#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CSMD2	114784	broad.mit.edu	37	1	34117999	34117999	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:34117999G>A	ENST00000373380.1	-	7	1349	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.P1504S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1464	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1464S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGGGTAGGGTTCTGGGTAA	0.567																																						uc001bxn.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(4390-4392)CCC>TCC		CUB and Sushi multiple domains 2							195.0	159.0	171.0					1																	34117999		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34117999G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1129C>T	1.37:g.34117999G>A	ENSP00000362478:p.Pro377Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.P1504S|CSMD2_uc001bxo.1_Missense_Mutation_p.P377S	p.P1464S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			28	4419	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1464			CUB 9.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4390C>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.877635	0.91664	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.28069	1.63;1.63	5.24	5.24	0.73138	CUB (5);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	N	0.20807	0.61	0.80722	D	1	D;D;D	0.89917	1.0;0.972;0.972	D;P;P	0.91635	0.999;0.896;0.896	T	0.32587	-0.9901	10	0.39692	T	0.17	.	17.799	0.88580	0.0:0.0:1.0:0.0	.	377;1464;1504	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	S	1504;377	ENSP00000362479:P1504S;ENSP00000362478:P377S	ENSP00000241312:P1464S	P	-	1	0	CSMD2	33890586	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.864000	0.99589	2.418000	0.82041	0.555000	0.69702	CCC		0.567	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		34	108	0	0	0	0	34	108				
PDE4B	5142	broad.mit.edu	37	1	66379018	66379018	+	Silent	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:66379018G>T	ENST00000329654.4	+	2	208	c.21G>T	c.(19-21)gtG>gtT	p.V7V	PDE4B_ENST00000371049.3_Silent_p.V7V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	7					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V7V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GCAGGAGTGTGATGACGGTGA	0.393																																						uc001dcn.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(19-21)GTG>GTT		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						145.0	132.0	137.0					1																	66379018		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66379018G>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.21G>T	1.37:g.66379018G>T						PDE4B_uc009war.2_5'UTR|PDE4B_uc001dco.2_Silent_p.V7V	p.V7V	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			2	212	+			7					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.21G>T	CCDS632.1																																																																																				0.393	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		33	95	1	0	1.85e-21	2.16e-21	33	95				
ELTD1	64123	broad.mit.edu	37	1	79385868	79385868	+	Splice_Site	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:79385868C>G	ENST00000370742.3	-	10	1524	c.1461G>C	c.(1459-1461)aaG>aaC	p.K487N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	487					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K487N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCCTACATACCTTATTAGTAT	0.313																																						uc001diq.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(1459-1461)AAG>AAC		EGF, latrophilin and seven transmembrane domain							65.0	61.0	62.0					1																	79385868		1822	4067	5889	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79385868C>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1461+1G>C	1.37:g.79385868C>G							p.K487N	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	10	1617	-			487			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1461G>C	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251786	0.80135	.	.	ENSG00000162618	ENST00000370742	T	0.45668	0.89	5.01	5.01	0.66863	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.48127	-0.9062	9	.	.	.	.	18.6799	0.91543	0.0:1.0:0.0:0.0	.	487	Q9HBW9	ELTD1_HUMAN	N	487	ENSP00000359778:K487N	.	K	-	3	2	ELTD1	79158456	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.638000	0.61353	2.473000	0.83533	0.655000	0.94253	AAG		0.313	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Missense_Mutation	18	67	0	0	0	0	18	67				
GSTM2	2946	broad.mit.edu	37	1	110211613	110211613	+	Splice_Site	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:110211613T>A	ENST00000241337.4	+	3	227		c.e3+2		GSTM2_ENST00000460717.3_Splice_Site|GSTM2_ENST00000369829.2_Splice_Site|GSTM2_ENST00000414179.2_Splice_Site|GSTM2_ENST00000464206.1_Splice_Site|GSTM2_ENST00000369827.3_Splice_Site|GSTM2_ENST00000369831.2_Splice_Site|GSTM2_ENST00000442650.1_Splice_Site	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)						cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.?(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTTCCCAATGTAGGTGCAGGG	0.517																																						uc001dyi.2		NA																	1	Unknown(1)		upper_aerodigestive_tract(1)		0						c.e3+2		glutathione S-transferase mu 2 isoform 1	Glutathione(DB00143)						35.0	37.0	36.0					1																	110211613		2202	4279	6481	SO:0001630	splice_region_variant	2946				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity	g.chr1:110211613T>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.177+2T>A	1.37:g.110211613T>A						GSTM2_uc001dyj.2_Splice_Site_p.N59_splice|GSTM2_uc010ovt.1_Splice_Site_p.N59_splice|GSTM2_uc009wfk.2_Splice_Site	p.N59_splice	NM_000848	NP_000839	P28161	GSTM2_HUMAN		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	491	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Splice_Site	SNP	ENST00000241337.4	37	c.177_splice	CCDS808.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570485	0.45798	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	.	.	.	3.27	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4339	0.27143	0.0:0.0:0.2217:0.7782	.	.	.	.	.	-1	.	.	.	+	.	.	GSTM2	110013136	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	3.382000	0.52463	0.412000	0.25729	0.373000	0.22412	.		0.517	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848	Intron	20	106	0	0	0	0	20	106				
FLG	2312	broad.mit.edu	37	1	152279679	152279679	+	Missense_Mutation	SNP	C	C	A	rs143745201		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:152279679C>A	ENST00000368799.1	-	3	7718	c.7683G>T	c.(7681-7683)agG>agT	p.R2561S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2561	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)	p.R2561R(1)|p.R2561S(1)		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)			ATCCCCAGTTCCTGCTTGTCC	0.587									Ichthyosis																													uc001ezu.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R2561R(1)	upper_aerodigestive_tract(1)|skin(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7681-7683)AGG>AGT		filaggrin							189.0	202.0	198.0					1																	152279679		2200	4300	6500	SO:0001583	missense	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.chr1:152279679C>A	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.7683G>T	1.37:g.152279679C>A	ENSP00000357789:p.Arg2561Ser						p.R2561S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7719	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2561			Ser-rich.|Filaggrin 15.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7683G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505121	0.26949	.	.	ENSG00000143631	ENST00000368799	T	0.04234	3.67	3.4	-6.8	0.01709	.	.	.	.	.	T	0.01320	0.0043	M	0.66939	2.045	0.09310	N	1	B	0.20550	0.046	B	0.27887	0.084	T	0.46582	-0.9181	9	0.12103	T	0.63	.	4.9523	0.14021	0.0:0.4185:0.1684:0.4131	.	2561	P20930	FILA_HUMAN	S	2561	ENSP00000357789:R2561S	ENSP00000357789:R2561S	R	-	3	2	FLG	150546303	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.523000	0.02235	-1.622000	0.01560	0.306000	0.20318	AGG		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		129	327	1	0	1.49e-58	1.77e-58	129	327				
ATP1A2	477	broad.mit.edu	37	1	160100019	160100019	+	Missense_Mutation	SNP	A	A	G	rs201296747		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:160100019A>G	ENST00000361216.3	+	12	1678	c.1589A>G	c.(1588-1590)gAg>gGg	p.E530G	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E530G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	530					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGACAAGGAGATGCAAGAT	0.612													A|||	1	0.000199681	0.0	0.0	5008	,	,		17298	0.001		0.0	False		,,,				2504	0.0					uc001fvc.2		NA																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1588-1590)GAG>GGG		Na+/K+ -ATPase alpha 2 subunit proprotein							82.0	80.0	81.0					1																	160100019		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160100019A>G	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1589A>G	1.37:g.160100019A>G	ENSP00000354490:p.Glu530Gly					ATP1A2_uc001fvb.2_Missense_Mutation_p.E530G|ATP1A2_uc001fvd.2_Missense_Mutation_p.E266G|ATP1A2_uc009wtg.1_Missense_Mutation_p.E218G	p.E530G	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		12	1721	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		530			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1589A>G	CCDS1196.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	A|A	17.64|17.64	3.439247|3.439247	0.63067|0.63067	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	T;T|.	0.80653|.	-1.4;-1.4|.	4.61|4.61	4.61|4.61	0.57282|0.57282	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.204064|.	0.49305|.	D|.	0.000141|.	T|T	0.50017|0.50017	0.1591|0.1591	L|L	0.49126|0.49126	1.545|1.545	0.58432|0.58432	D|D	0.999997|0.999997	B;B;B|.	0.27853|.	0.191;0.159;0.191|.	B;B;B|.	0.37601|.	0.254;0.164;0.254|.	T|T	0.50389|0.50389	-0.8834|-0.8834	10|5	0.59425|.	D|.	0.04|.	.|.	13.2728|13.2728	0.60170|0.60170	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	530;430;530|.	B1AKY9;F5GXJ7;P50993|.	.;.;AT1A2_HUMAN|.	G|G	530;530;233|241	ENSP00000354490:E530G;ENSP00000376066:E530G|.	ENSP00000354490:E530G|.	E|R	+|+	2|1	0|2	ATP1A2|ATP1A2	158366643|158366643	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.945000|0.945000	0.59286|0.59286	7.367000|7.367000	0.79558|0.79558	1.852000|1.852000	0.53769|0.53769	0.418000|0.418000	0.28097|0.28097	GAG|AGA		0.612	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		4	194	0	0	0	0	4	194				
ASTN1	460	broad.mit.edu	37	1	176838011	176838011	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:176838011T>G	ENST00000367654.3	-	22	3851	c.3640A>C	c.(3640-3642)Acc>Ccc	p.T1214P	ASTN1_ENST00000424564.2_Missense_Mutation_p.T1206P|ASTN1_ENST00000367657.3_Missense_Mutation_p.T1206P|ASTN1_ENST00000361833.2_Missense_Mutation_p.T1206P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1214					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATCGCCAGGTGAATTCCCCA	0.473																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3616-3618)ACC>CCC		astrotactin isoform 1							129.0	126.0	127.0					1																	176838011		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838011T>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3640A>C	1.37:g.176838011T>G	ENSP00000356626:p.Thr1214Pro					ASTN1_uc001glb.1_Missense_Mutation_p.T1206P|ASTN1_uc001gld.1_Missense_Mutation_p.T1206P	p.T1206P	NM_004319	NP_004310	O14525	ASTN1_HUMAN			22	3828	-			1214					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3616A>C		.	.	.	.	.	.	.	.	.	.	T	24.0	4.481942	0.84747	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15487	2.42;2.83;2.83;2.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.03268	-1.1054	10	0.72032	D	0.01	-35.5945	16.0127	0.80413	0.0:0.0:0.0:1.0	.	1206;1206	O14525-2;B1AJS1	.;.	P	1206;1206;1214;1206;1206	ENSP00000356629:T1206P;ENSP00000354536:T1206P;ENSP00000356626:T1214P;ENSP00000395041:T1206P	ENSP00000354536:T1206P	T	-	1	0	ASTN1	175104634	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.985000	0.63845	2.266000	0.75297	0.533000	0.62120	ACC		0.473	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		8	142	0	0	0	0	8	142				
ASPM	259266	broad.mit.edu	37	1	197070075	197070075	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:197070075A>C	ENST00000367409.4	-	18	8562	c.8306T>G	c.(8305-8307)aTt>aGt	p.I2769S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2769					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGGTTAACAATGGCTGCCAT	0.378																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(8305-8307)ATT>AGT		asp (abnormal spindle)-like, microcephaly							106.0	107.0	106.0					1																	197070075		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070075A>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8306T>G	1.37:g.197070075A>C	ENSP00000356379:p.Ile2769Ser					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.I617S	p.I2769S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8563	-			2769					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8306T>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301604	0.23736	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.59502	0.26	4.66	-3.41	0.04839	.	1.507060	0.03772	N	0.259951	T	0.54159	0.1841	L	0.29908	0.895	0.09310	N	0.999991	D;B	0.55385	0.971;0.004	P;B	0.55011	0.766;0.013	T	0.50415	-0.8831	10	0.30854	T	0.27	.	6.6198	0.22796	0.5894:0.1386:0.272:0.0	.	755;2769	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2769;755	ENSP00000356379:I2769S	ENSP00000356376:I755S	I	-	2	0	ASPM	195336698	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.465000	0.22004	-0.816000	0.04340	0.379000	0.24179	ATT		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	190	0	0	0	0	6	190				
PCNXL2	80003	broad.mit.edu	37	1	233388475	233388475	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:233388475T>G	ENST00000258229.9	-	6	2128	c.1894A>C	c.(1894-1896)Agt>Cgt	p.S632R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	632						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCTTAGAACTGTGTCCACTG	0.408																																						uc001hvl.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1894-1896)AGT>CGT		pecanex-like 2							176.0	169.0	171.0					1																	233388475		1899	4123	6022	SO:0001583	missense	80003					integral to membrane		g.chr1:233388475T>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1894A>C	1.37:g.233388475T>G	ENSP00000258229:p.Ser632Arg					PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_5'Flank	p.S632R	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			6	2129	-		all_cancers(173;0.0347)|Prostate(94;0.137)	632					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1894A>C	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	T	3.102	-0.184601	0.06340	.	.	ENSG00000135749	ENST00000258229	T	0.08193	3.12	5.5	-3.59	0.04583	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.11329	0.006	T	0.46275	-0.9203	9	0.19147	T	0.46	.	3.0801	0.06259	0.1078:0.3605:0.3188:0.2129	.	632	A6NKB5	PCX2_HUMAN	R	632	ENSP00000258229:S632R	ENSP00000258229:S632R	S	-	1	0	PCNXL2	231455098	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.206000	0.09398	-0.384000	0.07845	-0.371000	0.07208	AGT		0.408	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		7	161	0	0	0	0	7	161				
ZNF518A	9849	broad.mit.edu	37	10	97919954	97919954	+	RNA	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:97919954A>T	ENST00000534948.1	+	0	4732							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCAAGAAGAAAAGCAACATTG	0.373																																						uc001klp.2		NA																	0				ovary(1)	1						c.(3874-3876)AAA>ATA		zinc finger protein 518							36.0	35.0	35.0					10																	97919954		1851	4080	5931			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97919954A>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919954A>T						ZNF518A_uc001klo.1_Missense_Mutation_p.K762I|ZNF518A_uc001klq.2_Missense_Mutation_p.K1292I|ZNF518A_uc001klr.2_Missense_Mutation_p.K1292I	p.K1292I	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	4732	+		Colorectal(252;0.0815)	1292					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.3875A>T																																																																																					0.373	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		7	23	0	0	0	0	7	23				
EIF3A	8661	broad.mit.edu	37	10	120809363	120809363	+	Missense_Mutation	SNP	G	G	A	rs150064739		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:120809363G>A	ENST00000369144.3	-	17	2735	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	EIF3A_ENST00000541549.1_Missense_Mutation_p.R836W	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCTACGCCGTTCTCGTTCT	0.403																																						uc001ldu.2		NA																	0					0						c.(2608-2610)CGG>TGG		eukaryotic translation initiation factor 3,		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	220.0	217.0	218.0		2608	3.8	0.8	10	dbSNP_134	218	0,8600		0,0,4300	no	missense	EIF3A	NM_003750.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	870/1383	120809363	1,13005	2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120809363G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2608C>T	10.37:g.120809363G>A	ENSP00000358140:p.Arg870Trp					EIF3A_uc010qsu.1_Missense_Mutation_p.R836W|EIF3A_uc009xzg.1_Translation_Start_Site	p.R870W	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	17	2754	-		Lung NSC(174;0.094)|all_lung(145;0.123)	870			Glu-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2608C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221475	0.58560	2.27E-4	0.0	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.35973	1.28;1.28	4.7	3.76	0.43208	.	0.000000	0.34088	U	0.004275	T	0.55970	0.1954	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.59899	-0.7367	10	0.72032	D	0.01	-10.6837	12.3981	0.55397	0.0:0.0:0.6841:0.3159	.	870	Q14152	EIF3A_HUMAN	W	870;836	ENSP00000358140:R870W;ENSP00000438178:R836W	ENSP00000358140:R870W	R	-	1	2	EIF3A	120799353	1.000000	0.71417	0.793000	0.32043	0.993000	0.82548	5.701000	0.68325	1.226000	0.43582	0.655000	0.94253	CGG		0.403	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		103	274	0	0	0	0	103	274				
EIF3A	8661	broad.mit.edu	37	10	120820798	120820798	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:120820798C>A	ENST00000369144.3	-	8	1292	c.1165G>T	c.(1165-1167)Gac>Tac	p.D389Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.D355Y|SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTGTAAAGGTCTTTCACTTCT	0.348																																						uc001ldu.2		NA																	0					0						c.(1165-1167)GAC>TAC		eukaryotic translation initiation factor 3,							76.0	71.0	73.0					10																	120820798		2202	4299	6501	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120820798C>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1165G>T	10.37:g.120820798C>A	ENSP00000358140:p.Asp389Tyr					EIF3A_uc010qsu.1_Missense_Mutation_p.D355Y|SNORA19_uc001ldv.2_5'Flank	p.D389Y	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	8	1311	-		Lung NSC(174;0.094)|all_lung(145;0.123)	389			PCI.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.1165G>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277118	0.40294	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.36340	1.26;1.26	6.08	6.08	0.98989	Proteasome component (PCI) domain (1);	0.000000	0.41500	D	0.000871	T	0.52092	0.1713	M	0.69358	2.11	0.58432	D	0.999998	D	0.53885	0.963	P	0.54629	0.757	T	0.52465	-0.8572	10	0.87932	D	0	-18.3079	14.7773	0.69740	0.0:0.9316:0.0:0.0684	.	389	Q14152	EIF3A_HUMAN	Y	389;355	ENSP00000358140:D389Y;ENSP00000438178:D355Y	ENSP00000358140:D389Y	D	-	1	0	EIF3A	120810788	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.908000	0.63307	2.894000	0.99253	0.591000	0.81541	GAC		0.348	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		19	92	1	0	8.01e-06	8.78e-06	19	92				
ACADSB	36	broad.mit.edu	37	10	124800144	124800144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:124800144G>T	ENST00000358776.4	+	4	480	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	ACADSB_ENST00000368869.4_Nonsense_Mutation_p.E54*|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	156					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	ACATGGAACAGAAGAACAAAA	0.368																																						uc001lhb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(466-468)GAA>TAA		acyl-Coenzyme A dehydrogenase, short/branched	L-Isoleucine(DB00167)						114.0	113.0	113.0					10																	124800144		2203	4300	6503	SO:0001587	stop_gained	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124800144G>T	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.466G>T	10.37:g.124800144G>T	ENSP00000357873:p.Glu156*					ACADSB_uc010qub.1_Nonsense_Mutation_p.E54*	p.E156*	NM_001609	NP_001600	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	4	583	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	156					B4DQ51|Q5SQN6|Q96CX7	Nonsense_Mutation	SNP	ENST00000358776.4	37	c.466G>T	CCDS7634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.74|16.74	3.207505|3.207505	0.58343|0.58343	.|.	.|.	ENSG00000196177|ENSG00000196177	ENST00000368869;ENST00000358776|ENST00000411816	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.234306|.	0.44483|.	D|.	0.000456|.	.|T	.|0.79776	.|0.4504	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77851	.|-0.2434	.|3	0.62326|.	D|.	0.03|.	.|.	19.7785|19.7785	0.96405|0.96405	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	54;156|161	.|.	ENSP00000357873:E156X|.	E|Q	+|+	1|3	0|2	ACADSB|ACADSB	124790134|124790134	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.866000|0.866000	0.49608|0.49608	4.054000|4.054000	0.57434|0.57434	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.368	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		14	135	1	0	2.23e-06	2.47e-06	14	135				
