#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
C8B	732	broad.mit.edu	37	1	57406638	57406638	+	Nonsense_Mutation	SNP	G	G	A	rs41286844	byFrequency	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:57406638G>A	ENST00000371237.4	-	9	1348	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	C8B_ENST00000543257.1_Nonsense_Mutation_p.R376*|C8B_ENST00000535057.1_Nonsense_Mutation_p.R366*	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	428	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GCCCCTCCTCGTACCAGGACC	0.587													G|||	6	0.00119808	0.0	0.0	5008	,	,		17372	0.0		0.003	False		,,,				2504	0.0031					uc001cyp.3																			0		p.R428Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52	GRCh37	CM930076	C8B	M	rs41286844	c.(1282-1284)Cga>Tga		Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	158.0	113.0	128.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1282	3.5	0.7	1	dbSNP_127	128	20,8580	16.0+/-53.3	0,20,4280	yes	stop-gained	C8B	NM_000066.2		0,22,6481	AA,AG,GG		0.2326,0.0454,0.1692		428/592	57406638	22,12984	2203	4300	6503	SO:0001587	stop_gained	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57406638G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1282C>T	1.37:g.57406638G>A	ENSP00000360281:p.Arg428*					C8B_uc010oon.2_Nonsense_Mutation_p.R366*|C8B_uc010ooo.2_Nonsense_Mutation_p.R376*	p.R428*	NM_000066	NP_000057	P07358	CO8B_HUMAN			8	1349	-			428			MACPF.		A1L4K7	Nonsense_Mutation	SNP	ENST00000371237.4	37	c.1282C>T	CCDS30730.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	41	8.983584	0.99025	4.54E-4	0.002326	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	.	.	.	5.36	3.45	0.39498	.	0.055575	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.452	13.7491	0.62897	0.0:0.0:0.5985:0.4015	rs41286844	.	.	.	X	428;376;366	.	ENSP00000360281:R428X	R	-	1	2	C8B	57179226	0.872000	0.30054	0.666000	0.29783	0.965000	0.64279	2.946000	0.49050	0.706000	0.31912	0.655000	0.94253	CGA		0.587	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
HRNR	388697	broad.mit.edu	37	1	152187663	152187663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:152187663G>A	ENST00000368801.2	-	3	6517	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2148					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R2148*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTCGTTCACCCCTA	0.587																																						uc001ezt.1																			1	Substitution - Nonsense(1)	p.R2148*(2)|p.R2148L(1)	endometrium(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6442-6444)Cga>Tga		Homo sapiens hornerin (HRNR), mRNA.																																				SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187663G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6442C>T	1.37:g.152187663G>A	ENSP00000357791:p.Arg2148*						p.R2148*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6518	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2148					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6442C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	44	10.888224	0.99483	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.06	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	4.6058	0.12376	0.128:0.2295:0.6425:0.0	.	.	.	.	X	2148	.	ENSP00000357791:R2148X	R	-	1	2	HRNR	150454287	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.586000	0.23894	0.829000	0.34733	0.603000	0.83216	CGA		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
MEF2D	4209	broad.mit.edu	37	1	156446904	156446904	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:156446904G>A	ENST00000348159.4	-	7	1235	c.755C>T	c.(754-756)cCa>cTa	p.P252L	MEF2D_ENST00000368240.2_Missense_Mutation_p.P252L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P206L|MEF2D_ENST00000340875.5_Missense_Mutation_p.P251L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P252L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P251L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	252	Poly-Pro.				adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTGGGGGTGGAGACTTGGC	0.607																																						uc001fpc.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(754-756)cCa>cTa		Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.							83.0	76.0	78.0					1																	156446904		2203	4300	6503	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156446904G>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.755C>T	1.37:g.156446904G>A	ENSP00000271555:p.Pro252Leu					MEF2D_uc001fpb.3_Missense_Mutation_p.P252L|MEF2D_uc001fpd.3_Missense_Mutation_p.P252L|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L	p.P252L	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			6	1145	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		252			Poly-Pro.		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.755C>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271162	0.80469	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.52364	1.645	0.80722	D	1	B;B;B	0.32893	0.389;0.114;0.308	B;B;B	0.40565	0.098;0.051;0.333	T	0.12400	-1.0549	10	0.52906	T	0.07	-12.8772	18.1525	0.89678	0.0:0.0:1.0:0.0	.	257;252;252	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	L	252;251;252;206;252;251	ENSP00000271555:P252L;ENSP00000343159:P251L;ENSP00000357223:P252L;ENSP00000344705:P206L;ENSP00000353803:P252L;ENSP00000388505:P251L	ENSP00000343159:P251L	P	-	2	0	MEF2D	154713528	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	9.238000	0.95380	2.626000	0.88956	0.655000	0.94253	CCA		0.607	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920	
FCER1A	2205	broad.mit.edu	37	1	159275846	159275846	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:159275846G>A	ENST00000368115.1	+	5	499	c.400G>A	c.(400-402)Ggt>Agt	p.G134S	FCER1A_ENST00000368114.1_Missense_Mutation_p.G101S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	134	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAGGTGCCATGGTTGGAGGAA	0.468																																						uc001ftq.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(400-402)Ggt>Agt		Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						122.0	111.0	115.0					1																	159275846		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275846G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.400G>A	1.37:g.159275846G>A	ENSP00000357097:p.Gly134Ser						p.G134S	NM_002001	NP_001992	P12319	FCERA_HUMAN			4	497	+	all_hematologic(112;0.0429)		134			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.400G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	0.691	-0.794497	0.02862	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.11385	2.78;2.78	4.78	-2.36	0.06663	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.900772	0.09599	N	0.780442	T	0.01061	0.0035	N	0.05534	-0.03	0.09310	N	1	B	0.17465	0.022	B	0.21360	0.034	T	0.47484	-0.9114	10	0.02654	T	1	.	10.7581	0.46249	0.579:0.0:0.421:0.0	.	134	P12319	FCERA_HUMAN	S	134;101	ENSP00000357097:G134S;ENSP00000357096:G101S	ENSP00000357096:G101S	G	+	1	0	FCER1A	157542470	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.541000	0.06099	-1.103000	0.03019	-0.813000	0.03139	GGT		0.468	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001	
DUSP27	92235	broad.mit.edu	37	1	167097485	167097485	+	Silent	SNP	C	C	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:167097485C>A	ENST00000361200.2	+	6	3283	c.3117C>A	c.(3115-3117)ccC>ccA	p.P1039P	DUSP27_ENST00000443333.1_Silent_p.P1039P|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.P1039P			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1039					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCCAGAGCCCTACTTCTTCC	0.587																																						uc001geb.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3115-3117)ccC>ccA		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.							34.0	39.0	37.0					1																	167097485		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097485C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3117C>A	1.37:g.167097485C>A							p.P1039P	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	3133	+			1039					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.3117C>A	CCDS30932.1																																																																																				0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
HMCN1	83872	broad.mit.edu	37	1	185878633	185878633	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:185878633T>A	ENST00000271588.4	+	5	1015	c.786T>A	c.(784-786)aaT>aaA	p.N262K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N262K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	262					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATTCGCAATCCTTTAGGTG	0.363																																						uc001grq.1																			0		p.R261H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(784-786)aaT>aaA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							98.0	91.0	93.0					1																	185878633		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185878633T>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.786T>A	1.37:g.185878633T>A	ENSP00000271588:p.Asn262Lys						p.N262K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			4	1015	+			262					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.786T>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.379346	0.42207	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.14;-0.15	6.07	4.95	0.65309	.	0.257927	0.47093	D	0.000259	T	0.53642	0.1809	L	0.43152	1.355	0.38331	D	0.943801	B	0.32573	0.376	B	0.30401	0.115	T	0.59166	-0.7505	10	0.72032	D	0.01	.	11.9349	0.52868	0.0:0.0673:0.0:0.9327	.	262	Q96RW7	HMCN1_HUMAN	K	262	ENSP00000271588:N262K;ENSP00000356462:N262K	ENSP00000271588:N262K	N	+	3	2	HMCN1	184145256	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	1.566000	0.36396	1.126000	0.42016	0.477000	0.44152	AAT		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
