	SO:0001589	frameshift_variant	5673				female pregnancy	extracellular region		g.chr19:43689239delG		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.125delC	19.37:g.43689239delG	ENSP00000382334:p.Pro43fs					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_5'UTR|PSG5_uc002ovx.2_Frame_Shift_Del_p.P42fs|PSG5_uc002ovv.2_Frame_Shift_Del_p.P42fs|PSG5_uc002ovw.2_Frame_Shift_Del_p.P42fs	p.P42fs	NM_002781	NP_002772	Q15238	PSG5_HUMAN			2	256	-		Prostate(69;0.00899)	42			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Frame_Shift_Del	DEL	ENST00000366175.3	37	c.125delC	CCDS12617.1																																																																																				0.473	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		72	191	NA	NA	NA	NA	NA	72	191	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218682911	218682936	+	Frame_Shift_Del	DEL	CCCCAGGGTGCCGGCCCAGGCTGGGA	CCCCAGGGTGCCGGCCCAGGCTGGGA	-	rs371485196|rs140195511|rs555430131	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	CCCCAGGGTGCCGGCCCAGGCTGGGA	CCCCAGGGTGCCGGCCCAGGCTGGGA	-	-	CCCCAGGGTGCCGGCCCAGGCTGGGA	CCCCAGGGTGCCGGCCCAGGCTGGGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:218682911_218682936delCCCCAGGGTGCCGGCCCAGGCTGGGA	ENST00000171887.4	-	24	4259_4284	c.3807_3832delTCCCAGCCTGGGCCGGCACCCTGGGG	c.(3805-3834)agtcccagcctgggccggcaccctggggctfs	p.PSLGRHPGA1270fs	TNS1_ENST00000419504.1_Frame_Shift_Del_p.PSLGRHPGA1257fs|TNS1_ENST00000430930.1_Frame_Shift_Del_p.PSLGRHPGA1249fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1270					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.H1275Q(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTTGGTGAGCCCCAGGGTGCCGGCCCAGGCTGGGACTCCCCGGGG	0.673																																							uc002vgt.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|breast(1)	4						c.(3805-3834)AGTCCCAGCCTGGGCCGGCACCCTGGGGCTfs		tensin																																				SO:0001589	frameshift_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218682911_218682936delCCCCAGGGTGCCGGCCCAGGCTGGGA	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3807_3832delTCCCAGCCTGGGCCGGCACCCTGGGG	2.37:g.218682911_218682936delCCCCAGGGTGCCGGCCCAGGCTGGGA	ENSP00000171887:p.Pro1270fs					TNS1_uc002vgr.2_Frame_Shift_Del_p.S1256fs|TNS1_uc002vgs.2_Frame_Shift_Del_p.S1248fs|TNS1_uc010zjv.1_Frame_Shift_Del_p.S1248fs	p.S1269fs	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4205_4230	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1269_1278					Q4ZG71|Q6IPI5	Frame_Shift_Del	DEL	ENST00000171887.4	37	c.3807_3832delTCCCAGCCTGGGCCGGCACCCTGGGG	CCDS2407.1																																																																																				0.673	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		10	31	NA	NA	NA	NA	NA	10	31	---	---	---	---
DTWD2	285605	broad.mit.edu	37	5	118183864	118183864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:118183864delG	ENST00000510708.1	-	5	680	c.647delC	c.(646-648)ccgfs	p.P216fs	DTWD2_ENST00000515439.3_Frame_Shift_Del_p.P120fs|DTWD2_ENST00000304058.4_Frame_Shift_Del_p.P150fs	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	216										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TCTATTAGTCGGCTGCATCCG	0.318																																							uc003ksa.2		NA																	0					0						c.(646-648)CCGfs		DTW domain containing 2							69.0	66.0	67.0					5																	118183864		2202	4300	6502	SO:0001589	frameshift_variant	285605							g.chr5:118183864delG		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.647delC	5.37:g.118183864delG	ENSP00000425048:p.Pro216fs						p.P216fs	NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	5	681	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	216						Frame_Shift_Del	DEL	ENST00000510708.1	37	c.647delC	CCDS34216.1																																																																																				0.318	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		17	80	NA	NA	NA	NA	NA	17	80	---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108193003	108193003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:108193003delC	ENST00000369002.4	-	21	2367	c.2188delG	c.(2188-2190)gatfs	p.D730fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	730					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ATTGCTGTATCCCACTGTGGG	0.433																																							uc003psc.3		NA																	0				ovary(1)|skin(1)	2						c.(2188-2190)GATfs		SEC63-like protein							134.0	122.0	126.0					6																	108193003		2203	4300	6503	SO:0001589	frameshift_variant	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108193003delC	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.2188delG	6.37:g.108193003delC	ENSP00000357998:p.Asp730fs					SEC63_uc003psb.3_Frame_Shift_Del_p.D557fs	p.D730fs	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	21	2457	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	730			Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Frame_Shift_Del	DEL	ENST00000369002.4	37	c.2188delG	CCDS5061.1																																																																																				0.433	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		55	106	NA	NA	NA	NA	NA	55	106	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:131019389_131019390insA	ENST00000421699.2	-	26	2977_2978	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Frame_Shift_Ins_p.Y977fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564																																							uc011maw.1		NA																	2	Deletion - Frameshift(2)		ovary(1)|large_intestine(1)	ovary(1)	1						c.(2965-2967)TACfs		Golgi autoantigen, golgin subfamily a, 2																																				SO:0001589	frameshift_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019389_131019390insA	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2966dupT	9.37:g.131019397_131019397dupA	ENSP00000416097:p.Tyr989fs					GOLGA2_uc010mxw.2_Frame_Shift_Ins_p.Y312fs|GOLGA2_uc004buh.2_Frame_Shift_Ins_p.Y339fs	p.Y989fs	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			26	2978_2979	-			989					Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Ins	INS	ENST00000421699.2	37	c.2965_2966insT	CCDS6896.2																																																																																				0.564	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		7	172	NA	NA	NA	NA	NA	7	172	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47028743	47028744	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:47028743_47028744insT	ENST00000377604.3	+	3	789_790	c.47_48insT	c.(46-51)tatggafs	p.G17fs	RBM10_ENST00000329236.7_Frame_Shift_Ins_p.G17fs|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.G17fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	17					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTGGCCGCTATGGAGCCACTG	0.584																																					Melanoma(171;120 2705 19495 39241)	Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(46-48)TATfs		RNA binding motif protein 10 isoform 1																																				SO:0001589	frameshift_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47028743_47028744insT	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.48dupT	X.37:g.47028744_47028744dupT	ENSP00000366829:p.Gly17fs					RBM10_uc004dhe.1_Frame_Shift_Ins_p.M14fs|RBM10_uc004dhg.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc004dhh.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc010nhq.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc004dhi.2_Frame_Shift_Ins_p.Y81fs	p.Y16fs	NM_005676	NP_005667	P98175	RBM10_HUMAN			3	426_427	+			16					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Frame_Shift_Ins	INS	ENST00000377604.3	37	c.47_48insT	CCDS14274.1																																																																																				0.584	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		16	21	NA	NA	NA	NA	NA	16	21	---	---	---	---