OR5L2	26338	broad.mit.edu	37	11	55594746	55594746	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:55594746T>C	ENST00000378397.1	+	1	52	c.52T>C	c.(52-54)Tca>Cca	p.S18P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCTTGGACTATCAGATGTCCC	0.453										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(52-54)TCA>CCA		olfactory receptor, family 5, subfamily L,							224.0	209.0	214.0					11																	55594746		2200	4293	6493	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594746T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.52T>C	11.37:g.55594746T>C	ENSP00000367650:p.Ser18Pro	HNSCC(27;0.073)					p.S18P	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	52	+		all_epithelial(135;0.208)	18			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.52T>C	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.79	2.936897	0.52972	.	.	ENSG00000205030	ENST00000378397	T	0.00441	7.41	5.31	1.24	0.21308	.	0.584508	0.14338	N	0.325926	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	D	0.53462	0.96	P	0.49451	0.611	T	0.54330	-0.8310	10	0.66056	D	0.02	-6.7357	7.5331	0.27695	0.1266:0.0:0.3227:0.5507	.	18	Q8NGL0	OR5L2_HUMAN	P	18	ENSP00000367650:S18P	ENSP00000367650:S18P	S	+	1	0	OR5L2	55351322	0.000000	0.05858	0.081000	0.20488	0.123000	0.20343	-2.511000	0.00958	0.367000	0.24454	0.509000	0.49947	TCA		0.453	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		17	393	0	0	0	0	17	393				
OR5L2	26338	broad.mit.edu	37	11	55595025	55595025	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:55595025G>A	ENST00000378397.1	+	1	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGGAGTCACTGAGGTCTTCCT	0.502										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(331-333)GAG>AAG		olfactory receptor, family 5, subfamily L,							183.0	170.0	174.0					11																	55595025		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595025G>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.331G>A	11.37:g.55595025G>A	ENSP00000367650:p.Glu111Lys	HNSCC(27;0.073)					p.E111K	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	331	+		all_epithelial(135;0.208)	111			Helical; Name=3; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.331G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.98	3.270788	0.59540	.	.	ENSG00000205030	ENST00000378397	T	0.00414	7.52	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.01800	0.0057	M	0.93106	3.38	0.31229	N	0.696587	D	0.69078	0.997	D	0.66847	0.947	T	0.01925	-1.1246	10	0.87932	D	0	-26.4758	17.8087	0.88609	0.0:0.0:1.0:0.0	.	111	Q8NGL0	OR5L2_HUMAN	K	111	ENSP00000367650:E111K	ENSP00000367650:E111K	E	+	1	0	OR5L2	55351601	0.992000	0.36948	0.906000	0.35671	0.460000	0.32559	3.024000	0.49674	2.613000	0.88420	0.626000	0.83405	GAG		0.502	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		55	223	0	0	0	0	55	223				
OR5T3	390154	broad.mit.edu	37	11	56020106	56020106	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:56020106T>C	ENST00000303059.3	+	1	431	c.431T>C	c.(430-432)cTc>cCc	p.L144P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L144P(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GAATGTTTTCTCTTGGCTGCA	0.403																																						uc010rjd.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(430-432)CTC>CCC		olfactory receptor, family 5, subfamily T,							197.0	188.0	191.0					11																	56020106		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020106T>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.431T>C	11.37:g.56020106T>C	ENSP00000305403:p.Leu144Pro						p.L144P	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	431	+	Esophageal squamous(21;0.00448)		144			Helical; Name=3; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.431T>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.281761	0.40394	.	.	ENSG00000172489	ENST00000303059	T	0.03717	3.83	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000853	T	0.27594	0.0678	H	0.96489	3.83	0.22142	N	0.999331	D	0.76494	0.999	D	0.70227	0.968	T	0.40515	-0.9559	10	0.87932	D	0	.	14.5047	0.67746	0.0:0.0:0.0:1.0	.	144	Q8NGG3	OR5T3_HUMAN	P	144	ENSP00000305403:L144P	ENSP00000305403:L144P	L	+	2	0	OR5T3	55776682	0.771000	0.28555	0.537000	0.28052	0.351000	0.29236	5.375000	0.66173	2.076000	0.62316	0.523000	0.50628	CTC		0.403	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		115	226	0	0	0	0	115	226				
ANKRD42	338699	broad.mit.edu	37	11	82935940	82935940	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:82935940C>G	ENST00000393392.2	+	6	708	c.546C>G	c.(544-546)ttC>ttG	p.F182L	ANKRD42_ENST00000260047.6_Missense_Mutation_p.F209L|ANKRD42_ENST00000531895.1_Missense_Mutation_p.F210L|ANKRD42_ENST00000533342.1_Missense_Mutation_p.F210L	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	182					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GTTTCAAATTCCTAGTCAGTA	0.343																																						uc001ozz.1		NA																	0				skin(1)	1						c.(544-546)TTC>TTG		ankyrin repeat domain 42							84.0	86.0	85.0					11																	82935940		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82935940C>G	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.546C>G	11.37:g.82935940C>G	ENSP00000377051:p.Phe182Leu					ANKRD42_uc010rsv.1_Missense_Mutation_p.F210L|ANKRD42_uc001paa.2_Missense_Mutation_p.F210L|ANKRD42_uc001pab.1_Missense_Mutation_p.F209L	p.F182L	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN			6	968	+			182			ANK 5.		Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.546C>G	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556366	0.65425	.	.	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.67	-0.484	0.12071	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000006	T	0.46054	0.1373	N	0.11560	0.145	0.38012	D	0.934562	D;P;P;D	0.58620	0.957;0.926;0.926;0.983	P;P;P;P	0.58130	0.802;0.591;0.591;0.833	T	0.42799	-0.9430	9	.	.	.	-5.3193	9.9234	0.41478	0.0:0.4867:0.0:0.5133	.	210;474;301;182	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	L	529;209;210;182;210	ENSP00000260047:F209L;ENSP00000434666:F210L;ENSP00000377051:F182L;ENSP00000435790:F210L	.	F	+	3	2	ANKRD42	82613588	0.955000	0.32602	0.999000	0.59377	0.946000	0.59487	-0.057000	0.11768	0.078000	0.16900	-0.140000	0.14226	TTC		0.343	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		3	138	0	0	0	0	3	138				
A2ML1	144568	broad.mit.edu	37	12	9021749	9021749	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:9021749G>C	ENST00000299698.7	+	33	4351	c.4171G>C	c.(4171-4173)Gtg>Ctg	p.V1391L	A2ML1_ENST00000539547.1_Missense_Mutation_p.V900L	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						GCAACCCCTGGTGAAGAAGGT	0.443																																						uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(4171-4173)GTG>CTG		alpha-2-macroglobulin-like 1 precursor							194.0	185.0	188.0					12																	9021749		1847	4097	5944	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9021749G>C	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.4171G>C	12.37:g.9021749G>C	ENSP00000299698:p.Val1391Leu					A2ML1_uc001qva.1_Missense_Mutation_p.V971L|A2ML1_uc010sgm.1_Missense_Mutation_p.V891L|A2ML1_uc001qvb.1_RNA	p.V1391L	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			33	4269	+			1235						Missense_Mutation	SNP	ENST00000299698.7	37	c.4171G>C	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115248	0.56505	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.47869	0.83;0.83;0.83	3.9	3.0	0.34707	Alpha-macroglobulin, receptor-binding (3);	0.000000	0.42053	D	0.000772	T	0.55529	0.1926	L	0.52823	1.66	0.26723	N	0.970738	D	0.54207	0.965	D	0.63877	0.919	T	0.44667	-0.9313	10	0.72032	D	0.01	.	5.9304	0.19136	0.2284:0.0:0.7716:0.0	.	1391	A8K2U0	A2ML1_HUMAN	L	1391;1391;941;900	ENSP00000299698:V1391L;ENSP00000443174:V941L;ENSP00000438292:V900L	ENSP00000299698:V1391L	V	+	1	0	A2ML1	8913016	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.270000	0.51600	1.205000	0.43262	0.655000	0.94253	GTG		0.443	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		13	238	0	0	0	0	13	238				
PXN	5829	broad.mit.edu	37	12	120651735	120651735	+	Silent	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:120651735T>C	ENST00000228307.7	-	11	1560	c.1419A>G	c.(1417-1419)gcA>gcG	p.A473A	PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000458477.2_Silent_p.A306A|PXN_ENST00000267257.7_Silent_p.A487A|PXN_ENST00000424649.2_Silent_p.A439A|PXN_ENST00000536957.1_Silent_p.A471A|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000397506.3_Silent_p.A285A|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	473	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.A439A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACACTTGGGTGCGAACATGT	0.602																																						uc001txt.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|breast(1)	2						c.(1417-1419)GCA>GCG		paxillin isoform 1							34.0	42.0	40.0					12																	120651735		2045	4180	6225	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120651735T>C	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1419A>G	12.37:g.120651735T>C						PXN_uc001txu.2_Silent_p.A285A|PXN_uc001txv.2_Silent_p.A354A|PXN_uc001txx.2_Silent_p.A306A|PXN_uc001txy.2_Silent_p.A439A|PXN_uc001txz.2_RNA	p.A473A	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			11	1550	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		473			LIM zinc-binding 2.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.1419A>G	CCDS44997.1																																																																																				0.602	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		3	10	0	0	0	0	3	10				
GPR12	2835	broad.mit.edu	37	13	27333678	27333678	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:27333678C>T	ENST00000381436.2	-	1	749	c.287G>A	c.(286-288)gGa>gAa	p.G96E	GPR12_ENST00000405846.3_Missense_Mutation_p.G96E			P47775	GPR12_HUMAN	G protein-coupled receptor 12	96					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.G96E(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGTGATGAGTCCAATGCCGGC	0.547																																						uc010aal.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(286-288)GGA>GAA		G protein-coupled receptor 12							91.0	92.0	91.0					13																	27333678		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27333678C>T	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.287G>A	13.37:g.27333678C>T	ENSP00000370844:p.Gly96Glu					GPR12_uc010tdl.1_Intron	p.G96E	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	509	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	96			Helical; Name=2; (Potential).		Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.287G>A	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581054	0.86748	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.71934	-0.61;-0.61	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85566	0.5726	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87282	0.2293	10	0.87932	D	0	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	96	P47775	GPR12_HUMAN	E	96	ENSP00000384932:G96E;ENSP00000370844:G96E	ENSP00000370844:G96E	G	-	2	0	GPR12	26231678	1.000000	0.71417	0.739000	0.30968	0.946000	0.59487	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	GGA		0.547	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			39	75	0	0	0	0	39	75				
PCDH9	5101	broad.mit.edu	37	13	67802500	67802500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:67802500C>A	ENST00000377865.2	-	1	207	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E25*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E25*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.E25*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E25*			Q9HC56	PCDH9_HUMAN	protocadherin 9	25					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E25*(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAAATAAGTTCTTGAGCTATT	0.408																																						uc001vik.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(73-75)GAA>TAA		protocadherin 9 isoform 1 precursor							84.0	82.0	83.0					13																	67802500		2203	4300	6503	SO:0001587	stop_gained	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802500C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.73G>T	13.37:g.67802500C>A	ENSP00000367096:p.Glu25*					PCDH9_uc001vil.2_Nonsense_Mutation_p.E25*|PCDH9_uc010thl.1_Nonsense_Mutation_p.E25*|PCDH9_uc001vin.3_Nonsense_Mutation_p.E25*	p.E25*	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	765	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	25			Extracellular (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Nonsense_Mutation	SNP	ENST00000377865.2	37	c.73G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420846	0.83559	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000332060:E25X	E	-	1	0	PCDH9	66700501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.754000	0.94517	0.650000	0.86243	GAA		0.408	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		39	72	1	0	4.47e-08	4.98e-08	39	72				
TNFSF13B	10673	broad.mit.edu	37	13	108922758	108922758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:108922758G>T	ENST00000375887.4	+	2	588	c.410G>T	c.(409-411)gGt>gTt	p.G137V	TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.G137V|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.G137V	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	137					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.G137V(1)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	GCCGTTCAGGGTCCAGAAGAA	0.463																																						uc001vqr.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(409-411)GGT>GTT		tumor necrosis factor superfamily, member 13b							89.0	89.0	89.0					13																	108922758		2203	4300	6503	SO:0001583	missense	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108922758G>T	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.410G>T	13.37:g.108922758G>T	ENSP00000365048:p.Gly137Val					TNFSF13B_uc010agj.2_Missense_Mutation_p.G137V	p.G137V	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		2	677	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		137			Extracellular (Potential).		E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	ENST00000375887.4	37	c.410G>T	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	G	9.313	1.055960	0.19907	.	.	ENSG00000102524	ENST00000430559;ENST00000375887;ENST00000542136	T;T;T	0.47869	0.83;0.83;0.83	5.02	-0.888	0.10583	.	2.126880	0.01522	N	0.018384	T	0.33323	0.0859	N	0.19112	0.55	0.18873	N	0.999987	B;B	0.22983	0.078;0.004	B;B	0.26202	0.067;0.008	T	0.20773	-1.0265	10	0.42905	T	0.14	-0.8869	4.6031	0.12363	0.5604:0.1817:0.2579:0.0	.	137;137	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	V	137	ENSP00000389540:G137V;ENSP00000365048:G137V;ENSP00000445334:G137V	ENSP00000365048:G137V	G	+	2	0	TNFSF13B	107720759	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.557000	0.05985	-0.094000	0.12374	-0.137000	0.14449	GGT		0.463	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			18	64	1	0	1.34e-09	1.5e-09	18	64				
NYNRIN	57523	broad.mit.edu	37	14	24884881	24884881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:24884881G>A	ENST00000382554.3	+	9	4244	c.3926G>A	c.(3925-3927)tGc>tAc	p.C1309Y		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1309					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.C1309Y(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACGTTCGTCTGCATCCACATG	0.617																																						uc001wpf.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(3925-3927)TGC>TAC		hypothetical protein LOC57523							185.0	192.0	190.0					14																	24884881		2147	4248	6395	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884881G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3926G>A	14.37:g.24884881G>A	ENSP00000371994:p.Cys1309Tyr						p.C1309Y	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4244	+			1309					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3926G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500877	0.44455	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	4.93	4.93	0.64822	Ribonuclease H-like (1);	.	.	.	.	T	0.15869	0.0382	N	0.24115	0.695	0.30638	N	0.756776	D	0.61080	0.989	P	0.53954	0.738	T	0.01639	-1.1306	9	0.72032	D	0.01	.	15.6876	0.77424	0.0:0.0:1.0:0.0	.	1309	Q9P2P1	NYNRI_HUMAN	Y	1309	ENSP00000371994:C1309Y	ENSP00000371994:C1309Y	C	+	2	0	NYNRIN	23954721	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.315000	0.59172	2.551000	0.86045	0.655000	0.94253	TGC		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			129	147	0	0	0	0	129	147				
LRFN5	145581	broad.mit.edu	37	14	42357171	42357171	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:42357171A>C	ENST00000298119.4	+	3	2532	c.1343A>C	c.(1342-1344)cAa>cCa	p.Q448P	LRFN5_ENST00000554120.1_Missense_Mutation_p.Q448P|LRFN5_ENST00000554171.1_Missense_Mutation_p.Q448P	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	448	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.Q448P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CGTATGTTTCAAATCCAGTAC	0.323										HNSCC(30;0.082)																												uc001wvm.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1342-1344)CAA>CCA		leucine rich repeat and fibronectin type III							36.0	37.0	37.0					14																	42357171		2202	4299	6501	SO:0001583	missense	145581					integral to membrane		g.chr14:42357171A>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1343A>C	14.37:g.42357171A>C	ENSP00000298119:p.Gln448Pro	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.Q448P	p.Q448P	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2541	+			448			Extracellular (Potential).|Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1343A>C	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214483	0.39102	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.69926	-0.44;0.46;0.46	5.4	5.4	0.78164	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000045	T	0.73345	0.3575	M	0.67625	2.065	0.80722	D	1	P;B	0.36412	0.552;0.226	P;B	0.46718	0.525;0.178	T	0.76044	-0.3103	10	0.66056	D	0.02	.	13.6708	0.62424	1.0:0.0:0.0:0.0	.	448;448	G3V364;Q96NI6	.;LRFN5_HUMAN	P	448	ENSP00000298119:Q448P;ENSP00000451897:Q448P;ENSP00000451067:Q448P	ENSP00000298119:Q448P	Q	+	2	0	LRFN5	41426921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.165000	0.68154	0.460000	0.39030	CAA		0.323	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		27	36	0	0	0	0	27	36				
SIX6	4990	broad.mit.edu	37	14	60976178	60976178	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:60976178T>C	ENST00000327720.5	+	1	510	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	21					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TGTGAGACCCTGGAAGAGAGC	0.662																																						uc001xfa.3		NA																	0					0						c.(61-63)CTG>CCG		SIX homeobox 6							40.0	47.0	45.0					14																	60976178		2203	4300	6503	SO:0001583	missense	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60976178T>C	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.62T>C	14.37:g.60976178T>C	ENSP00000328596:p.Leu21Pro						p.L21P	NM_007374	NP_031400	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	1	241	+			21					Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	c.62T>C	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997620	0.54147	.	.	ENSG00000184302	ENST00000327720	D	0.97352	-4.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.99032	0.9669	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99334	1.0910	10	0.87932	D	0	.	15.2098	0.73214	0.0:0.0:0.0:1.0	.	21	O95475	SIX6_HUMAN	P	21	ENSP00000328596:L21P	ENSP00000328596:L21P	L	+	2	0	SIX6	60045931	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.839000	0.86812	2.371000	0.80710	0.533000	0.62120	CTG		0.662	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			10	107	0	0	0	0	10	107				