LAMB3	3914	broad.mit.edu	37	1	209790792	209790792	+	Missense_Mutation	SNP	G	G	A	rs368115484		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:209790792G>A	ENST00000356082.4	-	21	3325	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	LAMB3_ENST00000367030.3_Missense_Mutation_p.A1064V|LAMB3_ENST00000391911.1_Missense_Mutation_p.A1064V	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1064	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCACCTTCCGCAAGCTGCTG	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0					uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	GRCh37	CP025158	LAMB3	X		c.(3190-3192)gCg>gTg		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	75.0	73.0	74.0		3191,3191,3191	5.8	0.4	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1064/1173,1064/1173,1064/1173	209790792	1,13005	2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209790792G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3191C>T	1.37:g.209790792G>A	ENSP00000348384:p.Ala1064Val					LAMB3_uc009xco.3_Missense_Mutation_p.A1064V|LAMB3_uc001hhh.3_Missense_Mutation_p.A1064V	p.A1064V	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	19	3581	-			1064			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3191C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652405	0.67472	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.78003	1.89;1.89;1.89;-1.14	5.77	5.77	0.91146	.	0.109031	0.64402	D	0.000010	T	0.70527	0.3234	L	0.34521	1.04	0.44323	D	0.997209	P	0.51351	0.944	B	0.41917	0.37	T	0.75639	-0.3248	10	0.87932	D	0	.	15.5396	0.76031	0.0:0.0:1.0:0.0	.	1064	Q13751	LAMB3_HUMAN	V	1064;1064;1064;133	ENSP00000375778:A1064V;ENSP00000348384:A1064V;ENSP00000355997:A1064V;ENSP00000398683:A133V	ENSP00000348384:A1064V	A	-	2	0	LAMB3	207857415	0.980000	0.34600	0.383000	0.26132	0.309000	0.27889	5.823000	0.69272	2.743000	0.94032	0.456000	0.33151	GCG		0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
LAMB3	3914	broad.mit.edu	37	1	209801465	209801465	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:209801465G>C	ENST00000356082.4	-	11	1337	c.1203C>G	c.(1201-1203)tgC>tgG	p.C401W	LAMB3_ENST00000367030.3_Missense_Mutation_p.C401W|LAMB3_ENST00000391911.1_Missense_Mutation_p.C401W	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	401	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CATGCTCCTTGCACACACACT	0.642											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hhg.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1201-1203)tgC>tgG		Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.							57.0	41.0	46.0					1																	209801465		2200	4298	6498	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209801465G>C	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1203C>G	1.37:g.209801465G>C	ENSP00000348384:p.Cys401Trp		OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2185	LAMB3_uc009xco.3_Missense_Mutation_p.C401W|LAMB3_uc001hhh.3_Missense_Mutation_p.C401W|LAMB3_uc010psl.1_Non-coding_Transcript	p.C401W	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	9	1593	-			401			Laminin EGF-like 3.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1203C>G	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314398	0.40996	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	D;D;D	0.94330	-3.4;-3.4;-3.4	5.12	2.23	0.28157	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97949	0.9325	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95774	0.8811	10	0.87932	D	0	.	8.2499	0.31710	0.3903:0.0:0.6097:0.0	.	401	Q13751	LAMB3_HUMAN	W	401	ENSP00000375778:C401W;ENSP00000348384:C401W;ENSP00000355997:C401W	ENSP00000348384:C401W	C	-	3	2	LAMB3	207868088	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	1.537000	0.36083	0.280000	0.22209	0.456000	0.33151	TGC		0.642	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
DIEXF	27042	broad.mit.edu	37	1	210001468	210001468	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:210001468G>C	ENST00000491415.2	+	1	117	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	20					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTAAAAAGCAGAAGAAACATC	0.547											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hhr.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(58-60)caG>caC		Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.							79.0	76.0	77.0					1																	210001468		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210001468G>C	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.60G>C	1.37:g.210001468G>C	ENSP00000419005:p.Gln20His		OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2187	DIEXF_uc009xcu.2_5'UTR	p.Q20H	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN			0	157	+			20					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.60G>C	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733273	0.89482	.	.	ENSG00000117597	ENST00000491415	T	0.48522	0.81	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.68593	2.085	0.54753	D	0.99998	D	0.65815	0.995	D	0.77557	0.99	T	0.70714	-0.4796	10	0.62326	D	0.03	-21.2024	18.407	0.90539	0.0:0.0:1.0:0.0	.	20	Q68CQ4	DIEXF_HUMAN	H	20	ENSP00000419005:Q20H	ENSP00000419005:Q20H	Q	+	3	2	DIEXF	208068091	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.796000	0.55507	2.427000	0.82271	0.655000	0.94253	CAG		0.547	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388	
DIEXF	27042	broad.mit.edu	37	1	210001493	210001493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:210001493G>T	ENST00000491415.2	+	1	142	c.85G>T	c.(85-87)Gag>Tag	p.E29*		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	29					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGATTTCGGCGAGGAGCATCC	0.547											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hhr.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(85-87)Gag>Tag		Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.							62.0	58.0	59.0					1																	210001493		2203	4300	6503	SO:0001587	stop_gained	27042				multicellular organismal development	nucleus		g.chr1:210001493G>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.85G>T	1.37:g.210001493G>T	ENSP00000419005:p.Glu29*		OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2187	DIEXF_uc009xcu.2_5'UTR	p.E29*	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN			0	182	+			29					O75992|Q4VY00|Q63HL9	Nonsense_Mutation	SNP	ENST00000491415.2	37	c.85G>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	38	6.993548	0.97987	.	.	ENSG00000117597	ENST00000491415	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-26.2334	18.407	0.90539	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000419005:E29X	E	+	1	0	DIEXF	208068116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.506000	0.73712	2.427000	0.82271	0.655000	0.94253	GAG		0.547	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388	
PGBD2	267002	broad.mit.edu	37	1	249212387	249212387	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:249212387G>A	ENST00000329291.5	+	3	1751	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	PGBD2_ENST00000539153.1_Missense_Mutation_p.G532E|PGBD2_ENST00000355360.4_Missense_Mutation_p.G284E	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	535										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACATCTCAAGGGAGGCGAAGC	0.547																																						uc001ifh.3																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(1603-1605)gGg>gAg		Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.							91.0	88.0	89.0					1																	249212387		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249212387G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1604G>A	1.37:g.249212387G>A	ENSP00000331643:p.Gly535Glu					PGBD2_uc001ifg.3_Missense_Mutation_p.G284E|PGBD2_uc009xhd.3_Missense_Mutation_p.G532E|PGBD2_uc021pmh.1_Missense_Mutation_p.G284E	p.G535E	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	1751	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	535					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1604G>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	7.008	0.556249	0.13436	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.16073	2.37;2.52;2.52	3.05	2.09	0.27110	.	0.572041	0.15256	N	0.272022	T	0.25901	0.0631	L	0.50333	1.59	0.09310	N	1	D;P	0.89917	1.0;0.89	D;B	0.97110	1.0;0.42	T	0.09228	-1.0684	10	0.02654	T	1	.	7.8999	0.29729	0.0:0.256:0.744:0.0	.	532;535	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	E	284;535;532	ENSP00000355424:G284E;ENSP00000331643:G535E;ENSP00000439950:G532E	ENSP00000331643:G535E	G	+	2	0	PGBD2	247179010	1.000000	0.71417	0.007000	0.13788	0.003000	0.03518	3.764000	0.55264	0.793000	0.33875	0.467000	0.42956	GGG		0.547	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1		
PGBD2	267002	broad.mit.edu	37	1	249212544	249212544	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:249212544G>T	ENST00000329291.5	+	3	1908	c.1761G>T	c.(1759-1761)agG>agT	p.R587S	PGBD2_ENST00000539153.1_Missense_Mutation_p.R584S|PGBD2_ENST00000355360.4_Missense_Mutation_p.R336S	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	587										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AATGCTTCAGGGAGTACCACA	0.478																																						uc001ifh.3																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(1759-1761)agG>agT		Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.							118.0	121.0	120.0					1																	249212544		2202	4299	6501	SO:0001583	missense	267002							g.chr1:249212544G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1761G>T	1.37:g.249212544G>T	ENSP00000331643:p.Arg587Ser					PGBD2_uc001ifg.3_Missense_Mutation_p.R336S|PGBD2_uc009xhd.3_Missense_Mutation_p.R584S|PGBD2_uc021pmh.1_Missense_Mutation_p.R336S	p.R587S	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	1908	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	587					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1761G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	5.807	0.333173	0.11013	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.83506	-1.73;-1.73;-1.73	3.22	1.26	0.21427	.	0.103999	0.35903	N	0.002904	T	0.66366	0.2782	L	0.29908	0.895	0.22629	N	0.998911	P;B	0.46512	0.879;0.008	B;B	0.42738	0.396;0.011	T	0.60505	-0.7250	10	0.07990	T	0.79	.	3.9299	0.09279	0.1284:0.0:0.6379:0.2338	.	584;587	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	S	336;587;584	ENSP00000355424:R336S;ENSP00000331643:R587S;ENSP00000439950:R584S	ENSP00000331643:R587S	R	+	3	2	PGBD2	247179167	1.000000	0.71417	0.289000	0.24876	0.028000	0.11728	1.253000	0.32886	0.347000	0.23924	-0.293000	0.09583	AGG		0.478	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1		
LBX1	10660	broad.mit.edu	37	10	102987489	102987489	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr10:102987489C>T	ENST00000370193.2	-	2	1362	c.384G>A	c.(382-384)tcG>tcA	p.S128S	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	128					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AGGCCGTGCGCGACTTTCGCC	0.587																																						uc001ksx.3																			0				large_intestine(2)|lung(4)|ovary(1)	7						c.(382-384)tcG>tcA		Homo sapiens ladybird homeobox 1 (LBX1), mRNA.							45.0	46.0	46.0					10																	102987489		2201	4296	6497	SO:0001819	synonymous_variant	10660				muscle organ development		sequence-specific DNA binding	g.chr10:102987489C>T	X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.384G>A	10.37:g.102987489C>T						FLJ41350_uc010qpy.2_5'Flank	p.S128S	NM_006562	NP_006553	P52954	LBX1_HUMAN		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)	1	529	-		Colorectal(252;0.234)	128					B9EGA2|Q05BB2	Silent	SNP	ENST00000370193.2	37	c.384G>A	CCDS31270.1																																																																																				0.587	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562	
OR52B2	255725	broad.mit.edu	37	11	6190634	6190634	+	Missense_Mutation	SNP	C	C	T	rs147668114	byFrequency	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:6190634C>T	ENST00000530810.1	-	1	1004	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R308Q(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCAAAGAACCGGTGGGCTAC	0.478																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.2																			2	Substitution - Missense(2)	p.R308Q(3)|p.R308R(1)	central_nervous_system(2)	NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(922-924)cGg>cAg		Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.							69.0	68.0	68.0					11																	6190634		1923	4131	6054	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190634C>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.923G>A	11.37:g.6190634C>T	ENSP00000432011:p.Arg308Gln						p.R308Q	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	923	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	308					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.923G>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426869	0.62733	.	.	ENSG00000255307	ENST00000530810	T	0.37411	1.2	4.86	2.82	0.32997	.	.	.	.	.	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13019	-1.0525	9	0.66056	D	0.02	.	5.6953	0.17853	0.2413:0.6578:0.0:0.1009	.	308	Q96RD2	O52B2_HUMAN	Q	308	ENSP00000432011:R308Q	ENSP00000432011:R308Q	R	-	2	0	OR52B2	6147210	0.100000	0.21855	0.320000	0.25306	0.868000	0.49771	0.878000	0.28126	1.295000	0.44724	0.440000	0.28878	CGG		0.478	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052	
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:15260573G>C	ENST00000379554.3	+	11	1533	c.1487G>C	c.(1486-1488)cGt>cCt	p.R496P	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Missense_Mutation_p.R449P|INSC_ENST00000528567.1_Missense_Mutation_p.R449P|INSC_ENST00000525218.1_Missense_Mutation_p.R407P|INSC_ENST00000424273.1_Missense_Mutation_p.R407P|INSC_ENST00000379556.3_Missense_Mutation_p.R449P	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	496					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607																																						uc001mlz.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1345-1347)cGt>cCt		Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.							51.0	53.0	52.0					11																	15260573		2086	4206	6292	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260573G>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1487G>C	11.37:g.15260573G>C	ENSP00000368872:p.Arg496Pro					INSC_uc001mly.3_Missense_Mutation_p.R496P|INSC_uc001mma.3_Missense_Mutation_p.R449P|INSC_uc010rcs.2_Missense_Mutation_p.R484P|INSC_uc001mmb.3_Missense_Mutation_p.R449P|INSC_uc001mmc.3_Missense_Mutation_p.R407P	p.R449P	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN			10	1457	+			496					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1346G>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969858	0.92855	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.69654	-0.5087	10	0.72032	D	0.01	-10.436	19.7365	0.96208	0.0:0.0:1.0:0.0	.	484;407;449;496	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	P	496;449;407;449;449;407	ENSP00000368872:R496P;ENSP00000368874:R449P;ENSP00000389161:R407P;ENSP00000435022:R449P;ENSP00000436194:R449P;ENSP00000436113:R407P	ENSP00000368872:R496P	R	+	2	0	INSC	15217149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.672000	0.90937	0.655000	0.94253	CGT		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
HIPK3	10114	broad.mit.edu	37	11	33362619	33362619	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:33362619C>A	ENST00000303296.4	+	7	2024	c.1719C>A	c.(1717-1719)agC>agA	p.S573R	HIPK3_ENST00000456517.1_Missense_Mutation_p.S573R|HIPK3_ENST00000379016.3_Missense_Mutation_p.S573R|HIPK3_ENST00000525975.1_Missense_Mutation_p.S573R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	573					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTGCTTCAAGCAGTACTGCTA	0.318																																						uc001mul.1																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(1717-1719)agC>agA		Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.							68.0	63.0	64.0					11																	33362619		2202	4295	6497	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33362619C>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1719C>A	11.37:g.33362619C>A	ENSP00000304226:p.Ser573Arg					HIPK3_uc001mum.1_Missense_Mutation_p.S573R|HIPK3_uc009yjv.1_Missense_Mutation_p.S573R	p.S573R	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			6	1989	+			573					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.1719C>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893692	0.33442	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.53206	0.64;0.63;0.64;0.64	5.68	1.56	0.23342	.	0.609454	0.16267	N	0.221983	T	0.34629	0.0904	L	0.34521	1.04	0.09310	N	1	P;B	0.39665	0.682;0.141	B;B	0.41619	0.361;0.128	T	0.21724	-1.0237	10	0.72032	D	0.01	.	4.0038	0.09592	0.1529:0.4866:0.0:0.3604	.	573;573	Q9H422-2;Q9H422	.;HIPK3_HUMAN	R	573	ENSP00000431710:S573R;ENSP00000304226:S573R;ENSP00000368301:S573R;ENSP00000398241:S573R	ENSP00000304226:S573R	S	+	3	2	HIPK3	33319195	0.964000	0.33143	0.227000	0.23927	0.985000	0.73830	0.245000	0.18142	0.011000	0.14865	0.650000	0.86243	AGC		0.318	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