AKAP5	9495	broad.mit.edu	37	14	64935861	64935861	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:64935861T>A	ENST00000394718.4	+	2	1127	c.749T>A	c.(748-750)cTt>cAt	p.L250H	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.L250H|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	250					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GCAAGCCCACTTGAAACTTCA	0.418																																						uc001xhd.3		NA																	0					0						c.(748-750)CTT>CAT		A-kinase anchor protein 5							89.0	97.0	94.0					14																	64935861		2203	4300	6503	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64935861T>A	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.749T>A	14.37:g.64935861T>A	ENSP00000378207:p.Leu250His					ZBTB25_uc001xhc.2_Intron	p.L250H	NM_004857	NP_004848	P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	2	1127	+			250					A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.749T>A	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040181	0.35989	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.25579	1.79;1.79	6.16	1.07	0.20283	.	0.939411	0.08831	N	0.887351	T	0.20536	0.0494	L	0.56769	1.78	0.09310	N	1	B	0.30406	0.278	B	0.18871	0.023	T	0.25745	-1.0123	10	0.48119	T	0.1	-17.9438	3.3621	0.07190	0.3812:0.3118:0.0:0.307	.	250	P24588	AKAP5_HUMAN	H	250	ENSP00000378207:L250H;ENSP00000315615:L250H	ENSP00000315615:L250H	L	+	2	0	AKAP5	64005614	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.376000	0.07465	0.175000	0.19841	0.528000	0.53228	CTT		0.418	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			135	93	0	0	0	0	135	93				
AHNAK2	113146	broad.mit.edu	37	14	105412488	105412488	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:105412488G>A	ENST00000333244.5	-	7	9419	c.9300C>T	c.(9298-9300)ccC>ccT	p.P3100P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3100						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACGTCGGGGGCCGTCA	0.632																																						uc010axc.1		NA																	0				ovary(1)	1						c.(9298-9300)CCC>CCT		AHNAK nucleoprotein 2							124.0	117.0	120.0					14																	105412488		1922	4100	6022	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412488G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9300C>T	14.37:g.105412488G>A						AHNAK2_uc001ypx.2_Silent_p.P3000P	p.P3100P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9420	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3100					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9300C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	292	0	0	0	0	9	292				
TRIM69	140691	broad.mit.edu	37	15	45047248	45047248	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:45047248A>G	ENST00000559390.1	+	3	1085	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000329464.4_Missense_Mutation_p.M53V|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558329.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	53	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGACCCACTGATGCTAAGCTG	0.458																																					Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2		NA																	0					0						c.(157-159)ATG>GTG		tripartite motif-containing 69 isoform a							164.0	135.0	145.0					15																	45047248		2198	4298	6496	SO:0001583	missense	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45047248A>G	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.157A>G	15.37:g.45047248A>G	ENSP00000453177:p.Met53Val					TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.M53V|TRIM69_uc001zuh.1_Intron	p.M53V	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	3	1052	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	53			Necessary for nuclear localization (By similarity).|RING-type.		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.157A>G	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313877	0.60414	.	.	ENSG00000185880	ENST00000329464	T	0.07216	3.21	5.58	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.165937	0.42682	D	0.000677	T	0.04679	0.0127	N	0.01076	-1.035	0.28552	N	0.911582	P	0.49961	0.93	P	0.53102	0.718	T	0.39663	-0.9603	10	0.17369	T	0.5	.	10.5148	0.44883	0.8376:0.1623:0.0:0.0	.	53	Q86WT6	TRI69_HUMAN	V	53	ENSP00000332284:M53V	ENSP00000332284:M53V	M	+	1	0	TRIM69	42834540	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.196000	0.58407	2.137000	0.66172	0.455000	0.32223	ATG		0.458	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			18	151	0	0	0	0	18	151				
SEMA6D	80031	broad.mit.edu	37	15	48062786	48062786	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:48062786G>A	ENST00000316364.5	+	19	2465	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T	SEMA6D_ENST00000389428.3_Missense_Mutation_p.A601T|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A614T|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A633T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A657T|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A614T|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A614T|SEMA6D_ENST00000536845.2_Missense_Mutation_p.A676T|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A620T	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	676					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)		TGTTTTGGGGGCATTCATTGC	0.468																																						uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(2026-2028)GCA>ACA		semaphorin 6D isoform 4 precursor							147.0	140.0	143.0					15																	48062786		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48062786G>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.2026G>A	15.37:g.48062786G>A	ENSP00000324857:p.Ala676Thr					SEMA6D_uc001zvw.2_Missense_Mutation_p.A614T|SEMA6D_uc001zvy.2_Missense_Mutation_p.A676T|SEMA6D_uc001zvz.2_Missense_Mutation_p.A620T|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.A614T|SEMA6D_uc001zwc.2_Missense_Mutation_p.A601T	p.A676T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2386	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	676			Helical; (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2026G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456353	0.84317	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.65975	2.015	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;0.999;0.999;0.999	T	0.78532	-0.2168	10	0.54805	T	0.06	.	20.0735	0.97734	0.0:0.0:1.0:0.0	.	601;620;676;614	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	T	614;676;676;657;633;620;614;601	ENSP00000442040:A614T;ENSP00000446152:A676T;ENSP00000324857:A676T;ENSP00000374084:A657T;ENSP00000374083:A633T;ENSP00000346786:A620T;ENSP00000350770:A614T;ENSP00000374079:A601T	ENSP00000324857:A676T	A	+	1	0	SEMA6D	45850078	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	9.473000	0.97714	2.745000	0.94114	0.655000	0.94253	GCA		0.468	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		5	211	0	0	0	0	5	211				
UNC45A	55898	broad.mit.edu	37	15	91491052	91491052	+	Silent	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:91491052A>G	ENST00000418476.2	+	11	1567	c.1527A>G	c.(1525-1527)ggA>ggG	p.G509G	UNC45A_ENST00000394275.2_Silent_p.G494G	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	509					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTTCGGCTGGAGGGACTGACT	0.577																																						uc002bqg.2		NA																	0				ovary(2)	2						c.(1525-1527)GGA>GGG		smooth muscle cell associated protein-1 isoform							77.0	61.0	66.0					15																	91491052		2198	4298	6496	SO:0001819	synonymous_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91491052A>G		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1527A>G	15.37:g.91491052A>G						UNC45A_uc002bqd.2_Silent_p.G494G|UNC45A_uc010uqr.1_5'UTR|UNC45A_uc002bqi.2_5'Flank	p.G509G	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		11	1867	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		509					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	ENST00000418476.2	37	c.1527A>G	CCDS10367.1																																																																																				0.577	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		4	54	0	0	0	0	4	54				
CDR2	1039	broad.mit.edu	37	16	22361124	22361124	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:22361124T>A	ENST00000268383.2	-	3	546	c.239A>T	c.(238-240)cAt>cTt	p.H80L		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	80						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACCTTTGCATGTTGTTCGTT	0.428																																						uc002dkn.2		NA																	0				skin(1)	1						c.(238-240)CAT>CTT		cerebellar degeneration-related protein 2							167.0	144.0	152.0					16																	22361124		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22361124T>A	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.239A>T	16.37:g.22361124T>A	ENSP00000268383:p.His80Leu						p.H80L	NM_001802	NP_001793	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	3	547	-			80			Potential.		A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.239A>T	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567130	0.86439	.	.	ENSG00000140743	ENST00000268383	T	0.28895	1.59	5.95	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	M	0.79693	2.465	0.58432	D	0.999998	D	0.63046	0.992	P	0.60068	0.868	T	0.50259	-0.8849	10	0.20046	T	0.44	-14.476	11.9734	0.53075	0.0:0.0673:0.0:0.9327	.	80	Q01850	CDR2_HUMAN	L	80	ENSP00000268383:H80L	ENSP00000268383:H80L	H	-	2	0	CDR2	22268625	1.000000	0.71417	0.944000	0.38274	0.969000	0.65631	7.613000	0.82986	1.078000	0.41014	0.533000	0.62120	CAT		0.428	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			63	148	0	0	0	0	63	148				
VPS35	55737	broad.mit.edu	37	16	46717472	46717472	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:46717472T>C	ENST00000299138.7	-	2	108	c.50A>G	c.(49-51)gAt>gGt	p.D17G		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	17					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TATGGCTTCATCCAAGAGCTT	0.458																																						uc002eef.3		NA																	0					0						c.(49-51)GAT>GGT		vacuolar protein sorting 35							88.0	71.0	77.0					16																	46717472		2203	4298	6501	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46717472T>C	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.50A>G	16.37:g.46717472T>C	ENSP00000299138:p.Asp17Gly					VPS35_uc002eee.2_5'UTR	p.D17G	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			2	149	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	17					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.50A>G	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843385	0.71488	.	.	ENSG00000069329	ENST00000299138	T	0.44881	0.91	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.48986	1.54	0.80722	D	1	B	0.19200	0.034	B	0.21917	0.037	T	0.21314	-1.0249	10	0.42905	T	0.14	-27.5362	14.3227	0.66496	0.0:0.0:0.0:1.0	.	17	Q96QK1	VPS35_HUMAN	G	17	ENSP00000299138:D17G	ENSP00000299138:D17G	D	-	2	0	VPS35	45274973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.972000	0.88022	2.183000	0.69458	0.455000	0.32223	GAT		0.458	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			20	78	0	0	0	0	20	78				
RBL2	5934	broad.mit.edu	37	16	53515593	53515593	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:53515593C>T	ENST00000262133.6	+	21	3232	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1032					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGGATGCTCCTCCACTCTCT	0.333																																						uc002ehi.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(3094-3096)CCT>CTT		retinoblastoma-like 2 (p130)							55.0	48.0	50.0					16																	53515593		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53515593C>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3095C>T	16.37:g.53515593C>T	ENSP00000262133:p.Pro1032Leu					RBL2_uc002ehj.2_Missense_Mutation_p.P742L|RBL2_uc010vgw.1_Intron	p.P1032L	NM_005611	NP_005602	Q08999	RBL2_HUMAN			21	3213	+			1032					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.3095C>T	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316545	0.40996	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.94897	-3.55	5.37	5.37	0.77165	Cyclin-like (2);	0.050342	0.85682	D	0.000000	D	0.93719	0.7993	L	0.39898	1.24	0.80722	D	1	P;D	0.65815	0.736;0.995	B;P	0.52554	0.272;0.702	D	0.91141	0.4945	10	0.13853	T	0.58	-9.403	19.484	0.95022	0.0:1.0:0.0:0.0	.	742;1032	E9PG04;Q08999	.;RBL2_HUMAN	L	1032;742	ENSP00000262133:P1032L	ENSP00000262133:P1032L	P	+	2	0	RBL2	52073094	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.057000	0.76669	2.669000	0.90835	0.650000	0.86243	CCT		0.333	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		4	37	0	0	0	0	4	37				
CRK	1398	broad.mit.edu	37	17	1340132	1340132	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:1340132C>T	ENST00000300574.2	-	2	699	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	CRK_ENST00000398970.5_Missense_Mutation_p.V187I|CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	187	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TACTTCTCGACGTAAGGGACT	0.577																																						uc002fsl.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(559-561)GTC>ATC		v-crk sarcoma virus CT10 oncogene homolog							147.0	126.0	133.0					17																	1340132		2203	4300	6503	SO:0001583	missense	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1340132C>T	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.559G>A	17.37:g.1340132C>T	ENSP00000300574:p.Val187Ile					CRK_uc002fsm.2_Missense_Mutation_p.V187I	p.V187I	NM_016823	NP_058431	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	2	692	-			187			SH3 1.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	ENST00000300574.2	37	c.559G>A	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851039	0.91277	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	T;T	0.52754	0.65;1.68	6.04	6.04	0.98038	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	L	0.60904	1.88	0.80722	D	1	D;D	0.60160	0.987;0.978	P;P	0.58210	0.835;0.688	T	0.61530	-0.7044	10	0.59425	D	0.04	-22.6382	18.073	0.89417	0.0:1.0:0.0:0.0	.	187;187	P46108-2;P46108	.;CRK_HUMAN	I	187	ENSP00000300574:V187I;ENSP00000381942:V187I	ENSP00000300574:V187I	V	-	1	0	CRK	1286882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.691000	0.84191	2.873000	0.98535	0.561000	0.74099	GTC		0.577	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		25	128	0	0	0	0	25	128				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:7578271T>A	ENST00000269305.4	-	6	767	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000420246.2_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)CAT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>T	17.37:g.7578271T>A	ENSP00000269305:p.His193Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L	p.H193L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	772	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752987	0.49362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	M	0.92738	3.34	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97204	0.9866	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193L;ENSP00000352610:H193L;ENSP00000269305:H193L;ENSP00000398846:H193L;ENSP00000391127:H193L;ENSP00000391478:H193L;ENSP00000425104:H61L;ENSP00000423862:H100L	ENSP00000269305:H193L	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		44	30	0	0	0	0	44	30				
SLFN5	162394	broad.mit.edu	37	17	33592377	33592377	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:33592377G>T	ENST00000299977.4	+	5	2294	c.2146G>T	c.(2146-2148)Ggt>Tgt	p.G716C	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	716					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.G716C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CCGCAATGCAGGTCCAATAGC	0.507																																						uc002hjf.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2146-2148)GGT>TGT		schlafen family member 5							97.0	97.0	97.0					17																	33592377		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33592377G>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2146G>T	17.37:g.33592377G>T	ENSP00000299977:p.Gly716Cys					SLFN5_uc010wcg.1_3'UTR	p.G716C	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	5	2263	+		Ovarian(249;0.17)	716					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.2146G>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	g	7.517	0.655966	0.14580	.	.	ENSG00000166750	ENST00000299977	D	0.82619	-1.63	3.14	1.02	0.19986	.	0.763835	0.10609	N	0.654709	T	0.67392	0.2888	N	0.19112	0.55	0.09310	N	1	B	0.28760	0.221	B	0.23852	0.049	T	0.56866	-0.7908	10	0.56958	D	0.05	.	4.5053	0.11885	0.1345:0.2292:0.6363:0.0	.	716	Q08AF3	SLFN5_HUMAN	C	716	ENSP00000299977:G716C	ENSP00000299977:G716C	G	+	1	0	SLFN5	30616490	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.138000	0.16016	0.153000	0.19213	-0.252000	0.11476	GGT		0.507	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		34	91	1	0	2.08e-15	2.39e-15	34	91				
SLFN11	91607	broad.mit.edu	37	17	33679727	33679727	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:33679727A>G	ENST00000394566.1	-	7	2626	c.2354T>C	c.(2353-2355)gTg>gCg	p.V785A	SLFN11_ENST00000308377.4_Missense_Mutation_p.V785A	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	785					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.V785A(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATTTGCTCCACAGTCAAGTA	0.488																																						uc010ctp.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2353-2355)GTG>GCG		schlafen family member 11							65.0	63.0	64.0					17																	33679727		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679727A>G	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2354T>C	17.37:g.33679727A>G	ENSP00000378067:p.Val785Ala					SLFN11_uc010ctq.2_Missense_Mutation_p.V785A|SLFN11_uc002hjh.3_Missense_Mutation_p.V785A|SLFN11_uc002hjg.3_Missense_Mutation_p.V785A|SLFN11_uc010ctr.2_Missense_Mutation_p.V785A	p.V785A	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2796	-		Ovarian(249;0.17)	785					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2354T>C	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	a	8.386	0.838740	0.16891	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.81579	-1.51;-1.51	4.0	-1.66	0.08265	.	3.885990	0.00714	N	0.000856	T	0.65565	0.2703	N	0.22421	0.69	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.51857	-0.8652	10	0.09338	T	0.73	.	6.2419	0.20795	0.318:0.5146:0.0:0.1674	.	785	Q7Z7L1	SLN11_HUMAN	A	785	ENSP00000312402:V785A;ENSP00000378067:V785A	ENSP00000312402:V785A	V	-	2	0	SLFN11	30703840	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.387000	0.07361	-0.106000	0.12110	0.533000	0.62120	GTG		0.488	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		13	46	0	0	0	0	13	46				
C17orf98	388381	broad.mit.edu	37	17	36997562	36997562	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:36997562G>A	ENST00000398575.4	-	1	146	c.81C>T	c.(79-81)cgC>cgT	p.R27R		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	27								p.R27R(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GCCCATAAGCGCGGGCAGCGG	0.637																																						uc002hqv.2		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(79-81)CGC>CGT		hypothetical protein LOC388381							43.0	46.0	45.0					17																	36997562		2025	4201	6226	SO:0001819	synonymous_variant	388381							g.chr17:36997562G>A	AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.81C>T	17.37:g.36997562G>A							p.R27R	NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN			1	81	-			27						Silent	SNP	ENST00000398575.4	37	c.81C>T	CCDS42310.1																																																																																				0.637	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465		4	85	0	0	0	0	4	85				
IKZF3	22806	broad.mit.edu	37	17	37922445	37922445	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:37922445G>A	ENST00000346872.3	-	8	1189	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G	IKZF3_ENST00000583368.1_Silent_p.G129G|IKZF3_ENST00000439167.2_Silent_p.G303G|IKZF3_ENST00000346243.3_Silent_p.G298G|IKZF3_ENST00000377945.3_Silent_p.G242G|IKZF3_ENST00000394189.2_Silent_p.G194G|IKZF3_ENST00000467757.1_Silent_p.G320G|IKZF3_ENST00000535189.1_Silent_p.G342G|IKZF3_ENST00000351680.3_Silent_p.G337G|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000350532.3_Silent_p.G337G|IKZF3_ENST00000377958.2_Silent_p.G289G|IKZF3_ENST00000439016.2_Silent_p.G281G|IKZF3_ENST00000377952.2_Silent_p.G155G|IKZF3_ENST00000377944.3_Silent_p.G233G	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	376					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G376G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGGAGAGAGGCCTCTCTCAG	0.532																																						uc002hsu.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	lung(2)|kidney(2)|skin(2)	6						c.(1126-1128)GGC>GGT		aiolos isoform 1							205.0	183.0	190.0					17																	37922445		2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922445G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1128C>T	17.37:g.37922445G>A						IKZF3_uc002htd.2_Silent_p.G342G|IKZF3_uc010cwd.2_Silent_p.G233G|IKZF3_uc002hsv.2_Silent_p.G303G|IKZF3_uc010cwe.2_Silent_p.G242G|IKZF3_uc010cwf.2_Silent_p.G194G|IKZF3_uc010cwg.2_Silent_p.G155G|IKZF3_uc002hsw.2_Silent_p.G337G|IKZF3_uc002hsx.2_Silent_p.G320G|IKZF3_uc002hsy.2_Silent_p.G337G|IKZF3_uc002hsz.2_Silent_p.G281G|IKZF3_uc002hta.2_Silent_p.G298G|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.G289G|IKZF3_uc002htc.2_Silent_p.G129G|IKZF3_uc010wel.1_Silent_p.G129G	p.G376G	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1190	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		376					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.1128C>T	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	G	8.393	0.840273	0.16891	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.72	0.19	0.15125	.	.	.	.	.	T	0.56171	0.1967	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49643	-0.8918	4	.	.	.	-6.7472	9.5434	0.39266	0.4153:0.0:0.5847:0.0	.	.	.	.	V	291;330	.	.	A	-	2	0	IKZF3	35175971	0.919000	0.31177	0.992000	0.48379	0.992000	0.81027	0.127000	0.15790	0.072000	0.16694	0.655000	0.94253	GCC		0.532	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		15	199	0	0	0	0	15	199				