DGKZ	8525	broad.mit.edu	37	11	46393049	46393049	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:46393049G>A	ENST00000454345.1	+	9	1344	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	DGKZ_ENST00000395574.3_Missense_Mutation_p.V185M|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000343674.6_Missense_Mutation_p.V235M|DGKZ_ENST00000318201.8_Missense_Mutation_p.V196M|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.V223M|DGKZ_ENST00000421244.2_Missense_Mutation_p.V219M|DGKZ_ENST00000456247.2_Missense_Mutation_p.V218M|DGKZ_ENST00000527911.1_Missense_Mutation_p.V219M	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	407					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCACAGCAAGGTGTCCTGCTT	0.701																																						uc001ncn.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(1219-1221)Gtg>Atg		Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.							33.0	39.0	37.0					11																	46393049		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46393049G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1219G>A	11.37:g.46393049G>A	ENSP00000412178:p.Val407Met					DGKZ_uc001nch.2_Missense_Mutation_p.V235M|DGKZ_uc010rgq.2_Missense_Mutation_p.V201M|DGKZ_uc010rgr.2_Missense_Mutation_p.V223M|DGKZ_uc001ncj.2_Missense_Mutation_p.V185M|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Missense_Mutation_p.V218M|DGKZ_uc001ncl.2_Missense_Mutation_p.V219M|DGKZ_uc009yky.1_Missense_Mutation_p.V219M|DGKZ_uc010rgs.1_Missense_Mutation_p.V196M	p.V407M	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	8	1344	+			407					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.1219G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772911	0.90108	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T	0.26957	2.3;2.5;2.55;3.48;2.3;2.37;2.48;1.7	5.07	5.07	0.68467	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.056514	0.64402	D	0.000001	T	0.33933	0.0880	L	0.40543	1.245	0.80722	D	1	B;P;P;P;P;P;P;P;P	0.45768	0.382;0.571;0.866;0.835;0.792;0.516;0.802;0.74;0.571	B;B;B;P;B;B;P;P;B	0.49477	0.091;0.285;0.391;0.612;0.411;0.187;0.477;0.513;0.285	T	0.03354	-1.1045	10	0.49607	T	0.09	.	18.8612	0.92273	0.0:0.0:1.0:0.0	.	196;184;162;219;407;218;219;185;235	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	M	235;185;184;219;218;219;196;407	ENSP00000343065:V235M;ENSP00000378941:V185M;ENSP00000436273:V184M;ENSP00000436291:V219M;ENSP00000395684:V218M;ENSP00000391021:V219M;ENSP00000320340:V196M;ENSP00000412178:V407M	ENSP00000320340:V196M	V	+	1	0	DGKZ	46349625	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.863000	0.99569	2.536000	0.85505	0.561000	0.74099	GTG		0.701	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
PEX5	5830	broad.mit.edu	37	12	7343512	7343512	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:7343512A>G	ENST00000455147.2	+	4	756	c.176A>G	c.(175-177)gAa>gGa	p.E59G	PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000420616.2_Missense_Mutation_p.E59G|PEX5_ENST00000434354.2_Missense_Mutation_p.E74G|PEX5_ENST00000266564.3_Missense_Mutation_p.E59G|PEX5_ENST00000412720.2_Missense_Mutation_p.E80G|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000266563.5_Missense_Mutation_p.E59G|RP11-273B20.3_ENST00000545794.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	59					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTAGCTTCTGAAGATGAGGTA	0.428																																						uc009zfu.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(175-177)gAa>gGa		Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.							192.0	184.0	187.0					12																	7343512		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7343512A>G	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.176A>G	12.37:g.7343512A>G	ENSP00000400647:p.Glu59Gly					PEX5_uc001qsw.3_Missense_Mutation_p.E59G|PEX5_uc010sgc.2_Missense_Mutation_p.E74G|PEX5_uc001qsu.3_Missense_Mutation_p.E59G|PEX5_uc010sgd.2_Missense_Mutation_p.E80G|PEX5_uc001qsv.3_Missense_Mutation_p.E59G	p.E59G	NM_001131026	NP_001124498	P50542	PEX5_HUMAN			3	756	+			59					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.176A>G	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026058	0.54683	.	.	ENSG00000139197	ENST00000542539;ENST00000455147;ENST00000540398;ENST00000266563;ENST00000434354;ENST00000544456;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000536841;ENST00000537873;ENST00000266564	D;D;D;D;D;D;D	0.88896	-2.38;-2.38;-2.44;-2.38;-2.39;-2.21;-2.39	4.62	4.62	0.57501	.	0.133236	0.49305	D	0.000142	D	0.91526	0.7324	L	0.47016	1.485	0.54753	D	0.999982	D;P;P;P;B	0.76494	0.999;0.902;0.624;0.475;0.281	D;P;B;B;B	0.81914	0.995;0.546;0.333;0.159;0.122	D	0.90376	0.4384	10	0.33940	T	0.23	.	13.6892	0.62535	1.0:0.0:0.0:0.0	.	80;74;59;59;59	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	G	59;59;59;59;74;59;59;80;74;59;59;59	ENSP00000400647:E59G;ENSP00000266563:E59G;ENSP00000407401:E74G;ENSP00000410159:E59G;ENSP00000391601:E80G;ENSP00000379877:E74G;ENSP00000266564:E59G	ENSP00000266563:E59G	E	+	2	0	PEX5	7234779	1.000000	0.71417	0.999000	0.59377	0.251000	0.25915	6.357000	0.73051	1.739000	0.51704	0.402000	0.26972	GAA		0.428	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	
CD163	9332	broad.mit.edu	37	12	7651670	7651670	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:7651670T>A	ENST00000359156.4	-	4	774	c.572A>T	c.(571-573)gAt>gTt	p.D191V	CD163_ENST00000396620.3_Missense_Mutation_p.D191V|CD163_ENST00000432237.2_Missense_Mutation_p.D191V|CD163_ENST00000541972.1_Missense_Mutation_p.D179V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	191	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGATGCATGATCTATGTTGAA	0.428																																						uc001qsz.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(571-573)gAt>gTt		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							282.0	258.0	266.0					12																	7651670		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651670T>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.572A>T	12.37:g.7651670T>A	ENSP00000352071:p.Asp191Val					CD163_uc001qta.3_Missense_Mutation_p.D191V|CD163_uc009zfw.2_Missense_Mutation_p.D191V	p.D191V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			3	700	-			191			SRCR 2.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.572A>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	2.730	-0.264703	0.05754	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.16	3.93	0.45458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.439230	0.03899	N	0.280066	T	0.29423	0.0733	N	0.16602	0.42	0.18873	N	0.999986	B;B;P	0.40731	0.084;0.302;0.728	B;B;B	0.40982	0.112;0.051;0.345	T	0.24333	-1.0163	10	0.39692	T	0.17	.	10.1154	0.42587	0.0:0.0:0.1679:0.8321	.	191;191;191	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	191;179;191;191	ENSP00000352071:D191V;ENSP00000444071:D179V;ENSP00000379863:D191V;ENSP00000403885:D191V	ENSP00000352071:D191V	D	-	2	0	CD163	7542937	0.000000	0.05858	0.003000	0.11579	0.169000	0.22640	-0.045000	0.12003	2.080000	0.62538	0.528000	0.53228	GAT		0.428	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
METTL7A	25840	broad.mit.edu	37	12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:51319018C>T	ENST00000548553.1	+	2	1178	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	66						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.A66V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552																																						uc001rxb.3																			1	Substitution - Missense(1)	p.A66V(2)	lung(1)	endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(196-198)gCg>gTg		Homo sapiens methyltransferase like 7A (METTL7A), mRNA.							41.0	41.0	41.0					12																	51319018		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319018C>T		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.197C>T	12.37:g.51319018C>T	ENSP00000448785:p.Ala66Val					METTL7A_uc010smv.1_Missense_Mutation_p.A66V	p.A66V	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			0	485	+			66					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.197C>T	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439444	0.25900	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.16597	2.33;2.33;2.33	5.0	-1.08	0.09936	.	0.852961	0.10781	N	0.634907	T	0.09598	0.0236	L	0.34521	1.04	0.09310	N	1	B;B	0.16802	0.017;0.019	B;B	0.12837	0.003;0.008	T	0.38993	-0.9635	10	0.20519	T	0.43	-1.5348	2.5233	0.04685	0.1123:0.4458:0.1094:0.3324	.	66;66	B4DDW1;Q9H8H3	.;MET7A_HUMAN	V	66	ENSP00000448785:A66V;ENSP00000450239:A66V;ENSP00000331787:A66V	ENSP00000331787:A66V	A	+	2	0	METTL7A	49605285	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	0.002000	0.13061	-0.304000	0.08843	-0.140000	0.14226	GCG		0.552	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033	
TRHDE	29953	broad.mit.edu	37	12	73056901	73056901	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:73056901G>A	ENST00000261180.4	+	19	3097	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1001					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGAAACTGTCGAAGCCAATGT	0.373																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(3001-3003)Gaa>Aaa		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							62.0	64.0	63.0					12																	73056901		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056901G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3001G>A	12.37:g.73056901G>A	ENSP00000261180:p.Glu1001Lys						p.E1001K	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			18	3031	+			1001					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.3001G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898303	0.17686	.	.	ENSG00000072657	ENST00000261180	T	0.01252	5.1	5.35	5.35	0.76521	.	0.110818	0.64402	D	0.000008	T	0.01156	0.0038	N	0.05383	-0.06	0.58432	D	0.999995	B	0.31383	0.321	B	0.28991	0.097	T	0.70601	-0.4827	10	0.11794	T	0.64	.	19.4305	0.94762	0.0:0.0:1.0:0.0	.	1001	Q9UKU6	TRHDE_HUMAN	K	1001	ENSP00000261180:E1001K	ENSP00000261180:E1001K	E	+	1	0	TRHDE	71343168	1.000000	0.71417	0.959000	0.39883	0.973000	0.67179	6.898000	0.75676	2.673000	0.90976	0.557000	0.71058	GAA		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
NAP1L1	4673	broad.mit.edu	37	12	76447581	76447581	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:76447581A>C	ENST00000261182.8	-	9	1225	c.739T>G	c.(739-741)Ttt>Gtt	p.F247V	NAP1L1_ENST00000393263.3_Missense_Mutation_p.F247V|NAP1L1_ENST00000552342.1_Missense_Mutation_p.F258V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.F64V|NAP1L1_ENST00000547993.1_Missense_Mutation_p.F64V|NAP1L1_ENST00000535020.2_Missense_Mutation_p.F247V|NAP1L1_ENST00000549596.1_Missense_Mutation_p.F247V|NAP1L1_ENST00000548044.1_Missense_Mutation_p.F206V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.F205V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.F179V|NAP1L1_ENST00000547773.1_Missense_Mutation_p.F184V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	247					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGTCCATCAAAAGAAAAGGGA	0.333																																						uc001sxw.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(739-741)Ttt>Gtt		Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.							72.0	73.0	72.0					12																	76447581		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76447581A>C		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.739T>G	12.37:g.76447581A>C	ENSP00000261182:p.Phe247Val					NAP1L1_uc001sxz.2_Missense_Mutation_p.F178V|NAP1L1_uc010stz.1_Missense_Mutation_p.F64V|NAP1L1_uc001sxx.2_Missense_Mutation_p.F247V|NAP1L1_uc010sty.1_Missense_Mutation_p.F204V|NAP1L1_uc010sua.1_Missense_Mutation_p.F247V|NAP1L1_uc001syb.3_Missense_Mutation_p.F247V	p.F247V	NM_139207	NP_631946	P55209	NP1L1_HUMAN			8	1151	-		Colorectal(145;0.09)	247					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.739T>G	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790207	0.90367	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.86	5.58	5.58	0.84498	.	0.045340	0.85682	D	0.000000	T	0.73877	0.3643	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999;0.999;0.992	D;D;D;D;D;D;D	0.87578	0.996;0.998;0.982;0.998;0.992;0.986;0.958	T	0.79482	-0.1785	10	0.66056	D	0.02	.	15.8236	0.78678	1.0:0.0:0.0:0.0	.	247;205;258;247;179;184;247	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	V	247;241;247;179;184;64;205;247;247;64;258;206;220;247;206	ENSP00000261182:F247V;ENSP00000450236:F241V;ENSP00000376947:F247V;ENSP00000409795:F179V;ENSP00000448167:F184V;ENSP00000437507:F64V;ENSP00000444759:F205V;ENSP00000445008:F247V;ENSP00000447793:F247V;ENSP00000448007:F64V;ENSP00000447196:F258V;ENSP00000449649:F206V;ENSP00000448133:F220V;ENSP00000448764:F247V;ENSP00000446787:F206V	ENSP00000261182:F247V	F	-	1	0	NAP1L1	74733848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	2.135000	0.66039	0.524000	0.50904	TTT		0.333	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207	
CRY1	1407	broad.mit.edu	37	12	107393552	107393552	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:107393552C>T	ENST00000008527.5	-	7	1781	c.914G>A	c.(913-915)cGc>cAc	p.R305H		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	305					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TTTATCAAAGCGTGGATTATT	0.433																																						uc001tmi.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(913-915)cGc>cAc		Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.							53.0	53.0	53.0					12																	107393552		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393552C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.914G>A	12.37:g.107393552C>T	ENSP00000008527:p.Arg305His						p.R305H	NM_004075	NP_004066	Q16526	CRY1_HUMAN			6	1773	-			305			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.914G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570520	0.65765	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.79	5.79	0.91817	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.046375	0.85682	D	0.000000	T	0.48714	0.1515	N	0.16016	0.355	0.58432	D	0.999997	B	0.13594	0.008	B	0.15484	0.013	T	0.34650	-0.9820	9	0.25106	T	0.35	-11.8189	20.0308	0.97536	0.0:1.0:0.0:0.0	.	305	Q16526	CRY1_HUMAN	H	305	.	ENSP00000008527:R305H	R	-	2	0	CRY1	105917682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.706000	0.47135	2.732000	0.93576	0.585000	0.79938	CGC		0.433	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075	
PCDH9	5101	broad.mit.edu	37	13	67802035	67802035	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr13:67802035C>T	ENST00000377865.2	-	1	672	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	PCDH9_ENST00000328454.5_Missense_Mutation_p.E180K|PCDH9_ENST00000377861.3_Missense_Mutation_p.E180K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E180K|PCDH9_ENST00000544246.1_Missense_Mutation_p.E180K			Q9HC56	PCDH9_HUMAN	protocadherin 9	180	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		TTTAACAATTCATAATGCTGT	0.423																																						uc001vik.3																			0				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						c.(538-540)Gaa>Aaa		Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.							121.0	123.0	122.0					13																	67802035		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802035C>T	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.538G>A	13.37:g.67802035C>T	ENSP00000367096:p.Glu180Lys					PCDH9_uc001vil.3_Missense_Mutation_p.E180K|PCDH9_uc010thl.2_Missense_Mutation_p.E180K|PCDH9_uc001vin.3_Missense_Mutation_p.E180K	p.E180K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	1	1230	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	180			Cadherin 2.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.538G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322143	0.60634	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	N	0.17631	0.505	0.80722	D	1	B;B;P;P	0.37370	0.182;0.198;0.537;0.592	B;B;B;P	0.44422	0.173;0.192;0.32;0.449	T	0.37267	-0.9713	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	180;180;180;180	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	180	ENSP00000442186:E180K;ENSP00000367096:E180K;ENSP00000401699:E180K;ENSP00000332060:E180K;ENSP00000367092:E180K	ENSP00000332060:E180K	E	-	1	0	PCDH9	66700036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
FOXA1	3169	broad.mit.edu	37	14	38060635	38060635	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr14:38060635G>C	ENST00000250448.2	-	2	1415	c.1354C>G	c.(1354-1356)Ccc>Gcc	p.P452A	FOXA1_ENST00000540786.1_Missense_Mutation_p.P419A|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	452					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGGCTGAGGGCTCGATGGGG	0.617																																						uc001wuf.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1354-1356)Ccc>Gcc		Homo sapiens forkhead box A1 (FOXA1), mRNA.							62.0	66.0	65.0					14																	38060635		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060635G>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1354C>G	14.37:g.38060635G>C	ENSP00000250448:p.Pro452Ala					FOXA1_uc010tpz.2_Missense_Mutation_p.P419A	p.P452A	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	1666	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		452					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.1354C>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401470	0.25291	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.40476	1.03;1.03	4.13	4.13	0.48395	Forkhead box protein, C-terminal (1);	0.143262	0.48286	D	0.000186	T	0.41073	0.1143	L	0.59436	1.845	0.46542	D	0.999099	B	0.24920	0.114	B	0.23150	0.044	T	0.40098	-0.9581	10	0.45353	T	0.12	.	15.3049	0.73985	0.0:0.0:1.0:0.0	.	452	P55317	FOXA1_HUMAN	A	452;419	ENSP00000250448:P452A;ENSP00000440178:P419A	ENSP00000250448:P452A	P	-	1	0	FOXA1	37130386	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.591000	0.82666	2.128000	0.65567	0.400000	0.26472	CCC		0.617	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
LPCAT4	254531	broad.mit.edu	37	15	34653631	34653631	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr15:34653631C>T	ENST00000314891.6	-	11	1290	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	371					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CACCAGCCACCGTCTGAGGAT	0.587																																						uc001zig.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(1111-1113)acG>acA		Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.							85.0	82.0	83.0					15																	34653631		2201	4298	6499	SO:0001819	synonymous_variant	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34653631C>T	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1113G>A	15.37:g.34653631C>T							p.T371T	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN			10	1207	-			371					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Silent	SNP	ENST00000314891.6	37	c.1113G>A	CCDS32191.1																																																																																				0.587	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613	