SUPT4H1	6827	broad.mit.edu	37	17	56429452	56429452	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:56429452G>A	ENST00000225504.3	-	1	111	c.45C>T	c.(43-45)gcC>gcT	p.A15A	SUPT4H1_ENST00000577396.1_5'UTR|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000580947.1_Silent_p.A15A|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|SUPT4H1_ENST00000581540.1_5'Flank|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	15	Interaction with SUPT5H.				chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGCAAACAGGCCCGCAGAT	0.632																																					NSCLC(25;723 896 19867 29219 40028)	uc002iwe.1		NA																	0				skin(2)	2						c.(43-45)GCC>GCT		suppressor of Ty 4 homolog 1							60.0	53.0	55.0					17																	56429452		2203	4300	6503	SO:0001819	synonymous_variant	6827				chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:56429452G>A	U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"""suppressor of Ty (S.cerevisiae) 4 homolog 1"""	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.45C>T	17.37:g.56429452G>A						uc010dct.1_RNA|uc010dcu.1_RNA|uc002ivz.2_RNA|uc010dcv.1_RNA|uc002iwa.2_RNA|uc002iwb.2_RNA|uc002iwc.2_RNA|SUPT4H1_uc002iwd.1_RNA	p.A15A	NM_003168	NP_003159	P63272	SPT4H_HUMAN			1	112	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		15			Interaction with SUPT5H.		B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	Silent	SNP	ENST00000225504.3	37	c.45C>T	CCDS11606.1																																																																																				0.632	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444000.1	NM_003168		15	78	0	0	0	0	15	78				
TLK2	11011	broad.mit.edu	37	17	60657496	60657496	+	Silent	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:60657496T>C	ENST00000326270.9	+	16	1645	c.1377T>C	c.(1375-1377)aaT>aaC	p.N459N	TLK2_ENST00000582809.1_Silent_p.N288N|TLK2_ENST00000542523.1_Silent_p.N405N|TLK2_ENST00000346027.5_Silent_p.N437N|TLK2_ENST00000343388.7_Silent_p.N405N	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	459					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N459N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CAACGCTAAATGACAGATATT	0.383																																						uc010ddp.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	stomach(1)|kidney(1)	2						c.(1375-1377)AAT>AAC		tousled-like kinase 2 isoform A							173.0	147.0	156.0					17																	60657496		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60657496T>C	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1377T>C	17.37:g.60657496T>C						TLK2_uc002izx.3_Silent_p.N285N|TLK2_uc002izz.3_Silent_p.N437N|TLK2_uc002jaa.3_Silent_p.N405N|TLK2_uc010wpd.1_Silent_p.N405N	p.N459N	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			16	1645	+			459					D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1377T>C																																																																																					0.383	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		16	63	0	0	0	0	16	63				
RAB37	326624	broad.mit.edu	37	17	72741163	72741163	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:72741163T>C	ENST00000392613.5	+	8	562	c.506T>C	c.(505-507)tTc>tCc	p.F169S	RAB37_ENST00000340415.3_Missense_Mutation_p.F162S|RAB37_ENST00000402449.4_Missense_Mutation_p.F162S|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000392614.4_Missense_Mutation_p.F174S|RAB37_ENST00000392612.3_Missense_Mutation_p.F132S|RAB37_ENST00000528438.1_Missense_Mutation_p.F142S|RAB37_ENST00000392615.5_Missense_Mutation_p.F137S|RAB37_ENST00000392610.1_Missense_Mutation_p.F169S	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	169					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGTGTTCCCTTCCTGGAGACC	0.627											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jlk.2		NA																	0				ovary(1)	1						c.(505-507)TTC>TCC		RAB37, member RAS oncogene family isoform 2							86.0	76.0	80.0					17																	72741163		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741163T>C	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.506T>C	17.37:g.72741163T>C	ENSP00000376389:p.Phe169Ser		OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.F162S|RAB37_uc002jld.2_Missense_Mutation_p.F162S|RAB37_uc010wrb.1_Missense_Mutation_p.F137S|RAB37_uc010wrc.1_Missense_Mutation_p.F174S|RAB37_uc010wrd.1_Missense_Mutation_p.F137S|RAB37_uc010wre.1_Missense_Mutation_p.F132S|RAB37_uc002jll.3_RNA	p.F169S	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN			8	562	+			169					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.506T>C	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661105	0.88154	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612;ENST00000392610	D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.993;0.994;0.997;0.995;0.997;0.991	D	0.91549	0.5255	10	0.87932	D	0	.	14.3728	0.66852	0.0:0.0:0.0:1.0	.	132;137;174;162;169;162	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2	.;.;.;.;RAB37_HUMAN;.	S	162;162;162;142;137;174;169;132;169	ENSP00000341354:F162S;ENSP00000383934:F162S;ENSP00000432086:F142S;ENSP00000376391:F137S;ENSP00000376390:F174S;ENSP00000376389:F169S;ENSP00000376388:F132S;ENSP00000376387:F169S	ENSP00000341354:F162S	F	+	2	0	RAB37	70252758	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.697000	0.68295	2.100000	0.63781	0.448000	0.29417	TTC		0.627	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		5	72	0	0	0	0	5	72				
TJP3	27134	broad.mit.edu	37	19	3738943	3738943	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:3738943G>A	ENST00000541714.2	+	13	1904	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	TJP3_ENST00000589378.1_Missense_Mutation_p.R490H|TJP3_ENST00000262968.9_Missense_Mutation_p.R514H|TJP3_ENST00000587686.1_Missense_Mutation_p.R500H|TJP3_ENST00000539908.2_Missense_Mutation_p.R445H|TJP3_ENST00000382008.3_Missense_Mutation_p.R495H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	481	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTACATCCGCACTCACTTT	0.647																																						uc010xhv.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1540-1542)CGC>CAC		tight junction protein 3							67.0	64.0	65.0					19																	3738943		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3738943G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1442G>A	19.37:g.3738943G>A	ENSP00000439278:p.Arg481His					TJP3_uc010xhs.1_Missense_Mutation_p.R481H|TJP3_uc010xht.1_Missense_Mutation_p.R445H|TJP3_uc010xhu.1_Missense_Mutation_p.R490H|TJP3_uc010xhw.1_Missense_Mutation_p.R500H	p.R514H	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1541	+			495			SH3.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1541G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788868	0.90367	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.37	4.37	0.52481	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.58482	-0.7629	10	0.87932	D	0	.	16.1253	0.81392	0.0:0.0:1.0:0.0	.	500;514;495;481	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	481;445;495;514	ENSP00000439278:R481H;ENSP00000439991:R445H;ENSP00000371438:R495H;ENSP00000262968:R514H	ENSP00000262968:R514H	R	+	2	0	TJP3	3689943	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	9.492000	0.97957	2.263000	0.75096	0.555000	0.69702	CGC		0.647	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			4	97	0	0	0	0	4	97				
FCER2	2208	broad.mit.edu	37	19	7755094	7755094	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:7755094C>A	ENST00000346664.5	-	10	891	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	FCER2_ENST00000360067.4_Missense_Mutation_p.D226Y|FCER2_ENST00000597921.1_Missense_Mutation_p.D227Y	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	227	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)	p.D227Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCCTTCAGGTCCAAGTTCCGA	0.617																																						uc002mhn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(679-681)GAC>TAC		Fc fragment of IgE, low affinity II, receptor							84.0	80.0	81.0					19																	7755094		2203	4300	6503	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7755094C>A	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.679G>T	19.37:g.7755094C>A	ENSP00000264072:p.Asp227Tyr					FCER2_uc010xjs.1_Missense_Mutation_p.D149Y|FCER2_uc010xjt.1_Missense_Mutation_p.D149Y|FCER2_uc002mhm.2_Missense_Mutation_p.D227Y	p.D227Y	NM_002002	NP_001993	P06734	FCER2_HUMAN			10	863	-			227			C-type lectin.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000346664.5	37	c.679G>T	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	c	2.697	-0.271953	0.05716	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.20200	2.09;2.09	3.46	-3.7	0.04437	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.817929	0.09919	U	0.738727	T	0.16428	0.0395	L	0.29908	0.895	0.09310	N	0.999999	B	0.32876	0.388	P	0.44561	0.453	T	0.42344	-0.9457	10	0.72032	D	0.01	.	0.691	0.00891	0.1673:0.3275:0.1646:0.3407	.	227	P06734	FCER2_HUMAN	Y	227;226	ENSP00000264072:D227Y;ENSP00000353178:D226Y	ENSP00000264072:D227Y	D	-	1	0	FCER2	7661094	0.230000	0.23740	0.044000	0.18714	0.018000	0.09664	-0.169000	0.09911	-1.046000	0.03246	-0.896000	0.02909	GAC		0.617	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		9	59	1	0	0.00448238	0.00466078	9	59				
MUC16	94025	broad.mit.edu	37	19	9060492	9060492	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:9060492G>A	ENST00000397910.4	-	3	27157	c.26954C>T	c.(26953-26955)gCt>gTt	p.A8985V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8987	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAGAGGAAGCAGGTATGGT	0.498																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(26953-26955)GCT>GTT		mucin 16							187.0	176.0	180.0					19																	9060492		2030	4204	6234	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060492G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26954C>T	19.37:g.9060492G>A	ENSP00000381008:p.Ala8985Val						p.A8985V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27158	-			8987			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26954C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	9.391	1.075442	0.20227	.	.	ENSG00000181143	ENST00000397910	T	0.23950	1.88	2.62	-5.24	0.02789	.	.	.	.	.	T	0.12603	0.0306	N	0.24115	0.695	.	.	.	B	0.20988	0.05	B	0.23574	0.047	T	0.32295	-0.9912	8	0.87932	D	0	.	0.3549	0.00355	0.2423:0.1576:0.2134:0.3867	.	8985	B5ME49	.	V	8985	ENSP00000381008:A8985V	ENSP00000381008:A8985V	A	-	2	0	MUC16	8921492	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-1.900000	0.01599	-1.589000	0.01625	0.306000	0.20318	GCT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	183	0	0	0	0	29	183				
SIGLEC5	8778	broad.mit.edu	37	19	52129338	52129338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:52129338C>G	ENST00000534261.2	-	9	1810	c.1411G>C	c.(1411-1413)Ggg>Cgg	p.G471R	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.G471R|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G471R|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G471R|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G471R			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	471					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G471R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCTGGTCTCCCAGCTGCTTGC	0.547																																						uc002pxe.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(2)|breast(1)|central_nervous_system(1)	4						c.(1411-1413)GGG>CGG		sialic acid binding Ig-like lectin 5 precursor							141.0	125.0	130.0					19																	52129338		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52129338C>G	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1411G>C	19.37:g.52129338C>G	ENSP00000473238:p.Gly471Arg						p.G471R	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	8	1550	-		all_neural(266;0.0726)	471			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000534261.2	37	c.1411G>C	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.619522	0.00828	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.56776	0.44;0.44	3.12	-5.65	0.02459	.	1.610720	0.04266	N	0.341166	T	0.22859	0.0552	N	0.03154	-0.405	0.09310	N	1	B	0.25521	0.128	B	0.23275	0.045	T	0.13683	-1.0500	10	0.12766	T	0.61	.	6.3459	0.21349	0.0:0.1977:0.1549:0.6475	.	471	O15389	SIGL5_HUMAN	R	471	ENSP00000222107:G471R;ENSP00000415200:G471R	ENSP00000222107:G471R	G	-	1	0	SIGLEC5	56821150	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.393000	0.01055	-1.191000	0.02695	-0.806000	0.03193	GGG		0.547	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		11	120	0	0	0	0	11	120				
ZNF845	91664	broad.mit.edu	37	19	53854664	53854664	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:53854664G>A	ENST00000595091.1	+	5	955	c.736G>A	c.(736-738)Gat>Aat	p.D246N	ZNF845_ENST00000458035.1_Missense_Mutation_p.D246N			Q96IR2	ZN845_HUMAN	zinc finger protein 845	246					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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATATAAATGTGATGTGTGTGG	0.368																																						uc010ydv.1		NA																	0					0						c.(736-738)GAT>AAT		zinc finger protein 845							114.0	94.0	100.0					19																	53854664		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854664G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.736G>A	19.37:g.53854664G>A	ENSP00000470005:p.Asp246Asn					ZNF845_uc010ydw.1_Missense_Mutation_p.D246N	p.D246N	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	853	+			246			C2H2-type 2.			Missense_Mutation	SNP	ENST00000595091.1	37	c.736G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136579	0.06711	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.19532	2.14	1.91	-0.667	0.11395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17831	0.0428	L	0.37507	1.11	0.09310	N	1	P	0.49447	0.924	P	0.55303	0.773	T	0.11084	-1.0602	9	0.02654	T	1	.	2.4918	0.04612	0.3335:0.0:0.3119:0.3546	.	246	Q96IR2	ZN845_HUMAN	N	246	ENSP00000388311:D246N	ENSP00000412086:D246N	D	+	1	0	ZNF845	58546476	0.000000	0.05858	0.170000	0.22879	0.242000	0.25591	-3.685000	0.00393	-0.444000	0.07170	0.205000	0.17691	GAT		0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	75	0	0	0	0	8	75				
NLRP8	126205	broad.mit.edu	37	19	56466469	56466469	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:56466469C>A	ENST00000291971.3	+	3	1116	c.1045C>A	c.(1045-1047)Ccc>Acc	p.P349T	NLRP8_ENST00000590542.1_Missense_Mutation_p.P349T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	349	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P349T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTGAAATGTCCCTCTCTCGT	0.453																																						uc002qmh.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1045-1047)CCC>ACC		NLR family, pyrin domain containing 8							86.0	86.0	86.0					19																	56466469		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466469C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1045C>A	19.37:g.56466469C>A	ENSP00000291971:p.Pro349Thr					NLRP8_uc010etg.2_Missense_Mutation_p.P349T	p.P349T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1116	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	349			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1045C>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054580	0.19907	.	.	ENSG00000179709	ENST00000291971	T	0.77877	-1.13	2.04	-0.304	0.12788	.	.	.	.	.	T	0.79545	0.4464	L	0.50993	1.605	0.09310	N	1	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.976	T	0.64807	-0.6320	9	0.34782	T	0.22	.	2.6157	0.04902	0.2815:0.5444:0.0:0.1741	.	349;349	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	349	ENSP00000291971:P349T	ENSP00000291971:P349T	P	+	1	0	NLRP8	61158281	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.162000	0.10012	0.003000	0.14656	-0.426000	0.05927	CCC		0.453	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		13	168	1	0	0.000219431	0.000232208	13	168				
ZNF135	7694	broad.mit.edu	37	19	58579671	58579671	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:58579671G>C	ENST00000313434.5	+	5	1920	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	ZNF135_ENST00000506786.1_Missense_Mutation_p.E565Q|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Missense_Mutation_p.E619Q|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.E607Q|ZNF135_ENST00000401053.4_Missense_Mutation_p.E631Q	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	607					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAGCCCTATGAGTGTCACGA	0.557																																						uc010yhq.1		NA																	0				ovary(1)	1						c.(1855-1857)GAG>CAG		zinc finger protein 135 isoform 2							95.0	88.0	90.0					19																	58579671		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579671G>C	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1819G>C	19.37:g.58579671G>C	ENSP00000321406:p.Glu607Gln					ZNF135_uc002qre.2_Missense_Mutation_p.E607Q|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.E565Q|ZNF135_uc002qrg.2_Missense_Mutation_p.E577Q|ZNF135_uc010yhr.1_Missense_Mutation_p.E428Q	p.E619Q	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1951	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	619					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1855G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.849|0.849	-0.739281|-0.739281	0.03088|0.03088	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T|.	0.07444|.	3.19;3.19;3.19;3.19;3.19|.	3.37|3.37	0.991|0.991	0.19813|0.19813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.17492|0.17492	0.0420|0.0420	N|N	0.10629|0.10629	0.01|0.01	0.09310|0.09310	N|N	1|1	P;P|.	0.38455|.	0.632;0.484|.	P;B|.	0.48738|.	0.588;0.403|.	T|T	0.29610|0.29610	-1.0006|-1.0006	9|5	0.30078|.	T|.	0.28|.	.|.	7.9842|7.9842	0.30202|0.30202	0.0:0.1835:0.6411:0.1754|0.0:0.1835:0.6411:0.1754	.|.	619;607|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	Q|I	631;607;607;619;565|624	ENSP00000441410:E631Q;ENSP00000444828:E607Q;ENSP00000321406:E607Q;ENSP00000422074:E619Q;ENSP00000427691:E565Q|.	ENSP00000321406:E607Q|.	E|M	+|+	1|3	0|0	ZNF135|ZNF135	63271483|63271483	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.037000|0.037000	0.13140|0.13140	-2.051000|-2.051000	0.01402|0.01402	0.203000|0.203000	0.20529|0.20529	-0.321000|-0.321000	0.08615|0.08615	GAG|ATG		0.557	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		5	167	0	0	0	0	5	167				
CDKL4	344387	broad.mit.edu	37	2	39456583	39456583	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:39456583C>G	ENST00000395035.3	-	1	90	c.91G>C	c.(91-93)Gct>Cct	p.A31P	CDKL4_ENST00000378803.1_Missense_Mutation_p.A31P			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTTTTAACAGCTACTACTTGT	0.323																																						uc002rrm.2		NA																	0				ovary(1)	1						c.(91-93)GCT>CCT		cyclin-dependent kinase-like 4							110.0	114.0	112.0					2																	39456583		2203	4297	6500	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39456583C>G		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.91G>C	2.37:g.39456583C>G	ENSP00000378476:p.Ala31Pro					CDKL4_uc010fal.1_Missense_Mutation_p.A31P	p.A31P	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			1	91	-		all_hematologic(82;0.248)	31			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.91G>C		.	.	.	.	.	.	.	.	.	.	C	17.40	3.379758	0.61845	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.73897	-0.79;-0.79	5.34	5.34	0.76211	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	0.47852	D	0.000203	D	0.90906	0.7142	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93432	0.6786	10	0.87932	D	0	-19.0946	16.5693	0.84607	0.0:1.0:0.0:0.0	.	31;31	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	P	31	ENSP00000368080:A31P;ENSP00000378476:A31P	ENSP00000368080:A31P	A	-	1	0	CDKL4	39310087	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	6.785000	0.75089	2.776000	0.95493	0.650000	0.86243	GCT		0.323	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		4	199	0	0	0	0	4	199				