ITGA11	22801	broad.mit.edu	37	15	68612685	68612685	+	Silent	SNP	G	G	A	rs376522259		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr15:68612685G>A	ENST00000315757.7	-	20	2540	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	ITGA11_ENST00000423218.2_Silent_p.S818S	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	818					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GCGTGTATGCGGAGCAGTCCT	0.592																																						uc010bib.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2452-2454)tcC>tcT		Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	Tirofiban(DB00775)	G		0,4202		0,0,2101	43.0	44.0	44.0		2454	-4.7	0.0	15		44	1,8467		0,1,4233	no	coding-synonymous	ITGA11	NM_001004439.1		0,1,6334	AA,AG,GG		0.0118,0.0,0.0079		818/1189	68612685	1,12669	2101	4234	6335	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68612685G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2454C>T	15.37:g.68612685G>A						ITGA11_uc002ari.3_Silent_p.S818S	p.S818S	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			19	2541	-			818					J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.2454C>T	CCDS45291.1																																																																																				0.592	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
SETD1A	9739	broad.mit.edu	37	16	30976386	30976386	+	Silent	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr16:30976386T>C	ENST00000262519.8	+	7	2009	c.1323T>C	c.(1321-1323)ggT>ggC	p.G441G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	441	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGAACCTGGTGGAGGCGGGG	0.716																																						uc002ead.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(1321-1323)ggT>ggC		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							18.0	24.0	22.0					16																	30976386		2121	4200	6321	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976386T>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1323T>C	16.37:g.30976386T>C							p.G441G	NM_014712	NP_055527	O15047	SET1A_HUMAN			6	2009	+			441			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.1323T>C	CCDS32435.1																																																																																				0.716	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
PRSS36	146547	broad.mit.edu	37	16	31159857	31159857	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr16:31159857C>T	ENST00000268281.4	-	5	470	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	PRSS36_ENST00000418068.2_Missense_Mutation_p.A138T|PRSS36_ENST00000569305.1_Missense_Mutation_p.A138T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	138	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCAGGTCGGCGCCCAGCTCC	0.756																																						uc002ebd.3																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(412-414)Gcc>Acc		Homo sapiens protease, serine, 36 (PRSS36), mRNA.							6.0	8.0	7.0					16																	31159857		1903	3828	5731	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31159857C>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.412G>A	16.37:g.31159857C>T	ENSP00000268281:p.Ala138Thr					PRSS36_uc010vff.2_5'UTR|PRSS36_uc010vfg.2_Missense_Mutation_p.A138T|PRSS36_uc010vfh.2_Missense_Mutation_p.A138T	p.A138T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			4	471	-			138			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.412G>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667447	0.67814	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.81579	-1.51;-1.51	4.61	1.17	0.20885	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.82866	0.5130	L	0.52206	1.635	0.09310	N	0.999997	B;D;D	0.76494	0.373;0.998;0.999	B;P;P	0.60541	0.104;0.876;0.826	T	0.71686	-0.4518	9	0.33940	T	0.23	.	10.6453	0.45617	0.4754:0.5246:0.0:0.0	.	138;138;138	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	T	138	ENSP00000268281:A138T;ENSP00000407160:A138T	ENSP00000268281:A138T	A	-	1	0	PRSS36	31067358	0.001000	0.12720	0.059000	0.19551	0.720000	0.41350	-1.439000	0.02414	0.442000	0.26555	0.555000	0.69702	GCC		0.756	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
POLR2A	5430	broad.mit.edu	37	17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:7399844G>A	ENST00000322644.6	+	4	848	c.449G>A	c.(448-450)gGc>gAc	p.G150D	POLR2A_ENST00000572844.1_Missense_Mutation_p.G150D	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	150					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537																																						uc002ghf.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(448-450)gGc>gAc		Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.							143.0	147.0	146.0					17																	7399844		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7399844G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.449G>A	17.37:g.7399844G>A	ENSP00000314949:p.Gly150Asp					POLR2A_uc002ghe.3_Missense_Mutation_p.G150D	p.G150D	NM_000937	NP_000928	P24928	RPB1_HUMAN			3	835	+		Prostate(122;0.173)	150					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.449G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987562	0.74589	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.20881	2.04	5.5	5.5	0.81552	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.59967	1.855	0.80722	D	1	B;D	0.53151	0.108;0.958	B;P	0.58130	0.188;0.833	T	0.15838	-1.0423	10	0.87932	D	0	.	18.1636	0.89718	0.0:0.0:1.0:0.0	.	150;150	P24928;Q6NX41	RPB1_HUMAN;.	D	106;150	ENSP00000314949:G150D	ENSP00000314949:G150D	G	+	2	0	SLC35G6	7340568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.206000	0.72154	2.589000	0.87451	0.467000	0.42956	GGC		0.537	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
KIAA0100	9703	broad.mit.edu	37	17	26967617	26967617	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:26967617T>C	ENST00000528896.2	-	8	925	c.851A>G	c.(850-852)gAg>gGg	p.E284G	KIAA0100_ENST00000389003.3_Missense_Mutation_p.E141G|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E141G	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	284						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCTTGTGTTCTCCATCTTAAC	0.463																																						uc002hbu.3																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(850-852)gAg>gGg		Homo sapiens KIAA0100 (KIAA0100), mRNA.							172.0	155.0	161.0					17																	26967617		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26967617T>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.851A>G	17.37:g.26967617T>C	ENSP00000436773:p.Glu284Gly					KIAA0100_uc002hbv.3_Missense_Mutation_p.E284G|KIAA0100_uc010crr.2_Missense_Mutation_p.E141G	p.E284G	NM_014680	NP_055495	Q14667	K0100_HUMAN			7	954	-	Lung NSC(42;0.00431)		284					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.851A>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	32	5.162125	0.94727	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.26957	1.72;1.7	5.72	5.72	0.89469	FMP27, N-terminal (1);	0.103825	0.64402	D	0.000003	T	0.33904	0.0879	L	0.32530	0.975	0.58432	D	0.999991	D;P;P	0.63046	0.992;0.925;0.762	P;P;B	0.57101	0.813;0.621;0.396	T	0.02539	-1.1144	10	0.25106	T	0.35	.	16.0037	0.80327	0.0:0.0:0.0:1.0	.	141;284;284	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	G	284;284;284;141	ENSP00000436773:E284G;ENSP00000446443:E141G	ENSP00000005905:E284G	E	-	2	0	KIAA0100	23991744	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.245000	0.78237	2.184000	0.69523	0.533000	0.62120	GAG		0.463	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
TUBG1	7283	broad.mit.edu	37	17	40766544	40766544	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:40766544C>T	ENST00000251413.3	+	10	1089	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	343					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GATCCGGGAACGCAAGTTGGC	0.657																																					Colon(20;114 698 11420 22864)	uc002ian.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1027-1029)Cgc>Tgc		Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.							39.0	45.0	43.0					17																	40766544		2203	4299	6502	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766544C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1027C>T	17.37:g.40766544C>T	ENSP00000251413:p.Arg343Cys						p.R343C	NM_001070	NP_001061	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	9	1425	+		Breast(137;0.00116)	343					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1027C>T	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865077	0.51482	.	.	ENSG00000131462	ENST00000251413	D	0.83914	-1.78	4.21	3.21	0.36854	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.93203	0.7835	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93575	0.6907	10	0.87932	D	0	-15.9353	10.6507	0.45647	0.5695:0.4305:0.0:0.0	.	343	P23258	TBG1_HUMAN	C	343	ENSP00000251413:R343C	ENSP00000251413:R343C	R	+	1	0	TUBG1	38020070	1.000000	0.71417	0.788000	0.31933	0.945000	0.59286	1.494000	0.35616	0.928000	0.37168	0.563000	0.77884	CGC		0.657	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070	
TNFRSF11A	8792	broad.mit.edu	37	18	60021766	60021766	+	Splice_Site	SNP	G	G	A	rs139968917		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr18:60021766G>A	ENST00000586569.1	+	4	464	c.426G>A	c.(424-426)ccG>ccA	p.P142P	TNFRSF11A_ENST00000269485.7_Splice_Site_p.P142P	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	142					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCCAGCACCCGTGTACGGGTT	0.647																																						uc002lin.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.e4+1		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.							27.0	31.0	29.0					18																	60021766		2142	4219	6361	SO:0001630	splice_region_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60021766G>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.427+1G>A	18.37:g.60021766G>A						TNFRSF11A_uc010dpv.3_Splice_Site_p.L143_splice	p.L143_splice	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			4	465	+		Colorectal(73;0.188)	143					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.427_splice	CCDS11980.1																																																																																				0.647	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		Silent
MUC16	94025	broad.mit.edu	37	19	8962003	8962003	+	Silent	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:8962003G>A	ENST00000397910.4	-	83	43577	c.43374C>T	c.(43372-43374)atC>atT	p.I14458I	MUC16_ENST00000380951.5_Silent_p.I1099I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22103	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						CTGCCAAGCCGATGAGGATGA	0.577																																						uc002mkp.3																			0				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						c.(43372-43374)atC>atT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							57.0	60.0	59.0					19																	8962003		2005	4175	6180	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8962003G>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.43374C>T	19.37:g.8962003G>A						MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.I1258I|MUC16_uc021uog.1_Non-coding_Transcript	p.I14458I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			82	43578	-			13929	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.43374C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	0.830	-0.745613	0.03065	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.6	2.46	0.29980	.	.	.	.	.	T	0.42810	0.1219	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50898	-0.8773	3	.	.	.	.	7.3981	0.26948	0.1992:0.0:0.8008:0.0	.	.	.	.	L	1281	.	.	S	-	2	0	MUC16	8823003	1.000000	0.71417	0.993000	0.49108	0.028000	0.11728	1.203000	0.32284	0.688000	0.31529	-0.266000	0.10368	TCG		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
PLPPR2	64748	broad.mit.edu	37	19	11472001	11472001	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:11472001C>T	ENST00000251473.5	+	6	876	c.500C>T	c.(499-501)aCg>aTg	p.T167M	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.T142M	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCCAACTACACGGCCCTGGGC	0.682																																						uc002mrf.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(424-426)aCg>aTg		Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.							64.0	51.0	55.0					19																	11472001		2203	4300	6503	SO:0001583	missense	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11472001C>T																												ENST00000251473.5:c.500C>T	19.37:g.11472001C>T	ENSP00000251473:p.Thr167Met					LPPR2_uc002mre.2_Missense_Mutation_p.T167M|LPPR2_uc010dxy.2_5'UTR	p.T142M	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN			5	801	+			167						Missense_Mutation	SNP	ENST00000251473.5	37	c.425C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.772066	0.90108	.	.	ENSG00000105520	ENST00000251473	T	0.50548	0.74	5.18	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.89287	3.02	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.77787	-0.2457	10	0.87932	D	0	-9.7623	12.8765	0.57994	0.0:0.9188:0.0:0.0812	.	142;167	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	M	167	ENSP00000251473:T167M	ENSP00000251473:T167M	T	+	2	0	AC024575.1	11333001	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.405000	0.66351	1.184000	0.42957	0.450000	0.29827	ACG		0.682	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1		
AD000091.2	0	broad.mit.edu	37	19	15726591	15726591	+	lincRNA	SNP	G	G	A	rs377226039		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:15726591G>A	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA																							CCGCAGCCCCGGAAACAGAAC	0.642																																						uc002nbi.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						c.(163-165)cGg>cAg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.		G	GLN/ARG	0,4390		0,0,2195	41.0	47.0	45.0		164	1.3	0.1	19		45	1,8591		0,1,4295	no	missense	CYP4F8	NM_007253.3	43	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	55/521	15726591	1,12981	2195	4296	6491			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15726591G>A																													19.37:g.15726591G>A						CYP4F8_uc010xoi.1_Missense_Mutation_p.R55Q|CYP4F8_uc010xoj.2_Missense_Mutation_p.G17R	p.R55Q	NM_007253	NP_009184	P98187	CP4F8_HUMAN			1	228	+			55						Missense_Mutation	SNP	ENST00000589196.2	37	c.164G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.83|11.83	1.754751|1.754751	0.31046|0.31046	0.0|0.0	1.16E-4|1.16E-4	ENSG00000186526|ENSG00000186526	ENST00000325723|ENST00000441682	.|.	.|.	.|.	2.32|2.32	1.27|1.27	0.21489|0.21489	.|.	.|0.264460	.|0.27951	.|U	.|0.017187	T|T	0.34542|0.34542	0.0901|0.0901	.|.	.|.	.|.	.|0.22240	.|N	.|0.999268	B|D;B	0.02656|0.69078	0.0|0.997;0.004	B|B;B	0.01281|0.43916	0.0|0.436;0.017	T|T	0.50013|0.50013	-0.8877|-0.8877	6|7	0.32370|0.62326	T|D	0.25|0.03	.|.	7.058|7.058	0.25109|0.25109	0.0:0.7148:0.2852:0.0|0.0:0.7148:0.2852:0.0	.|.	17|55;55	B4DU85|B4DU32;P98187	.|.;CP4F8_HUMAN	R|Q	17|55	.|.	ENSP00000314398:G17R|ENSP00000409702:R55Q	G|R	+|+	1|2	0|0	CYP4F8|CYP4F8	15587591|15587591	0.002000|0.002000	0.14202|0.14202	0.064000|0.064000	0.19789|0.19789	0.016000|0.016000	0.09150|0.09150	0.991000|0.991000	0.29654|0.29654	0.533000|0.533000	0.28675|0.28675	-0.689000|-0.689000	0.03729|0.03729	GGA|CGG		0.642	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460896.2		
PIK3R2	5296	broad.mit.edu	37	19	18277106	18277106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:18277106delT	ENST00000593731.1	+	12	2113	c.1553delT	c.(1552-1554)atgfs	p.M518fs	PIK3R2_ENST00000222254.8_Frame_Shift_Del_p.M518fs			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	518					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GAGAAAGAGATGCAAAGGTGA	0.567																																						uc002nia.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1552-1554)atgfs		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.							51.0	49.0	50.0					19																	18277106		2203	4300	6503	SO:0001589	frameshift_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18277106delT		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1553delT	19.37:g.18277106delT	ENSP00000471914:p.Met518fs					PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	p.M518fs	NM_005027	NP_005018	O00459	P85B_HUMAN			11	2065	+			518					Q5EAT5|Q9UPH9	Frame_Shift_Del	DEL	ENST00000593731.1	37	c.1553delT	CCDS12371.1																																																																																				0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027	
KIRREL2	84063	broad.mit.edu	37	19	36351843	36351843	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:36351843G>A	ENST00000360202.5	+	8	1159	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	KIRREL2_ENST00000347900.6_Missense_Mutation_p.V271M|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.V321M|KIRREL2_ENST00000592409.1_Missense_Mutation_p.V321M	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	321	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCGGAGCCCGTGTCCGTGGA	0.672																																						uc002ocb.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(961-963)Gtg>Atg		Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.							20.0	23.0	22.0					19																	36351843		2194	4297	6491	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351843G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.961G>A	19.37:g.36351843G>A	ENSP00000353331:p.Val321Met					KIRREL2_uc002obz.4_Missense_Mutation_p.V321M|KIRREL2_uc002oca.4_Missense_Mutation_p.V271M|KIRREL2_uc002ocd.4_Missense_Mutation_p.V318M	p.V321M	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1173	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		321			Ig-like C2-type 4.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.961G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	1.526	-0.545693	0.04024	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.13657	2.57;2.57;2.57	4.48	-8.96	0.00761	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.509370	0.04091	N	0.311202	T	0.08758	0.0217	L	0.43757	1.38	0.09310	N	1	B;B;B;B;B	0.23540	0.016;0.013;0.016;0.087;0.032	B;B;B;B;B	0.19391	0.01;0.006;0.025;0.023;0.014	T	0.14952	-1.0454	10	0.29301	T	0.29	-0.0068	2.2567	0.04057	0.1312:0.201:0.4566:0.2113	.	321;301;321;271;321	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	M	321;271;321;301	ENSP00000262625:V321M;ENSP00000345067:V271M;ENSP00000353331:V321M	ENSP00000262625:V321M	V	+	1	0	KIRREL2	41043683	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-2.838000	0.00739	-2.863000	0.00326	0.450000	0.29827	GTG		0.672	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