MMADHC	27249	broad.mit.edu	37	2	150426656	150426656	+	Silent	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:150426656A>T	ENST00000428879.1	-	7	1227	c.723T>A	c.(721-723)acT>acA	p.T241T	MMADHC_ENST00000303319.5_Silent_p.T241T|MMADHC_ENST00000422782.2_Silent_p.T275T			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	241					cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						TTTCAAAAAGAGTGTTGTTTG	0.343																																						uc002txb.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(721-723)ACT>ACA		methylmalonic aciduria (cobalamin deficiency)							66.0	63.0	64.0					2																	150426656		2203	4300	6503	SO:0001819	synonymous_variant	27249					mitochondrion		g.chr2:150426656A>T	BC023995	CCDS2189.1	2q23	2011-05-12	2009-01-08	2009-01-08	ENSG00000168288	ENSG00000168288			25221	protein-coding gene	gene with protein product		611935	"""chromosome 2 open reading frame 25"""	C2orf25		18385497	Standard	NM_015702		Approved	CL25022, cblD	uc002txc.3	Q9H3L0	OTTHUMG00000155558	ENST00000428879.1:c.723T>A	2.37:g.150426656A>T						MMADHC_uc002txc.2_Silent_p.T241T|MMADHC_uc010fnu.2_Silent_p.T275T	p.T241T	NM_015702	NP_056517	Q9H3L0	MMAD_HUMAN			7	1228	-			241					B2R895|D3DP91|O95891	Silent	SNP	ENST00000428879.1	37	c.723T>A	CCDS2189.1																																																																																				0.343	MMADHC-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332312.1	NM_015702		12	60	0	0	0	0	12	60				
NEB	4703	broad.mit.edu	37	2	152580789	152580789	+	Silent	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:152580789G>C	ENST00000172853.10	-	8	744	c.597C>G	c.(595-597)acC>acG	p.T199T	NEB_ENST00000397345.3_Silent_p.T199T|NEB_ENST00000427231.2_Silent_p.T199T|NEB_ENST00000604864.1_Silent_p.T199T|NEB_ENST00000603639.1_Silent_p.T199T|NEB_ENST00000409198.1_Silent_p.T199T			P20929	NEBU_HUMAN	nebulin	199					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)		TGAACATGGCGGTGTTCTTAA	0.453																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(595-597)ACC>ACG		nebulin isoform 3							127.0	139.0	135.0					2																	152580789		1986	4160	6146	SO:0001819	synonymous_variant	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.chr2:152580789G>C	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.597C>G	2.37:g.152580789G>C							p.T199T	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	8	788	-			199			Nebulin 4.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.597C>G																																																																																					0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	31	0	0	0	0	7	31				
DCAF17	80067	broad.mit.edu	37	2	172309702	172309702	+	Silent	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:172309702G>T	ENST00000375255.3	+	6	933	c.606G>T	c.(604-606)ggG>ggT	p.G202G	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Silent_p.G202G	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	202					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G202G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CACTTGTAGGGATTCTAGAGA	0.328																																						uc002ugx.2		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(604-606)GGG>GGT		DDB1 and CUL4 associated factor 17 isoform 1							112.0	101.0	104.0					2																	172309702		1832	4097	5929	SO:0001819	synonymous_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172309702G>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.606G>T	2.37:g.172309702G>T						DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Silent_p.G202G|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_5'UTR	p.G202G	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN			6	835	+			202			Helical; (Potential).		B2RTW5|Q53TN3|Q9H908	Silent	SNP	ENST00000375255.3	37	c.606G>T	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701320	0.48307	.	.	ENSG00000115827	ENST00000429466	.	.	.	5.67	0.717	0.18196	.	.	.	.	.	T	0.56659	0.2000	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54410	-0.8298	5	0.54805	T	0.06	-11.5491	4.6576	0.12626	0.4466:0.1573:0.396:0.0	.	.	.	.	Y	23	.	ENSP00000389290:D23Y	D	+	1	0	DCAF17	172017948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.878000	0.28126	0.332000	0.23536	0.585000	0.79938	GAT		0.328	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		6	112	1	0	8.13e-05	8.62e-05	6	112				
FAM126B	285172	broad.mit.edu	37	2	201881853	201881853	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:201881853C>G	ENST00000418596.3	-	5	381	c.194G>C	c.(193-195)cGt>cCt	p.R65P		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	65						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTCTGAGCTACGATAGAGCTC	0.423																																						uc002uws.3		NA																	0				ovary(1)	1						c.(193-195)CGT>CCT		hypothetical protein LOC285172							69.0	70.0	70.0					2																	201881853		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201881853C>G	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.194G>C	2.37:g.201881853C>G	ENSP00000393667:p.Arg65Pro					FAM126B_uc002uwu.2_5'UTR|FAM126B_uc002uwv.2_Missense_Mutation_p.R65P|FAM126B_uc002uww.1_Missense_Mutation_p.R65P	p.R65P	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			5	382	-			65					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.194G>C	CCDS2335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.305028|5.305028	0.95601|0.95601	.|.	.|.	ENSG00000155744|ENSG00000155744	ENST00000418596;ENST00000452799;ENST00000453765|ENST00000446678	T;T;T|T	0.79653|0.79554	-1.29;-1.29;-1.29|-1.28	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89615|0.89615	0.6766|0.6766	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	D|D	0.86640|0.86640	0.1891|0.1891	10|7	0.72032|0.20519	D|T	0.01|0.43	-7.2044|-7.2044	19.8487|19.8487	0.96730|0.96730	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65|.	Q8IXS8|.	F126B_HUMAN|.	P|L	65|84	ENSP00000393667:R65P;ENSP00000401905:R65P;ENSP00000408374:R65P|ENSP00000412139:V84L	ENSP00000393667:R65P|ENSP00000286181:V84L	R|V	-|-	2|1	0|0	FAM126B|FAM126B	201590098|201590098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.678000|7.678000	0.84035|0.84035	2.748000|2.748000	0.94277|0.94277	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.423	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		8	81	0	0	0	0	8	81				
B3GNT7	93010	broad.mit.edu	37	2	232263354	232263354	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:232263354C>T	ENST00000287590.5	+	2	1185	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	308					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGCCGGCAGCCTGGCCCGGC	0.652																																						uc002vrs.2		NA																	0					0						c.(922-924)AGC>AGT		UDP-GlcNAc:betaGal							23.0	29.0	27.0					2																	232263354		1972	4152	6124	SO:0001819	synonymous_variant	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263354C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.924C>T	2.37:g.232263354C>T							p.S308S	NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	1104	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	308			Lumenal (Potential).		B3KWY4|B7WNP0	Silent	SNP	ENST00000287590.5	37	c.924C>T	CCDS46540.1																																																																																				0.652	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		13	15	0	0	0	0	13	15				
PTPRT	11122	broad.mit.edu	37	20	40743873	40743873	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr20:40743873G>T	ENST00000373187.1	-	22	3064	c.3065C>A	c.(3064-3066)gCa>gAa	p.A1022E	PTPRT_ENST00000373193.3_Missense_Mutation_p.A1025E|PTPRT_ENST00000356100.2_Missense_Mutation_p.A1031E|PTPRT_ENST00000373201.1_Missense_Mutation_p.A1012E|PTPRT_ENST00000373184.1_Missense_Mutation_p.A1032E|PTPRT_ENST00000373190.1_Missense_Mutation_p.A1021E|PTPRT_ENST00000373198.4_Missense_Mutation_p.A1041E			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1022	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.A1044E(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACGTATTCTGCCAGGGGCTC	0.522																																						uc002xkg.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(8)|ovary(7)|lung(5)	20						c.(3064-3066)GCA>GAA		protein tyrosine phosphatase, receptor type, T							169.0	169.0	169.0					20																	40743873		1991	4158	6149	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40743873G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3065C>A	20.37:g.40743873G>T	ENSP00000362283:p.Ala1022Glu					PTPRT_uc010ggj.2_Missense_Mutation_p.A1041E|PTPRT_uc010ggi.2_Missense_Mutation_p.A225E	p.A1022E	NM_007050	NP_008981	O14522	PTPRT_HUMAN			22	3249	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1022			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3065C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204760	0.95033	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.65	5.65	0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.89914	0.6853	L	0.58969	1.84	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70227	0.96;0.968	D	0.90293	0.4324	10	0.87932	D	0	.	19.7084	0.96083	0.0:0.0:1.0:0.0	.	1044;1022	O14522-1;O14522	.;PTPRT_HUMAN	E	1021;1022;1025;1031;1044;1032;1012	ENSP00000362286:A1021E;ENSP00000362283:A1022E;ENSP00000362289:A1025E;ENSP00000348408:A1031E;ENSP00000362294:A1044E;ENSP00000362280:A1032E;ENSP00000362297:A1012E	ENSP00000348408:A1031E	A	-	2	0	PTPRT	40177287	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.845000	0.99498	2.663000	0.90544	0.561000	0.74099	GCA		0.522	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			30	143	1	0	4.23e-30	4.99e-30	30	143				
SETD2	29072	broad.mit.edu	37	3	47164649	47164649	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:47164649G>A	ENST00000409792.3	-	3	1519	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	493					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTACAGTCCCGATCAGATTTA	0.383			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(1477-1479)CGG>TGG		SET domain containing 2							71.0	67.0	68.0					3																	47164649		2089	4006	6095	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164649G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1477C>T	3.37:g.47164649G>A	ENSP00000386759:p.Arg493Trp					SETD2_uc003cqv.2_Missense_Mutation_p.R482W	p.R493W	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1530	-		Acute lymphoblastic leukemia(5;0.0169)	493					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.1477C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641914	0.47153	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	T;T	0.18960	2.18;2.18	5.0	2.16	0.27623	.	.	.	.	.	T	0.20333	0.0489	N	0.24115	0.695	0.36911	D	0.890878	D;D	0.71674	0.998;0.995	P;P	0.51170	0.661;0.661	T	0.11966	-1.0566	9	0.87932	D	0	.	10.5616	0.45148	0.0:0.1108:0.4048:0.4845	.	493;493	F2Z317;Q9BYW2	.;SETD2_HUMAN	W	493;493;493;449	ENSP00000386759:R493W;ENSP00000416401:R449W	ENSP00000386759:R493W	R	-	1	2	SETD2	47139653	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	1.818000	0.39012	0.352000	0.24053	0.655000	0.94253	CGG		0.383	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		3	46	0	0	0	0	3	46				
PBRM1	55193	broad.mit.edu	37	3	52651513	52651513	+	Missense_Mutation	SNP	T	T	A	rs201580633		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:52651513T>A	ENST00000296302.7	-	14	1584	c.1583A>T	c.(1582-1584)aAt>aTt	p.N528I	PBRM1_ENST00000356770.4_Missense_Mutation_p.N496I|PBRM1_ENST00000409114.3_Missense_Mutation_p.N543I|PBRM1_ENST00000337303.4_Missense_Mutation_p.N528I|PBRM1_ENST00000409767.1_Missense_Mutation_p.N543I|PBRM1_ENST00000410007.1_Missense_Mutation_p.N528I|PBRM1_ENST00000409057.1_Missense_Mutation_p.N528I|PBRM1_ENST00000394830.3_Missense_Mutation_p.N528I			Q86U86	PB1_HUMAN	polybromo 1	528					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N528fs*41(2)|p.N496fs*41(1)|p.N528I(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGAACAACATTGAATAAGAT	0.348			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		4	Deletion - Frameshift(3)|Substitution - Missense(1)		kidney(3)|upper_aerodigestive_tract(1)	kidney(136)|breast(4)	140						c.(1582-1584)AAT>ATT		polybromo 1 isoform 4							80.0	80.0	80.0					3																	52651513		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651513T>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1583A>T	3.37:g.52651513T>A	ENSP00000296302:p.Asn528Ile					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N528I|PBRM1_uc003der.2_Missense_Mutation_p.N496I|PBRM1_uc003det.2_Missense_Mutation_p.N543I|PBRM1_uc003deu.2_Missense_Mutation_p.N543I|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N528I|PBRM1_uc010hmk.1_Missense_Mutation_p.N528I|PBRM1_uc003dey.2_Missense_Mutation_p.N528I|PBRM1_uc003dez.1_Missense_Mutation_p.N528I|PBRM1_uc003dfb.1_Missense_Mutation_p.N441I|PBRM1_uc003dfc.2_5'Flank	p.N528I	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	1595	-			528					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1583A>T		.	.	.	.	.	.	.	.	.	.	T	20.6	4.021491	0.75275	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.84	5.84	0.93424	Bromodomain (3);	0.150483	0.64402	D	0.000013	T	0.20251	0.0487	N	0.08118	0	0.58432	D	0.999999	D;P;D;D;P;P;D;P;P	0.63046	0.992;0.95;0.978;0.982;0.785;0.768;0.969;0.939;0.939	P;P;P;P;B;B;P;P;P	0.59703	0.862;0.805;0.743;0.815;0.289;0.44;0.693;0.743;0.679	T	0.18713	-1.0328	10	0.41790	T	0.15	-26.4922	16.2167	0.82231	0.0:0.0:0.0:1.0	.	528;528;528;528;543;543;528;496;528	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	I	496;528;528;528;528;528;543;543;528;487	ENSP00000349213:N496I;ENSP00000378307:N528I;ENSP00000296302:N528I;ENSP00000338302:N528I;ENSP00000386593:N528I;ENSP00000386529:N528I;ENSP00000386643:N543I;ENSP00000386601:N543I;ENSP00000387775:N528I;ENSP00000397662:N487I	ENSP00000296302:N528I	N	-	2	0	PBRM1	52626553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.578000	0.46051	2.231000	0.72958	0.533000	0.62120	AAT		0.348	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		33	51	0	0	0	0	33	51				
CADPS	8618	broad.mit.edu	37	3	62388773	62388773	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:62388773G>T	ENST00000383710.4	-	29	4214	c.3865C>A	c.(3865-3867)Cta>Ata	p.L1289I	CADPS_ENST00000357948.3_Missense_Mutation_p.L1210I|CADPS_ENST00000283269.9_Missense_Mutation_p.L1250I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1289	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATCCTAATTAGTGTTTTCAAC	0.373																																						uc003dll.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(3865-3867)CTA>ATA		Ca2+-dependent secretion activator isoform 1							101.0	95.0	97.0					3																	62388773		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62388773G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3865C>A	3.37:g.62388773G>T	ENSP00000373215:p.Leu1289Ile					CADPS_uc003dlj.1_Missense_Mutation_p.L244I|CADPS_uc003dlk.1_Missense_Mutation_p.L737I|CADPS_uc003dlm.2_Missense_Mutation_p.L1250I|CADPS_uc003dln.2_Missense_Mutation_p.L1210I	p.L1289I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	29	4225	-		Lung SC(41;0.0452)	1289			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3865C>A	CCDS46858.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.6|22.6|22.6	4.310826|4.310826|4.310826	0.81358|0.81358|0.81358	.|.|.	.|.|.	ENSG00000163618|ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000466621	.|T;T;T|T	.|0.32988|0.32753	.|1.43;1.43;1.43|1.44	5.5|5.5|5.5	5.5|5.5|5.5	0.81552|0.81552|0.81552	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000002|.	T|T|T	0.46288|0.46288|0.46288	0.1385|0.1385|0.1385	L|L|L	0.46567|0.46567|0.46567	1.45|1.45|1.45	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;D;D;P|.	.|0.69078|.	.|0.145;0.974;0.997;0.95|.	.|B;D;D;P|.	.|0.72625|.	.|0.31;0.969;0.978;0.652|.	T|T|T	0.24297|0.24297|0.24297	-1.0164|-1.0164|-1.0164	5|10|7	.|0.40728|0.54805	.|T|T	.|0.16|0.06	.|.|.	19.7596|19.7596|19.7596	0.96309|0.96309|0.96309	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|1210;1250;1289;1294|.	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.|.;.;CAPS1_HUMAN;.|.	Q|I|N	280|1295;1289;1210;1250|189	.|ENSP00000373215:L1289I;ENSP00000350632:L1210I;ENSP00000283269:L1250I|ENSP00000417568:T189N	.|ENSP00000283269:L1250I|ENSP00000417568:T189N	H|L|T	-|-|-	3|1|2	2|2|0	CADPS|CADPS|CADPS	62363813|62363813|62363813	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.341000|9.341000|9.341000	0.97041|0.97041|0.97041	2.746000|2.746000|2.746000	0.94184|0.94184|0.94184	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	CAC|CTA|ACT		0.373	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		14	35	1	0	0.00185496	0.00194817	14	35				
CCDC14	64770	broad.mit.edu	37	3	123633809	123633809	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:123633809C>T	ENST00000488653.2	-	13	2769	c.2679G>A	c.(2677-2679)gtG>gtA	p.V893V	CCDC14_ENST00000489746.1_Silent_p.V693V|CCDC14_ENST00000310351.4_Silent_p.V733V|CCDC14_ENST00000433542.2_Silent_p.V852V|CCDC14_ENST00000485727.1_Silent_p.V693V|CCDC14_ENST00000483247.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	893					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TATTGCCTTTCACTTGAAGGC	0.458																																						uc011bjx.1		NA																	0					0						c.(2677-2679)GTG>GTA		coiled-coil domain containing 14							126.0	112.0	117.0					3																	123633809		2203	4300	6503	SO:0001819	synonymous_variant	64770					centrosome		g.chr3:123633809C>T	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2679G>A	3.37:g.123633809C>T						CCDC14_uc003egv.3_Silent_p.V534V|CCDC14_uc003egx.3_Silent_p.V693V|CCDC14_uc010hrt.2_Silent_p.V852V|CCDC14_uc003egy.3_Silent_p.V693V|CCDC14_uc003egz.2_3'UTR	p.V893V	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	13	2770	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	893					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37	c.2679G>A																																																																																					0.458	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		11	48	0	0	0	0	11	48				
PLCH1	23007	broad.mit.edu	37	3	155301387	155301387	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:155301387C>T	ENST00000340059.7	-	5	608	c.609G>A	c.(607-609)gaG>gaA	p.E203E	PLCH1_ENST00000460012.1_Silent_p.E185E|PLCH1_ENST00000414191.1_Silent_p.E185E|PLCH1_ENST00000447496.2_Silent_p.E203E|PLCH1_ENST00000334686.6_Silent_p.E185E|PLCH1_ENST00000494598.1_Silent_p.E203E	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	203	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E185E(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACACAGAACTCTTCAAATG	0.358																																						uc011bok.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	skin(3)|ovary(1)	4						c.(607-609)GAG>GAA		phospholipase C eta 1 isoform a							75.0	76.0	76.0					3																	155301387		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155301387C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.609G>A	3.37:g.155301387C>T						PLCH1_uc011boj.1_Silent_p.E203E|PLCH1_uc011bol.1_Silent_p.E185E	p.E203E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	886	-			203			EF-hand 2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.609G>A	CCDS46939.1																																																																																				0.358	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		35	58	0	0	0	0	35	58				
ZBBX	79740	broad.mit.edu	37	3	167000124	167000124	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:167000124T>C	ENST00000392766.2	-	19	2379	c.2039A>G	c.(2038-2040)gAt>gGt	p.D680G	ZBBX_ENST00000392764.1_Missense_Mutation_p.D651G|ZBBX_ENST00000455345.2_Missense_Mutation_p.D719G|ZBBX_ENST00000307529.5_Missense_Mutation_p.D719G|ZBBX_ENST00000392767.2_Missense_Mutation_p.D680G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	680						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D719G(1)|p.D680G(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCAGTAATATCAATATATTC	0.383																																						uc003fep.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(2)	2						c.(2038-2040)GAT>GGT		zinc finger, B-box domain containing							97.0	91.0	93.0					3																	167000124		1827	4092	5919	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167000124T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2039A>G	3.37:g.167000124T>C	ENSP00000376519:p.Asp680Gly					ZBBX_uc011bpc.1_Missense_Mutation_p.D719G|ZBBX_uc003feq.2_Missense_Mutation_p.D651G	p.D680G	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			19	2362	-			680					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2039A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	13.29	2.191622	0.38707	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.33654	1.59;1.59;1.72;1.72;1.4	5.28	4.09	0.47781	.	0.264679	0.32488	N	0.006033	T	0.50633	0.1627	L	0.55481	1.735	0.31794	N	0.629313	D;D	0.76494	0.999;0.999	D;P	0.66084	0.941;0.874	T	0.60393	-0.7272	10	0.87932	D	0	-13.2714	10.4771	0.44672	0.0:0.0:0.1634:0.8366	.	719;680	A8MT70-2;A8MT70	.;ZBBX_HUMAN	G	680;680;719;719;651	ENSP00000376519:D680G;ENSP00000376520:D680G;ENSP00000390232:D719G;ENSP00000305065:D719G;ENSP00000376517:D651G	ENSP00000305065:D719G	D	-	2	0	ZBBX	168482818	1.000000	0.71417	0.618000	0.29105	0.206000	0.24218	3.736000	0.55052	0.809000	0.34255	0.528000	0.53228	GAT		0.383	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		18	162	0	0	0	0	18	162				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			20	122	0	0	0	0	20	122				
BEND4	389206	broad.mit.edu	37	4	42145872	42145872	+	Silent	SNP	G	G	A	rs574971489		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:42145872G>A	ENST00000502486.1	-	3	1206	c.627C>T	c.(625-627)aaC>aaT	p.N209N	BEND4_ENST00000504360.1_Silent_p.N205N	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	209								p.N205N(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCTGTCTTTCGTTGTAACTTG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22510	0.0		0.0	False		,,,				2504	0.0					uc003gwn.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(625-627)AAC>AAT		BEN domain containing 4 isoform a							92.0	91.0	91.0					4																	42145872		1923	4147	6070	SO:0001819	synonymous_variant	389206							g.chr4:42145872G>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.627C>T	4.37:g.42145872G>A						BEND4_uc003gwm.2_Silent_p.N209N|BEND4_uc011byy.1_Silent_p.N209N	p.N209N	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1207	-			209					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	c.627C>T	CCDS47048.1																																																																																				0.443	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		11	38	0	0	0	0	11	38				
FAT4	79633	broad.mit.edu	37	4	126369690	126369690	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:126369690G>T	ENST00000394329.3	+	9	7532	c.7519G>T	c.(7519-7521)Ggt>Tgt	p.G2507C	FAT4_ENST00000335110.5_Missense_Mutation_p.G805C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2507	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G2507C(2)		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						TTCTCTTTCGGGTAGAAATTC	0.423																																						uc003ifj.3		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(7519-7521)GGT>TGT		FAT tumor suppressor homolog 4 precursor							68.0	71.0	70.0					4																	126369690		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369690G>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.7519G>T	4.37:g.126369690G>T	ENSP00000377862:p.Gly2507Cys					FAT4_uc011cgp.1_Missense_Mutation_p.G805C|FAT4_uc003ifi.1_5'UTR	p.G2507C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	7519	+			2507			Extracellular (Potential).|Cadherin 24.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7519G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821282	0.90873	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.54479	0.57;0.57	5.92	5.92	0.95590	Cadherin (4);Cadherin-like (1);	0.000000	0.35013	U	0.003506	T	0.79106	0.4390	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81695	-0.0816	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	805;2507	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	C	2507;805	ENSP00000377862:G2507C;ENSP00000335169:G805C	ENSP00000335169:G805C	G	+	1	0	FAT4	126589140	1.000000	0.71417	0.450000	0.26969	0.991000	0.79684	9.666000	0.98612	2.822000	0.97130	0.650000	0.86243	GGT		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	129	1	0	2.18e-05	2.35e-05	9	129				
NPY5R	4889	broad.mit.edu	37	4	164272513	164272513	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:164272513C>A	ENST00000515560.1	+	4	2610	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y	NPY5R_ENST00000338566.3_Missense_Mutation_p.S363Y|NPY5R_ENST00000506953.1_Missense_Mutation_p.S363Y			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	363					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.S363Y(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAAAGAGATCTCGAAGTGTT	0.358																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(6)|skin(1)	7						c.(1087-1089)TCT>TAT		neuropeptide Y receptor Y5							107.0	104.0	105.0					4																	164272513		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272513C>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1088C>A	4.37:g.164272513C>A	ENSP00000423917:p.Ser363Tyr						p.S363Y	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	1270	+	all_hematologic(180;0.166)	Prostate(90;0.109)	363			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1088C>A	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295218	0.60086	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.72942	-0.7;-0.7;-0.7	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.226336	0.30446	N	0.009608	D	0.84479	0.5481	M	0.80183	2.485	0.48288	D	0.999622	D	0.71674	0.998	D	0.71414	0.973	D	0.86776	0.1976	10	0.62326	D	0.03	.	18.061	0.89377	0.0:1.0:0.0:0.0	.	363	Q15761	NPY5R_HUMAN	Y	363	ENSP00000339377:S363Y;ENSP00000423917:S363Y;ENSP00000423474:S363Y	ENSP00000339377:S363Y	S	+	2	0	NPY5R	164491963	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.926000	0.70070	2.433000	0.82419	0.467000	0.42956	TCT		0.358	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		16	110	1	0	0.000422831	0.000445198	16	110				
PRDM9	56979	broad.mit.edu	37	5	23510109	23510109	+	Missense_Mutation	SNP	G	G	T	rs199795687		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:23510109G>T	ENST00000296682.3	+	4	456	c.274G>T	c.(274-276)Gat>Tat	p.D92Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	92					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)			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						AGAAGATTCTGATGAAGAATG	0.433										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(274-276)GAT>TAT		PR domain containing 9							91.0	87.0	88.0					5																	23510109		1883	4117	6000	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.chr5:23510109G>T	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.274G>T	5.37:g.23510109G>T	ENSP00000296682:p.Asp92Tyr	HNSCC(3;0.000094)					p.D92Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			4	456	+			92					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.274G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185532	0.57909	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.13901	2.55;2.86	3.79	3.79	0.43588	.	.	.	.	.	T	0.35624	0.0938	M	0.75615	2.305	0.29939	N	0.82123	D	0.76494	0.999	D	0.79784	0.993	T	0.14559	-1.0468	9	0.87932	D	0	-10.1899	11.3346	0.49496	0.0:0.0:1.0:0.0	.	92	Q9NQV7	PRDM9_HUMAN	Y	92	ENSP00000425471:D92Y;ENSP00000296682:D92Y	ENSP00000296682:D92Y	D	+	1	0	PRDM9	23545866	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.710000	0.47169	2.130000	0.65690	0.609000	0.83330	GAT		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		11	85	1	0	2.81e-09	3.14e-09	11	85				
FYB	2533	broad.mit.edu	37	5	39110492	39110492	+	Splice_Site	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:39110492C>G	ENST00000351578.6	-	16	2454		c.e16-1		FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACATAACCATCTACGAAGGAA	0.308																																						uc003jls.2		NA																	0				ovary(2)	2						c.e15-1		FYN binding protein (FYB-120/130) isoform 2							49.0	46.0	47.0					5																	39110492		1804	4069	5873	SO:0001630	splice_region_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39110492C>G	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2264-1G>C	5.37:g.39110492C>G						FYB_uc003jlt.2_Splice_Site_p.Y801_splice|FYB_uc003jlu.2_Splice_Site_p.Y755_splice|FYB_uc011cpl.1_Splice_Site_p.Y811_splice	p.Y755_splice	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		15	2331	-	all_lung(31;0.000343)							A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Splice_Site	SNP	ENST00000351578.6	37	c.2264_splice	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826241	0.32237	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5358	0.61646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FYB	39146249	1.000000	0.71417	0.998000	0.56505	0.295000	0.27426	3.946000	0.56644	2.637000	0.89404	0.563000	0.77884	.		0.308	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	Intron	5	49	0	0	0	0	5	49				
CARD6	84674	broad.mit.edu	37	5	40854367	40854367	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:40854367A>T	ENST00000254691.5	+	3	3132	c.2933A>T	c.(2932-2934)cAg>cTg	p.Q978L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	978	Pro-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGTCAGTCCCAGCCCTCCCAA	0.532																																						uc003jmg.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(2932-2934)CAG>CTG		caspase recruitment domain family, member 6							240.0	260.0	253.0					5																	40854367		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854367A>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2933A>T	5.37:g.40854367A>T	ENSP00000254691:p.Gln978Leu						p.Q978L	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	3008	+			978			Pro-rich.		Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2933A>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177438	0.38413	.	.	ENSG00000132357	ENST00000254691	D	0.95788	-3.81	4.18	1.71	0.24356	.	1.529070	0.03885	N	0.277765	D	0.90528	0.7032	N	0.24115	0.695	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.80169	-0.1494	10	0.66056	D	0.02	1.009	3.5009	0.07673	0.6989:0.0:0.106:0.1951	.	978	Q9BX69	CARD6_HUMAN	L	978	ENSP00000254691:Q978L	ENSP00000254691:Q978L	Q	+	2	0	CARD6	40890124	0.000000	0.05858	0.008000	0.14137	0.282000	0.26991	0.503000	0.22610	0.369000	0.24510	0.383000	0.25322	CAG		0.532	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			12	513	0	0	0	0	12	513				
ZFYVE16	9765	broad.mit.edu	37	5	79734565	79734565	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:79734565C>T	ENST00000338008.5	+	3	2241	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	ZFYVE16_ENST00000510158.1_Silent_p.I687I|ZFYVE16_ENST00000505560.1_Silent_p.I687I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	687					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGTTCCAATCACTTGTGCTA	0.403																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NA																	0					0						c.(2059-2061)ATC>ATT		zinc finger, FYVE domain containing 16							104.0	97.0	100.0					5																	79734565		2203	4300	6503	SO:0001819	synonymous_variant	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79734565C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2061C>T	5.37:g.79734565C>T						ZFYVE16_uc010jak.1_Silent_p.I687I|ZFYVE16_uc003kgp.2_Silent_p.I687I|ZFYVE16_uc003kgq.3_Silent_p.I687I|ZFYVE16_uc003kgs.3_Silent_p.I687I	p.I687I	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	4	2363	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	687					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Silent	SNP	ENST00000338008.5	37	c.2061C>T	CCDS4050.1																																																																																				0.403	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		4	128	0	0	0	0	4	128				
RIOK2	55781	broad.mit.edu	37	5	96503521	96503521	+	Silent	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:96503521C>G	ENST00000283109.3	-	8	1115	c.1047G>C	c.(1045-1047)ggG>ggC	p.G349G	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Silent_p.G349G	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	349	Protein kinase.		G -> R (in dbSNP:rs160632). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CATTTTCTGACCCGTAAACCT	0.393																																						uc003kmz.2		NA																	0				kidney(1)	1						c.(1045-1047)GGG>GGC		RIO kinase 2 isoform 1							153.0	153.0	153.0					5																	96503521		2203	4300	6503	SO:0001819	synonymous_variant	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503521C>G	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1047G>C	5.37:g.96503521C>G						RIOK2_uc003kna.3_Silent_p.G349G	p.G349G	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	8	1157	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	349			Protein kinase.		D6RDI3|Q9NUT0	Silent	SNP	ENST00000283109.3	37	c.1047G>C	CCDS4089.1																																																																																				0.393	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		50	279	0	0	0	0	50	279				
VDAC1	7416	broad.mit.edu	37	5	133326807	133326807	+	Silent	SNP	G	G	C	rs577523780		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:133326807G>C	ENST00000265333.3	-	4	400	c.156C>G	c.(154-156)acC>acG	p.T52T	VDAC1_ENST00000395044.3_Silent_p.T52T|VDAC1_ENST00000395047.2_Silent_p.T52T|VDAC1_ENST00000466080.1_5'UTR	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	52					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CCGTCACTTTGGTGGTCTCAG	0.488																																					NSCLC(127;1776 1806 35523 41489 48154)	uc003kyp.1		NA																	0					0						c.(154-156)ACC>ACG		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						111.0	100.0	104.0					5																	133326807		2203	4299	6502	SO:0001819	synonymous_variant	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326807G>C		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.156C>G	5.37:g.133326807G>C						VDAC1_uc003kyq.1_Silent_p.T52T|VDAC1_uc003kyr.1_Silent_p.T52T	p.T52T	NM_003374	NP_003365	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	255	-			52					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Silent	SNP	ENST00000265333.3	37	c.156C>G	CCDS4168.1																																																																																				0.488	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			32	167	0	0	0	0	32	167				
PCDHGA5	56110	broad.mit.edu	37	5	140746136	140746136	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:140746136C>T	ENST00000518069.1	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	747					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R747W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGGGGTTCGGGCTTTCCT	0.627																																						uc003lju.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)	4						c.(2239-2241)CGG>TGG		protocadherin gamma subfamily A, 5 isoform 1							85.0	94.0	91.0					5																	140746136		2203	4300	6503	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140746136C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2239C>T	5.37:g.140746136C>T	ENSP00000429834:p.Arg747Trp					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_uc011das.1_Missense_Mutation_p.R747W	p.R747W	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2239	+			747			Cytoplasmic (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.2239C>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.123126	0.37436	.	.	ENSG00000253485	ENST00000518069	T	0.48836	0.8	4.76	2.75	0.32379	.	.	.	.	.	T	0.53690	0.1812	M	0.80028	2.48	0.21105	N	0.999785	B;B	0.28552	0.143;0.215	B;B	0.34779	0.155;0.189	T	0.54070	-0.8348	9	0.66056	D	0.02	.	11.2045	0.48760	0.3261:0.6739:0.0:0.0	.	747;747	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	W	747	ENSP00000429834:R747W	ENSP00000429834:R747W	R	+	1	2	PCDHGA5	140726320	0.748000	0.28294	0.629000	0.29254	0.433000	0.31745	1.620000	0.36976	1.050000	0.40346	0.563000	0.77884	CGG		0.627	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		49	125	0	0	0	0	49	125				
SERPINB6	5269	broad.mit.edu	37	6	2953378	2953378	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:2953378A>C	ENST00000380520.1	-	4	2467	c.473T>G	c.(472-474)tTg>tGg	p.L158W	SERPINB6_ENST00000380524.1_Missense_Mutation_p.L158W|SERPINB6_ENST00000380529.1_Missense_Mutation_p.L158W|SERPINB6_ENST00000380546.3_Missense_Mutation_p.L158W|SERPINB6_ENST00000335686.5_Missense_Mutation_p.L158W|SERPINB6_ENST00000380539.1_Missense_Mutation_p.L158W			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	158					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L158W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGCCTTGTCAATGGATCCAC	0.502											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003muk.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(472-474)TTG>TGG		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						231.0	250.0	244.0					6																	2953378		2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2953378A>C	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.473T>G	6.37:g.2953378A>C	ENSP00000369891:p.Leu158Trp		OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	607	SERPINB6_uc003mui.2_Missense_Mutation_p.L41W|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.L158W|SERPINB6_uc003mum.2_Missense_Mutation_p.L158W|SERPINB6_uc003mun.2_Missense_Mutation_p.L158W|SERPINB6_uc003muo.2_Missense_Mutation_p.L158W	p.L158W	NM_004568	NP_004559	P35237	SPB6_HUMAN			4	2468	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	158					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.473T>G	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205436	0.39003	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.71	-7.24	0.01475	Serpin domain (3);	4.781280	0.00659	N	0.000595	T	0.60104	0.2243	M	0.64260	1.97	0.09310	N	1	B	0.15141	0.012	B	0.24394	0.053	T	0.52997	-0.8500	10	0.66056	D	0.02	.	1.6031	0.02679	0.3468:0.3253:0.2025:0.1254	.	158	P35237	SPB6_HUMAN	W	158	ENSP00000369896:L158W;ENSP00000369891:L158W;ENSP00000338358:L158W;ENSP00000369901:L158W;ENSP00000369912:L158W;ENSP00000369919:L158W	ENSP00000338358:L158W	L	-	2	0	SERPINB6	2898377	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-3.351000	0.00501	-1.340000	0.02227	0.529000	0.55759	TTG		0.502	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			34	475	0	0	0	0	34	475				
OR2J2	26707	broad.mit.edu	37	6	29141542	29141542	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:29141542C>G	ENST00000377167.2	+	1	232	c.130C>G	c.(130-132)Ctg>Gtg	p.L44V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GACAGGAAACCTGTTCATCAT	0.428																																						uc011dlm.1		NA																	0					0						c.(130-132)CTG>GTG		olfactory receptor, family 2, subfamily J,							168.0	161.0	163.0					6																	29141542		2014	4206	6220	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141542C>G		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.130C>G	6.37:g.29141542C>G	ENSP00000366372:p.Leu44Val						p.L44V	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	232	+			44			Helical; Name=1; (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.130C>G	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	2.685	-0.274390	0.05679	.	.	ENSG00000204700	ENST00000377167	T	0.00428	7.44	2.48	0.27	0.15635	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.39566	1.225	0.23747	N	0.996959	P	0.51653	0.947	P	0.45138	0.471	T	0.06127	-1.0844	9	0.27785	T	0.31	.	1.7979	0.03065	0.1641:0.2966:0.394:0.1452	.	44	O76002	OR2J2_HUMAN	V	44	ENSP00000366372:L44V	ENSP00000366372:L44V	L	+	1	2	OR2J2	29249521	0.000000	0.05858	0.984000	0.44739	0.479000	0.33129	-0.989000	0.03736	0.350000	0.24002	0.205000	0.17691	CTG		0.428	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			57	315	0	0	0	0	57	315				
MUC21	394263	broad.mit.edu	37	6	30954441	30954441	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:30954441C>T	ENST00000376296.3	+	2	730	c.489C>T	c.(487-489)agC>agT	p.S163S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	163	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S163S(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GTGAGGCCAGCACAGCCACCA	0.617																																						uc003nsh.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(487-489)AGC>AGT		mucin 21 precursor							145.0	136.0	139.0					6																	30954441		2203	4300	6503	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30954441C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.489C>T	6.37:g.30954441C>T						MUC21_uc003nsi.1_RNA	p.S163S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	740	+			163			Ser-rich.|28 X 15 AA approximate tandem repeats.|9.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.489C>T	CCDS34388.1																																																																																				0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		71	290	0	0	0	0	71	290				
MUC21	394263	broad.mit.edu	37	6	30954455	30954455	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:30954455C>G	ENST00000376296.3	+	2	744	c.503C>G	c.(502-504)tCt>tGt	p.S168C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	168	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S168C(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.607																																						uc003nsh.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(502-504)TCT>TGT		mucin 21 precursor							143.0	136.0	138.0					6																	30954455		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954455C>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.503C>G	6.37:g.30954455C>G	ENSP00000365473:p.Ser168Cys					MUC21_uc003nsi.1_RNA	p.S168C	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	754	+			168			28 X 15 AA approximate tandem repeats.|Ser-rich.|10.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.503C>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468958	0.26335	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02498	4.27	3.65	0.735	0.18300	.	.	.	.	.	T	0.01387	0.0045	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	P	0.59012	0.85	T	0.49072	-0.8977	8	.	.	.	-0.6394	4.5476	0.12088	0.1748:0.6196:0.0:0.2056	.	168	Q5SSG8	MUC21_HUMAN	C	168	ENSP00000365473:S168C	.	S	+	2	0	MUC21	31062434	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	0.011000	0.13264	0.021000	0.15133	0.485000	0.47835	TCT		0.607	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		77	317	0	0	0	0	77	317				
SAPCD1	401251	broad.mit.edu	37	6	31731931	31731931	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:31731931G>A	ENST00000425424.1	+	3	405	c.346G>A	c.(346-348)Gag>Aag	p.E116K	SAPCD1-AS1_ENST00000419679.1_RNA|SAPCD1_ENST00000415669.2_Missense_Mutation_p.E116K|MSH5-SAPCD1_ENST00000493662.2_3'UTR|MSH5_ENST00000534153.4_3'UTR|VWA7_ENST00000467576.1_5'Flank			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	116																	TCTGATTCATGAGAAGGTGAG	0.443																																						uc003nxa.3		NA																	0					0						c.(346-348)GAG>AAG		hypothetical protein LOC401251							111.0	109.0	110.0					6																	31731931		2203	4300	6503	SO:0001583	missense	401251							g.chr6:31731931G>A		CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.346G>A	6.37:g.31731931G>A	ENSP00000413372:p.Glu116Lys					MSH5_uc003nwz.3_RNA	p.E116K	NM_001039651	NP_001034740	Q5SSQ6	G7D_HUMAN			3	405	+			116					A2ABF2|A2ABS9|Q9Y335	Missense_Mutation	SNP	ENST00000425424.1	37	c.346G>A		.	.	.	.	.	.	.	.	.	.	G	13.45	2.242155	0.39598	.	.	ENSG00000228727	ENST00000433778;ENST00000415669;ENST00000425424	T;T	0.30182	1.54;1.55	4.41	3.51	0.40186	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.20074	N	0.999939	B	0.21606	0.058	B	0.19946	0.027	T	0.39099	-0.9630	8	0.08599	T	0.76	-2.4239	10.023	0.42055	0.0:0.2741:0.7259:0.0	.	116	Q5SSQ6-2	.	K	116	ENSP00000411948:E116K;ENSP00000413372:E116K	ENSP00000411948:E116K	E	+	1	0	C6orf26	31839910	0.640000	0.27243	0.433000	0.26760	0.975000	0.68041	0.250000	0.18235	1.086000	0.41228	0.655000	0.94253	GAG		0.443	SAPCD1-203	KNOWN	basic	protein_coding	protein_coding		NM_001039651		27	227	0	0	0	0	27	227				
MEP1A	4224	broad.mit.edu	37	6	46802421	46802421	+	Silent	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:46802421C>G	ENST00000230588.4	+	12	1725	c.1716C>G	c.(1714-1716)tcC>tcG	p.S572S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	572	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTTTCATTTCCCACCAAATGC	0.438																																						uc010jzh.1		NA																	0				pancreas(2)|ovary(1)	3						c.(1714-1716)TCC>TCG		meprin A alpha precursor							99.0	95.0	96.0					6																	46802421		2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46802421C>G		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1716C>G	6.37:g.46802421C>G						MEP1A_uc011dwg.1_Silent_p.S294S|MEP1A_uc011dwh.1_Silent_p.S600S|MEP1A_uc011dwi.1_Silent_p.S472S	p.S572S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		12	1758	+			572			MATH.|Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.1716C>G	CCDS4918.1																																																																																				0.438	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		6	183	0	0	0	0	6	183				
SLC22A16	85413	broad.mit.edu	37	6	110763885	110763885	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:110763885A>C	ENST00000368919.3	-	4	811	c.745T>G	c.(745-747)Ttt>Gtt	p.F249V	SLC22A16_ENST00000330550.4_Missense_Mutation_p.F215V|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Missense_Mutation_p.F249V|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	249					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.F249V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ACTGCAAAAAAGGAATGCAAA	0.483																																						uc003puf.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(745-747)TTT>GTT		solute carrier family 22, member 16							89.0	87.0	87.0					6																	110763885		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110763885A>C		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.745T>G	6.37:g.110763885A>C	ENSP00000357915:p.Phe249Val					SLC22A16_uc003pue.2_Missense_Mutation_p.F230V	p.F249V	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	4	812	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	249			Helical; (Potential).		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.745T>G	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.254569	0.39896	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	4.84	4.84	0.62591	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.300828	0.36555	N	0.002522	T	0.71091	0.3299	M	0.85945	2.785	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.934	T	0.75608	-0.3259	10	0.48119	T	0.1	.	14.3918	0.66983	1.0:0.0:0.0:0.0	.	249;215	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	V	249;166;215;249;79;206	ENSP00000357915:F249V;ENSP00000395642:F166V;ENSP00000328583:F215V;ENSP00000408799:F249V;ENSP00000409306:F79V;ENSP00000416310:F206V	ENSP00000328583:F215V	F	-	1	0	SLC22A16	110870578	1.000000	0.71417	0.746000	0.31095	0.049000	0.14656	4.715000	0.61909	1.807000	0.52817	0.533000	0.62120	TTT		0.483	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		24	80	0	0	0	0	24	80				
NKAIN2	154215	broad.mit.edu	37	6	124979372	124979372	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:124979372G>A	ENST00000368417.1	+	4	374	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000368416.1_Missense_Mutation_p.R105Q|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R90Q	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCAATGCACCGATCTTGGTGG	0.463																																						uc003pzo.2		NA																	0					0						c.(313-315)CGA>CAA		T-cell lymphoma breakpoint-associated target 1							129.0	125.0	126.0					6																	124979372		2203	4300	6503	SO:0001583	missense	154215					integral to membrane|plasma membrane		g.chr6:124979372G>A	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.314G>A	6.37:g.124979372G>A	ENSP00000357402:p.Arg105Gln					NKAIN2_uc003pzn.1_Missense_Mutation_p.R105Q|NKAIN2_uc003pzp.2_Missense_Mutation_p.R104Q|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.R15Q	p.R105Q	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	4	591	+			105					Q8IYR4|Q8TF67	Missense_Mutation	SNP	ENST00000368417.1	37	c.314G>A	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028823	0.93518	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000539866;ENST00000545433	T;T;T	0.15139	2.45;2.45;2.45	5.71	5.71	0.89125	.	0.062989	0.64402	D	0.000003	T	0.30665	0.0772	L	0.55103	1.725	0.52501	D	0.99995	P;D;P;D	0.89917	0.95;0.997;0.95;1.0	B;D;B;D	0.72625	0.338;0.964;0.419;0.978	T	0.00487	-1.1710	10	0.40728	T	0.16	-4.6334	19.9132	0.97031	0.0:0.0:1.0:0.0	.	90;104;105;105	B3KNZ0;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	Q	105;105;104;90	ENSP00000357401:R105Q;ENSP00000357402:R105Q;ENSP00000437798:R90Q	ENSP00000357401:R105Q	R	+	2	0	NKAIN2	125021071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	2.710000	0.92621	0.644000	0.83932	CGA		0.463	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		20	95	0	0	0	0	20	95				
RAET1E	135250	broad.mit.edu	37	6	150210664	150210664	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:150210664G>T	ENST00000357183.4	-	3	574	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000532335.1_Missense_Mutation_p.L148I|RAET1E_ENST00000367363.3_Missense_Mutation_p.L112I|RAET1E_ENST00000529948.1_Missense_Mutation_p.L148I|RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	148	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCAAAGAGGAGGGATTTCTCT	0.468																																						uc003qnl.1		NA																	0					0						c.(442-444)CTC>ATC		retinoic acid early transcript 1E precursor							167.0	139.0	149.0					6																	150210664		2203	4300	6503	SO:0001583	missense	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150210664G>T	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.442C>A	6.37:g.150210664G>T	ENSP00000349709:p.Leu148Ile					uc003qni.1_Intron|RAET1E_uc003qnj.2_Missense_Mutation_p.L148I|RAET1E_uc003qnk.1_Missense_Mutation_p.L112I|RAET1E_uc010kih.1_RNA	p.L148I	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	502	-		Ovarian(120;0.0907)	148			Extracellular (Potential).|MHC class I alpha-2 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	c.442C>A	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475830	0.44044	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	3.57	1.75	0.24633	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.907170	0.09212	N	0.833110	T	0.11836	0.0288	M	0.72353	2.195	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.998	T	0.12837	-1.0532	10	0.49607	T	0.09	-10.3066	5.6203	0.17453	0.2528:0.0:0.7472:0.0	.	148;112;148	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	I	148;148;112;148	ENSP00000437067:L148I;ENSP00000349709:L148I;ENSP00000356332:L112I;ENSP00000432366:L148I	ENSP00000349709:L148I	L	-	1	0	RAET1E	150252357	0.282000	0.24268	0.007000	0.13788	0.007000	0.05969	1.326000	0.33735	0.494000	0.27859	0.485000	0.47835	CTC		0.468	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		6	162	1	0	1.13e-05	1.23e-05	6	162				
MTRF1L	54516	broad.mit.edu	37	6	153316432	153316432	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:153316432G>A	ENST00000367233.5	-	3	361	c.362C>T	c.(361-363)tCa>tTa	p.S121L	MTRF1L_ENST00000464135.1_Intron|MTRF1L_ENST00000367230.1_Missense_Mutation_p.S121L|MTRF1L_ENST00000367231.5_Missense_Mutation_p.S121L	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	121						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)	p.S121L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TGTTTCTTCTGAGGGAACCAA	0.313																																						uc003qpi.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(361-363)TCA>TTA		mitochondrial translational release factor							25.0	24.0	25.0					6																	153316432		2193	4295	6488	SO:0001583	missense	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153316432G>A	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.362C>T	6.37:g.153316432G>A	ENSP00000356202:p.Ser121Leu					MTRF1L_uc003qpl.3_Missense_Mutation_p.S121L|MTRF1L_uc011efa.1_Missense_Mutation_p.S121L|MTRF1L_uc003qpj.3_Intron|MTRF1L_uc003qpk.3_Missense_Mutation_p.S121L	p.S121L	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	3	467	-		Ovarian(120;0.125)	121					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	ENST00000367233.5	37	c.362C>T	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836855	0.71373	.	.	ENSG00000112031	ENST00000367233;ENST00000367231;ENST00000367230;ENST00000414771	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.43	5.43	0.79202	Peptide chain release factor (2);	0.467586	0.22724	N	0.056412	T	0.17789	0.0427	L	0.53729	1.69	0.40571	D	0.981304	D;D;D;D	0.58970	0.959;0.98;0.974;0.984	P;P;P;P	0.54815	0.723;0.669;0.57;0.761	T	0.00343	-1.1802	10	0.87932	D	0	-5.369	14.7985	0.69894	0.0:0.1439:0.8561:0.0	.	121;121;121;121	B4DMX1;Q9UGC7-2;Q9UGC7-4;Q9UGC7	.;.;.;RF1ML_HUMAN	L	121;121;121;8	ENSP00000356202:S121L;ENSP00000356200:S121L;ENSP00000356199:S121L;ENSP00000414383:S8L	ENSP00000356199:S121L	S	-	2	0	MTRF1L	153358125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.304000	0.65744	2.551000	0.86045	0.585000	0.79938	TCA		0.313	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		5	48	0	0	0	0	5	48				
THSD7A	221981	broad.mit.edu	37	7	11464388	11464388	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:11464388G>A	ENST00000423059.4	-	16	3569	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1106	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACCTTGCAGATGCTCCAGG	0.493										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(3316-3318)ATC>ATT		thrombospondin, type I, domain containing 7A							184.0	173.0	176.0					7																	11464388		2001	4190	6191	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11464388G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3318C>T	7.37:g.11464388G>A		HNSCC(18;0.044)					p.I1106I	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	15	3570	-			1106			TSP type-1 11.|Extracellular (Potential).			Silent	SNP	ENST00000423059.4	37	c.3318C>T	CCDS47543.1																																																																																				0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		43	265	0	0	0	0	43	265				
SEMA3A	10371	broad.mit.edu	37	7	83590840	83590840	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:83590840G>A	ENST00000265362.4	-	17	2477	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	SEMA3A_ENST00000436949.1_Silent_p.F721F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	721					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.F721F(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTGTTCACAGAACTCATCCA	0.453																																						uc003uhz.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)|breast(1)|kidney(1)	4						c.(2161-2163)TTC>TTT		semaphorin 3A precursor							195.0	170.0	178.0					7																	83590840		2203	4300	6503	SO:0001819	synonymous_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590840G>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2163C>T	7.37:g.83590840G>A							p.F721F	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			17	2478	-			721						Silent	SNP	ENST00000265362.4	37	c.2163C>T	CCDS5599.1																																																																																				0.453	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		16	176	0	0	0	0	16	176				
GRM3	2913	broad.mit.edu	37	7	86394556	86394556	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:86394556A>G	ENST00000361669.2	+	2	1194	c.95A>G	c.(94-96)gAg>gGg	p.E32G	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E32G|GRM3_ENST00000394720.2_Missense_Mutation_p.E30G	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	32					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CTAAGGAGAGAGATTAAAATA	0.408																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(94-96)GAG>GGG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						107.0	112.0	110.0					7																	86394556		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394556A>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.95A>G	7.37:g.86394556A>G	ENSP00000355316:p.Glu32Gly					GRM3_uc010lef.2_Missense_Mutation_p.E30G|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.E32G	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1194	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		32			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.95A>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313542	0.81358	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	L	0.57536	1.79	0.80722	D	1	D;P	0.67145	0.996;0.895	P;P	0.55055	0.767;0.586	T	0.82841	-0.0258	10	0.33940	T	0.23	.	14.4674	0.67492	1.0:0.0:0.0:0.0	.	32;32	G5E9K2;Q14832	.;GRM3_HUMAN	G	32;32;30;32;32	ENSP00000355316:E32G;ENSP00000398767:E32G;ENSP00000378209:E30G;ENSP00000390037:E32G;ENSP00000407490:E32G	ENSP00000355316:E32G	E	+	2	0	GRM3	86232492	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.900000	0.92551	2.206000	0.71126	0.533000	0.62120	GAG		0.408	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			7	204	0	0	0	0	7	204				
INSIG1	3638	broad.mit.edu	37	7	155093339	155093339	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:155093339G>C	ENST00000340368.4	+	3	687	c.476G>C	c.(475-477)aGa>aCa	p.R159T	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	159					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.R159T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAATTTAAGAGAGAATGGGCC	0.443																																						uc003wly.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(475-477)AGA>ACA		insulin induced gene 1 isoform 1							198.0	177.0	184.0					7																	155093339		2203	4300	6503	SO:0001583	missense	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155093339G>C		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.476G>C	7.37:g.155093339G>C	ENSP00000344741:p.Arg159Thr					INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Intron	p.R159T	NM_005542	NP_005533	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	687	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	159			Cytoplasmic.		A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.476G>C	CCDS5938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.113668|5.113668	0.94339|0.94339	.|.	.|.	ENSG00000186480|ENSG00000186480	ENST00000476756|ENST00000340368	.|T	.|0.46451	.|0.87	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47173|0.47173	0.1431|0.1431	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D	.|0.57571	.|0.98	.|P	.|0.51550	.|0.673	T|T	0.25082|0.25082	-1.0142|-1.0142	5|10	.|0.15952	.|T	.|0.53	.|.	18.4009|18.4009	0.90515|0.90515	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|159	.|O15503	.|INSI1_HUMAN	D|T	67|159	.|ENSP00000344741:R159T	.|ENSP00000344741:R159T	E|R	+|+	3|2	2|0	INSIG1|INSIG1	154724272|154724272	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.878000|0.878000	0.50629|0.50629	9.451000|9.451000	0.97610|0.97610	2.500000|2.500000	0.84329|0.84329	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.443	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		79	197	0	0	0	0	79	197				
ADRB3	155	broad.mit.edu	37	8	37823588	37823588	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:37823588C>A	ENST00000345060.3	-	1	895	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	ADRB3_ENST00000520341.1_5'Flank	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	134					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)	AGGTAGCGGTCCACGGCCAGG	0.692																																						uc003xkr.1		NA																	0				lung(2)	2						c.(400-402)GAC>TAC		adrenergic, beta-3-, receptor	Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)						34.0	30.0	32.0					8																	37823588		2198	4298	6496	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.chr8:37823588C>A	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.400G>T	8.37:g.37823588C>A	ENSP00000343782:p.Asp134Tyr						p.D134Y	NM_000025	NP_000016	P13945	ADRB3_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		1	597	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	134			Cytoplasmic (By similarity).		Q4JFT4	Missense_Mutation	SNP	ENST00000345060.3	37	c.400G>T	CCDS6099.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608574	0.87258	.	.	ENSG00000188778	ENST00000345060	D	0.85861	-2.04	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97501	1.0060	10	0.87932	D	0	.	17.3367	0.87283	0.0:1.0:0.0:0.0	.	134	P13945	ADRB3_HUMAN	Y	134	ENSP00000343782:D134Y	ENSP00000343782:D134Y	D	-	1	0	ADRB3	37942745	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.527000	0.81931	2.504000	0.84457	0.305000	0.20034	GAC		0.692	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025		8	10	1	0	1.13e-05	1.23e-05	8	10				
STK3	6788	broad.mit.edu	37	8	99468078	99468078	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:99468078T>G	ENST00000419617.2	-	11	1608	c.1468A>C	c.(1468-1470)Aac>Cac	p.N490H	STK3_ENST00000523601.1_Missense_Mutation_p.N518H	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	490					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)	p.N490H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACTCAAAAGTTTTGCTGCCTT	0.388																																						uc003yip.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(3)|ovary(1)	4						c.(1468-1470)AAC>CAC		serine/threonine kinase 3							97.0	90.0	92.0					8																	99468078		1858	4096	5954	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99468078T>G	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1468A>C	8.37:g.99468078T>G	ENSP00000390500:p.Asn490His					STK3_uc003yio.2_Missense_Mutation_p.N518H	p.N490H	NM_006281	NP_006272	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	11	1609	-	Breast(36;2.4e-06)	Breast(495;0.106)	490					A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.1468A>C	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668927	0.47677	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.74315	-0.81;-0.83	5.14	5.14	0.70334	.	0.222712	0.43579	D	0.000558	T	0.72779	0.3503	L	0.53671	1.685	0.58432	D	0.999997	B;B	0.29835	0.258;0.258	B;B	0.34180	0.177;0.177	T	0.73522	-0.3956	10	0.54805	T	0.06	.	15.2658	0.73660	0.0:0.0:0.0:1.0	.	490;518	Q13188;B3KYA7	STK3_HUMAN;.	H	490;518	ENSP00000390500:N490H;ENSP00000429744:N518H	ENSP00000390500:N490H	N	-	1	0	STK3	99537254	1.000000	0.71417	0.998000	0.56505	0.681000	0.39784	7.583000	0.82559	2.063000	0.61619	0.383000	0.25322	AAC		0.388	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		6	55	0	0	0	0	6	55				
NOTCH1	4851	broad.mit.edu	37	9	139413947	139413947	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr9:139413947G>A	ENST00000277541.6	-	5	888	c.813C>T	c.(811-813)gcC>gcT	p.A271A	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	271	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCCACACAGGCACCCCCGT	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(811-813)GCC>GCT		notch1 preproprotein							90.0	112.0	105.0					9																	139413947		2020	4174	6194	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413947G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.813C>T	9.37:g.139413947G>A		HNSCC(8;0.001)					p.A271A	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	5	813	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	271			Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.813C>T	CCDS43905.1																																																																																				0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		41	126	0	0	0	0	41	126				
PNPLA7	375775	broad.mit.edu	37	9	140361788	140361788	+	Missense_Mutation	SNP	C	C	T	rs28415505		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr9:140361788C>T	ENST00000277531.4	-	25	3131	c.2945G>A	c.(2944-2946)cGg>cAg	p.R982Q	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R1007Q|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R588Q	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	982	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTGCTTGGCCCGGATCCGCAT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		12097	0.001		0.0	False		,,,				2504	0.0					uc004cnf.2		NA																	0				skin(1)	1						c.(2944-2946)CGG>CAG		patatin-like phospholipase domain containing 7							105.0	75.0	85.0					9																	140361788		2201	4298	6499	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361788C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2945G>A	9.37:g.140361788C>T	ENSP00000277531:p.Arg982Gln					C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.R248Q|PNPLA7_uc004cne.1_Missense_Mutation_p.R248Q|PNPLA7_uc011mfa.1_Missense_Mutation_p.R390Q|PNPLA7_uc010ncj.1_Missense_Mutation_p.R1007Q	p.R982Q	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	25	3282	-	all_cancers(76;0.126)		982			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2945G>A	CCDS7045.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.83	3.707234	0.68615	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.41	3.58	0.41010	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.109053	0.64402	N	0.000014	D	0.85852	0.5793	M	0.79693	2.465	0.43435	D	0.995602	D;D;D;D	0.76494	0.966;0.999;0.999;0.971	P;D;D;P	0.68765	0.74;0.909;0.96;0.658	D	0.85239	0.1037	10	0.72032	D	0.01	-20.8751	8.867	0.35291	0.0:0.7454:0.0:0.2546	rs28415505	390;1007;982;248	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	Q	588;390;982;1007;982;973	ENSP00000360512:R588Q;ENSP00000360501:R390Q;ENSP00000277531:R982Q;ENSP00000384610:R1007Q;ENSP00000400582:R973Q	ENSP00000277531:R982Q	R	-	2	0	PNPLA7	139481609	0.989000	0.36119	0.999000	0.59377	0.644000	0.38419	2.438000	0.44837	0.660000	0.30964	-0.258000	0.10820	CGG		0.672	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		18	39	0	0	0	0	18	39				
FAM47C	442444	broad.mit.edu	37	X	37029320	37029320	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:37029320A>T	ENST00000358047.3	+	1	2889	c.2837A>T	c.(2836-2838)aAg>aTg	p.K946M		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	946								p.K946M(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCAAGCCTAAGTTGGGGAAA	0.453																																						uc004ddl.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)	3						c.(2836-2838)AAG>ATG		hypothetical protein LOC442444							109.0	105.0	106.0					X																	37029320		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029320A>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2837A>T	X.37:g.37029320A>T	ENSP00000367913:p.Lys946Met						p.K946M	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2851	+			946					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2837A>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	A	3.079	-0.189434	0.06299	.	.	ENSG00000198173	ENST00000358047	T	0.26373	1.74	0.502	-1.0	0.10196	.	.	.	.	.	T	0.22166	0.0534	L	0.59436	1.845	0.09310	N	1	P	0.46395	0.877	B	0.41764	0.366	T	0.11470	-1.0586	8	0.62326	D	0.03	.	.	.	.	.	946	Q5HY64	FA47C_HUMAN	M	946	ENSP00000367913:K946M	ENSP00000367913:K946M	K	+	2	0	FAM47C	36939241	0.263000	0.24083	0.038000	0.18304	0.011000	0.07611	1.231000	0.32624	-0.730000	0.04869	-1.070000	0.02257	AAG		0.453	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		49	50	0	0	0	0	49	50				
SYP	6855	broad.mit.edu	37	X	49049871	49049871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:49049871G>A	ENST00000263233.4	-	5	545	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SYP_ENST00000538567.1_Missense_Mutation_p.S40L|SYP_ENST00000479808.1_Missense_Mutation_p.S158L	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	158	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.		S -> L. {ECO:0000269|PubMed:19377476}.		cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCCCATGCCGATGAGCTAAC	0.562																																						uc004dmz.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(472-474)TCG>TTG		synaptophysin							76.0	49.0	58.0					X																	49049871		2203	4300	6503	SO:0001583	missense	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49049871G>A	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.473C>T	X.37:g.49049871G>A	ENSP00000263233:p.Ser158Leu					SYP_uc011mmz.1_Missense_Mutation_p.S40L|SYP_uc004dna.1_Missense_Mutation_p.S152L	p.S158L	NM_003179	NP_003170	P08247	SYPH_HUMAN			5	489	-		all_lung(315;0.00016)	158		S -> L.	MARVEL.|Helical; (Potential).		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	c.473C>T	CCDS14321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.220297|3.220297	0.58560|0.58560	.|.	.|.	ENSG00000102003|ENSG00000102003	ENST00000472598|ENST00000263233;ENST00000538567;ENST00000479808	.|T;T;T	.|0.26810	.|1.71;1.71;1.71	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Marvel (1);MARVEL-like domain (1);	.|0.559456	.|0.18191	.|N	.|0.148820	T|T	0.41003|0.41003	0.1140|0.1140	M|M	0.86953|0.86953	2.85|2.85	0.51233|0.51233	D|D	0.999919|0.999919	.|D	.|0.63046	.|0.992	.|P	.|0.47134	.|0.539	T|T	0.51220|0.51220	-0.8733|-0.8733	5|10	.|0.87932	.|D	.|0	-14.4748|-14.4748	11.0713|11.0713	0.48006|0.48006	0.0:0.3109:0.689:0.0|0.0:0.3109:0.689:0.0	.|.	.|158	.|P08247	.|SYPH_HUMAN	W|L	48|158;40;158	.|ENSP00000263233:S158L;ENSP00000437456:S40L;ENSP00000418169:S158L	.|ENSP00000263233:S158L	R|S	-|-	1|2	2|0	SYP|SYP	48936815|48936815	0.938000|0.938000	0.31826|0.31826	0.838000|0.838000	0.33150|0.33150	0.553000|0.553000	0.35397|0.35397	1.684000|1.684000	0.37649|0.37649	2.358000|2.358000	0.79984|0.79984	0.600000|0.600000	0.82982|0.82982	CGG|TCG		0.562	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		11	10	0	0	0	0	11	10				
TENM1	10178	broad.mit.edu	37	X	123587207	123587207	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:123587207A>G	ENST00000371130.3	-	22	4126	c.4063T>C	c.(4063-4065)Tca>Cca	p.S1355P	TENM1_ENST00000422452.2_Missense_Mutation_p.S1362P|TENM1_ENST00000461429.1_5'Flank	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1355					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCATTCCTGAGTCACAGCTC	0.413																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4063-4065)TCA>CCA		odz, odd Oz/ten-m homolog 1 isoform 3							269.0	195.0	220.0					X																	123587207		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123587207A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4063T>C	X.37:g.123587207A>G	ENSP00000360171:p.Ser1355Pro					ODZ1_uc011muj.1_Missense_Mutation_p.S1361P|ODZ1_uc010nqy.2_Missense_Mutation_p.S1362P	p.S1355P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			22	4127	-			1355			NHL 3.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4063T>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884507	0.51908	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86097	-2.07;-2.05	5.97	5.97	0.96955	Six-bladed beta-propeller, TolB-like (1);	0.065445	0.64402	D	0.000006	D	0.83073	0.5175	M	0.76838	2.35	0.58432	D	0.999998	P;B;B	0.36048	0.534;0.337;0.443	B;B;B	0.28784	0.092;0.063;0.094	T	0.83117	-0.0120	10	0.48119	T	0.1	.	11.8637	0.52480	0.8564:0.1436:0.0:0.0	.	1361;1362;1355	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	P	1355;1362	ENSP00000360171:S1355P;ENSP00000403954:S1362P	ENSP00000360171:S1355P	S	-	1	0	ODZ1	123414888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.603000	0.61105	2.014000	0.59158	0.486000	0.48141	TCA		0.413	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	98	0	0	0	0	4	98				
ACACB	32	broad.mit.edu	37	12	109698310	109698323	+	Frame_Shift_Del	DEL	TGGAGCCTACATCG	TGGAGCCTACATCG	-	rs142275188|rs374453872		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:109698310_109698323delTGGAGCCTACATCG	ENST00000338432.7	+	48	6641_6654	c.6522_6535delTGGAGCCTACATCG	c.(6520-6537)tttggagcctacatcgtgfs	p.GAYIV2175fs	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Frame_Shift_Del_p.GAYIV2175fs|ACACB_ENST00000377854.5_Frame_Shift_Del_p.GAYIV2105fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2175	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGCTGAAGTTTGGAGCCTACATCGTGGACGGCCT	0.542																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6520-6537)TTTGGAGCCTACATCGTGfs		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)																																			SO:0001589	frameshift_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109698310_109698323delTGGAGCCTACATCG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6522_6535delTGGAGCCTACATCG	12.37:g.109698310_109698323delTGGAGCCTACATCG	ENSP00000341044:p.Gly2175fs					ACACB_uc001toc.2_Frame_Shift_Del_p.F2174fs|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Frame_Shift_Del_p.F840fs	p.F2174fs	NM_001093	NP_001084	O00763	ACACB_HUMAN			48	6641_6654	+			2174_2179			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Frame_Shift_Del	DEL	ENST00000338432.7	37	c.6522_6535delTGGAGCCTACATCG	CCDS31898.1																																																																																				0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		31	185	NA	NA	NA	NA	31	185	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3328-3330)ATTfs		sacsin							187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914687delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs					SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.I1110fs	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3917	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1110					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3328delA	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	500	NA	NA	NA	NA	7	500	---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38786881	38786881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:38786881delC	ENST00000310803.5	-	16	2138	c.1961delG	c.(1960-1962)ggafs	p.G654fs	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.G606fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.G705fs|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.G619fs|RASGRP1_ENST00000559830.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	654					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.G654fs*11(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGGACACTCCCATCAGCAT	0.527																																						uc001zke.3		NA																	1	Deletion - Frameshift(1)		upper_aerodigestive_tract(1)	large_intestine(1)|ovary(1)	2						c.(1960-1962)GGAfs		RAS guanyl releasing protein 1 isoform a							45.0	43.0	44.0					15																	38786881		1958	4144	6102	SO:0001589	frameshift_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38786881delC	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1961delG	15.37:g.38786881delC	ENSP00000310244:p.Gly654fs					RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Frame_Shift_Del_p.G619fs	p.G654fs	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	16	2139	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	654					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Frame_Shift_Del	DEL	ENST00000310803.5	37	c.1961delG	CCDS45222.1																																																																																				0.527	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		27	19	NA	NA	NA	NA	27	19	---	---	---	---
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:73044826_73044827insT	ENST00000311669.8	-	7	1439_1440	c.1346_1347insA	c.(1345-1347)aagfs	p.K449fs	ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.K175fs	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	450	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.49																																						uc002avg.3		NA																	0					0						c.(1348-1350)AAGfs		ADP-dependent glucokinase																																				SO:0001589	frameshift_variant	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73044826_73044827insT	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1347dupA	15.37:g.73044828_73044828dupT	ENSP00000312250:p.Lys449fs					ADPGK_uc002ave.3_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.1_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.3_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.3_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.3_Frame_Shift_Ins_p.K211fs	p.K450fs	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN			7	1443_1444	-			450			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Frame_Shift_Ins	INS	ENST00000311669.8	37	c.1349_1350insA	CCDS42057.1																																																																																				0.490	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		14	237	NA	NA	NA	NA	14	237	---	---	---	---
SAMD10	140700	broad.mit.edu	37	20	62608688	62608706	+	Frame_Shift_Del	DEL	AGTGGCAGGGGATGCTCTC	AGTGGCAGGGGATGCTCTC	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr20:62608688_62608706delAGTGGCAGGGGATGCTCTC	ENST00000369886.3	-	2	319_337	c.145_163delGAGAGCATCCCCTGCCACT	c.(145-165)gagagcatcccctgccacttgfs	p.ESIPCHL49fs	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTCCGAGGCAAGTGGCAGGGGATGCTCTCAGCTGACACC	0.658																																						uc002yhm.2		NA																	0					0						c.(145-165)GAGAGCATCCCCTGCCACTTGfs		sterile alpha motif domain containing 10																																				SO:0001589	frameshift_variant	140700							g.chr20:62608688_62608706delAGTGGCAGGGGATGCTCTC		CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"""Sterile alpha motif (SAM) domain containing"""	16129	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 136"""	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.145_163delGAGAGCATCCCCTGCCACT	20.37:g.62608688_62608706delAGTGGCAGGGGATGCTCTC	ENSP00000358902:p.Glu49fs					SAMD10_uc002yhn.2_RNA	p.E49fs	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN			2	320_338	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		49_55						Frame_Shift_Del	DEL	ENST00000369886.3	37	c.145_163delGAGAGCATCCCCTGCCACT	CCDS13549.1																																																																																				0.658	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080255.1	NM_080621		18	97	NA	NA	NA	NA	18	97	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30057317	30057318	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr22:30057317_30057318insGT	ENST00000338641.4	+	8	1240_1241	c.799_800insGT	c.(799-801)agtfs	p.S267fs	NF2_ENST00000361676.4_Frame_Shift_Ins_p.S225fs|NF2_ENST00000361452.4_Frame_Shift_Ins_p.S226fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Frame_Shift_Ins_p.S267fs|NF2_ENST00000397789.3_Frame_Shift_Ins_p.S267fs|NF2_ENST00000403999.3_Frame_Shift_Ins_p.S267fs|NF2_ENST00000403435.1_Frame_Shift_Ins_p.S267fs|NF2_ENST00000353887.4_Frame_Shift_Ins_p.S184fs|NF2_ENST00000347330.5_Frame_Shift_Ins_p.S108fs|NF2_ENST00000334961.7_Frame_Shift_Ins_p.S184fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	267	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.N226_E270del(1)|p.D268fs*29(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CATCTCGTACAGTGACAAGGAG	0.554			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.3		NA	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	D|Mis|N|F|S|O	neurofibromatosis type 2 gene			O		meningioma|acoustic neuroma	meningioma|acoustic neuroma|renal 		5	Unknown(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.L127_D382del(1)|p.N226_E270del(1)|p.?(1)	upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|soft_tissue(1)|central_nervous_system(1)	meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						c.(799-801)AGTfs		neurofibromin 2 isoform 1																																				SO:0001589	frameshift_variant	4771	Neurofibromatosis_type_2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30057317_30057318insGT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.800_801dupGT	22.37:g.30057318_30057319dupGT	ENSP00000344666:p.Ser267fs					NF2_uc003afy.3_Frame_Shift_Ins_p.S267fs|NF2_uc003afz.3_Frame_Shift_Ins_p.S184fs|NF2_uc003agf.3_Frame_Shift_Ins_p.S267fs|NF2_uc003agb.3_Frame_Shift_Ins_p.S190fs|NF2_uc003agc.3_Frame_Shift_Ins_p.S229fs|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Frame_Shift_Ins_p.S267fs|NF2_uc003aga.3_Frame_Shift_Ins_p.S225fs|NF2_uc003agh.3_Frame_Shift_Ins_p.S226fs|NF2_uc003agi.3_Frame_Shift_Ins_p.S184fs|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Frame_Shift_Ins_p.S229fs	p.S267fs	NM_000268	NP_000259	P35240	MERL_HUMAN			8	1242_1243	+			267			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Ins	INS	ENST00000338641.4	37	c.799_800insGT	CCDS13861.1																																																																																				0.554	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		86	77	NA	NA	NA	NA	86	77	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38483189	38483190	+	In_Frame_Ins	INS	-	-	GGTCATGGA	rs200068984	byFrequency	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr22:38483189_38483190insGGTCATGGA	ENST00000381669.3	-	11	1344_1345	c.1200_1201insTCCATGACC	c.(1198-1203)acctcc>accTCCATGACCtcc	p.400_401TS>TSMTS	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	400					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gaggtcatggaggtcatggggg	0.658																																						uc003auw.2		NA																	0				pancreas(1)	1						c.(1198-1203)insTCCATGACC		BAI1-associated protein 2-like 2																																				SO:0001652	inframe_insertion	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38483189_38483190insGGTCATGGA	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1192_1200dupTCCATGACC	22.37:g.38483181_38483189dupGGTCATGGA	ENSP00000371085:p.Ser398_Thr400dup					BAIAP2L2_uc003auv.2_5'Flank	p.403_404insSMT	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN			11	1344_1345	-	Melanoma(58;0.045)		403_404					B0QYE2|Q96BG7	In_Frame_Ins	INS	ENST00000381669.3	37	c.1200_1201insTCCATGACC	CCDS43018.1																																																																																				0.658	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		7	38	NA	NA	NA	NA	7	38	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383807.1_Splice_Site_p.L426fs|FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000287647.3_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.e15+1	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform																																				SO:0001630	splice_region_variant	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA						FANCD2_uc003bux.1_Splice_Site_p.L426_splice|FANCD2_uc003buy.1_Splice_Site_p.L426_splice|FANCD2_uc010hcw.1_5'Flank	p.L426_splice	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1356	+								Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	19	69	NA	NA	NA	NA	19	69	---	---	---	---
LRRC34	151827	broad.mit.edu	37	3	169514642	169514643	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:169514642_169514643delAG	ENST00000316515.7	-	7	939_940	c.663_664delCT	c.(661-666)cactgtfs	p.HC221fs	RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Frame_Shift_Del_p.HC266fs|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522526.2_Frame_Shift_Del_p.HC234fs|LRRC34_ENST00000522830.1_Frame_Shift_Del_p.HC205fs	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	221										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GCAACAAGACAGTGATTTTCTT	0.351																																						uc003ffx.2		NA																	0					0						c.(661-666)CACTGTfs		leucine rich repeat containing 34			,,	2,4264		0,2,2131					,,	-2.4	0.0			131	0,8252		0,0,4126	no	frameshift,frameshift,frameshift	LRRC34	NM_153353.4,NM_001172780.1,NM_001172779.1	,,	0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016	,,	,,		2,12516				SO:0001589	frameshift_variant	151827							g.chr3:169514642_169514643delAG	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.663_664delCT	3.37:g.169514642_169514643delAG	ENSP00000326150:p.His221fs					LRRC34_uc003ffy.2_Frame_Shift_Del_p.H253fs|LRRC34_uc011bpn.1_Frame_Shift_Del_p.H253fs|LRRC34_uc003ffz.2_Frame_Shift_Del_p.H205fs|LRRC34_uc003fga.3_Frame_Shift_Del_p.H205fs	p.H221fs	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		7	678_679	-	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		221_222					B4DEJ7|E9PBH2|G5E9T7	Frame_Shift_Del	DEL	ENST00000316515.7	37	c.663_664delCT																																																																																					0.351	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353		20	214	NA	NA	NA	NA	20	214	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						uc003nyv.2		NA																	0				skin(4)	4						c.(52-54)CGGfs		serine/threonine kinase 19 isoform 2																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	p.R18fs	NM_032454	NP_115830	P49842	STK19_HUMAN			1	180_181	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	276	NA	NA	NA	NA	8	276	---	---	---	---