SLC17A7	57030	broad.mit.edu	37	19	49934369	49934369	+	Missense_Mutation	SNP	G	G	A	rs17855709		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:49934369G>A	ENST00000221485.3	-	11	1463	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	SLC17A7_ENST00000543531.1_Missense_Mutation_p.P419L|SLC17A7_ENST00000600601.1_Missense_Mutation_p.P364L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	431			P -> R (in dbSNP:rs17855709). {ECO:0000269|PubMed:15489334}.		glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCGTAGCGCGGGGCTATGTC	0.607																																						uc002pnp.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1291-1293)cCg>cTg		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.							89.0	73.0	79.0					19																	49934369		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49934369G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1292C>T	19.37:g.49934369G>A	ENSP00000221485:p.Pro431Leu					SLC17A7_uc002pno.3_Missense_Mutation_p.P93L	p.P431L	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	10	1464	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	431		P -> R (in dbSNP:rs17855709).			B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1292C>T	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219352	0.95139	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.68903	-0.36;-0.36	4.23	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100866	0.42172	D	0.000759	D	0.85048	0.5608	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.88776	0.3267	10	0.87932	D	0	.	14.4839	0.67603	0.0:0.0:1.0:0.0	.	431;273	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	L	431;419	ENSP00000221485:P431L;ENSP00000441767:P419L	ENSP00000221485:P431L	P	-	2	0	SLC17A7	54626181	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.287000	0.95975	2.375000	0.81037	0.484000	0.47621	CCG		0.607	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		
HK2	3099	broad.mit.edu	37	2	75081480	75081480	+	Missense_Mutation	SNP	C	C	T	rs372666431		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:75081480C>T	ENST00000290573.2	+	2	724	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	HK2_ENST00000409174.1_Missense_Mutation_p.R14W	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	42	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GATCTCTAAGCGGTTCCGCAA	0.527																																						uc002snd.3																			0		p.R42Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(124-126)Cgg>Tgg		Homo sapiens hexokinase 2 (HK2), mRNA.		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	188.0	194.0	192.0		124	4.2	1.0	2		192	0,8600		0,0,4300	no	missense	HK2	NM_000189.4	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	42/918	75081480	3,13003	2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75081480C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.124C>T	2.37:g.75081480C>T	ENSP00000290573:p.Arg42Trp						p.R42W	NM_000189	NP_000180	P52789	HXK2_HUMAN			1	2050	+			42			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.124C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332190	0.81801	6.81E-4	0.0	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98455	-4.94;-4.94	5.13	4.23	0.50019	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99257	1.0889	10	0.87932	D	0	-22.0679	12.6536	0.56776	0.1662:0.8338:0.0:0.0	.	42	P52789	HXK2_HUMAN	W	42;42;14	ENSP00000290573:R42W;ENSP00000387140:R14W	ENSP00000290573:R42W	R	+	1	2	HK2	74934988	0.966000	0.33281	1.000000	0.80357	0.951000	0.60555	2.272000	0.43373	1.347000	0.45714	0.561000	0.74099	CGG		0.527	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
UGGT1	56886	broad.mit.edu	37	2	128944331	128944331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:128944331G>A	ENST00000259253.6	+	39	4481	c.4434G>A	c.(4432-4434)tgG>tgA	p.W1478*	UGGT1_ENST00000375990.3_Nonsense_Mutation_p.W1454*	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1478	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTGAAACGTGGTGTGATGACG	0.413																																						uc002tps.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4432-4434)tgG>tgA		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.							244.0	199.0	215.0					2																	128944331		2203	4300	6503	SO:0001587	stop_gained	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128944331G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4434G>A	2.37:g.128944331G>A	ENSP00000259253:p.Trp1478*					UGGT1_uc002tpr.3_Nonsense_Mutation_p.W1454*	p.W1478*	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			38	4612	+			1478			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Nonsense_Mutation	SNP	ENST00000259253.6	37	c.4434G>A	CCDS2154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.716658|5.716658	0.96830|0.96830	.|.	.|.	ENSG00000136731|ENSG00000136731	ENST00000418197|ENST00000375990;ENST00000259253	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.80581|.	0.4650|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77159|.	-0.2690|.	3|.	.|.	.|.	.|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	54|1454;1478	.|.	.|.	V|W	+|+	1|3	0|0	UGGT1|UGGT1	128660801|128660801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.341000|9.341000	0.97041|0.97041	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GTG|TGG		0.413	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
TTN	7273	broad.mit.edu	37	2	179571370	179571370	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:179571370C>T	ENST00000591111.1	-	100	28504	c.28280G>A	c.(28279-28281)cGt>cAt	p.R9427H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R9744H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R8500H|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13523	Ig-like 77.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGAAAACACGACCTCCTTG	0.443																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25498-25500)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							161.0	158.0	159.0					2																	179571370		1895	4124	6019	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571370C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28280G>A	2.37:g.179571370C>T	ENSP00000465570:p.Arg9427His					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5161H	p.R8500H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		98	25724	-			9427			Ig-like 67.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25499G>A		.	.	.	.	.	.	.	.	.	.	C	16.05	3.013222	0.54468	.	.	ENSG00000155657	ENST00000342992	T	0.52057	0.68	6.1	6.1	0.99115	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67748	0.2926	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66650	-0.5870	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	9427	Q8WZ42	TITIN_HUMAN	H	8500	ENSP00000343764:R8500H	ENSP00000343764:R8500H	R	-	2	0	TTN	179279615	1.000000	0.71417	0.964000	0.40570	0.368000	0.29767	7.818000	0.86416	2.902000	0.99343	0.650000	0.86243	CGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
AQP12B	653437	broad.mit.edu	37	2	241621969	241621969	+	Missense_Mutation	SNP	C	C	T	rs545420469		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:241621969C>T	ENST00000407834.3	-	1	348	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	84						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGCAGGGACACGGTGGGGTTG	0.687													N|||	1	0.000199681	0.0	0.0014	5008	,	,		19056	0.0		0.0	False		,,,				2504	0.0					uc010fzj.3																			0		p.V96V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13						c.(286-288)Gtg>Atg		Homo sapiens aquaporin 12B (AQP12B), mRNA.							51.0	51.0	51.0					2																	241621969		2203	4300	6503	SO:0001583	missense	653437					integral to membrane	transporter activity	g.chr2:241621969C>T	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.286G>A	2.37:g.241621969C>T	ENSP00000384894:p.Val96Met					AQP12B_uc002vzt.3_Intron	p.V96M	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	0	349	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	84					A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	c.286G>A	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	13.93	2.384823	0.42308	.	.	ENSG00000185176	ENST00000407834	T	0.17213	2.29	2.63	2.63	0.31362	.	0.224078	0.37393	N	0.002113	T	0.38026	0.1025	M	0.77103	2.36	0.29746	N	0.836738	D	0.89917	1.0	D	0.68943	0.961	T	0.22103	-1.0226	9	.	.	.	-0.1684	11.4255	0.50007	0.0:1.0:0.0:0.0	.	96	A6NM10-2	.	M	96	ENSP00000384894:V96M	.	V	-	1	0	AQP12B	241270642	0.816000	0.29132	0.484000	0.27391	0.839000	0.47603	1.390000	0.34464	1.782000	0.52362	0.479000	0.44913	GTG		0.687	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1		
SULF2	55959	broad.mit.edu	37	20	46386007	46386007	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr20:46386007C>T	ENST00000359930.4	-	2	952	c.101G>A	c.(100-102)aGg>aAg	p.R34K	SULF2_ENST00000361612.4_Missense_Mutation_p.R34K|SULF2_ENST00000484875.1_Missense_Mutation_p.R34K|SULF2_ENST00000467815.1_Missense_Mutation_p.R34K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	34					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTCTGAAACCTGCCTTTCAG	0.647																																						uc002xto.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(100-102)aGg>aAg		Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.							61.0	44.0	50.0					20																	46386007		2202	4295	6497	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46386007C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.101G>A	20.37:g.46386007C>T	ENSP00000353007:p.Arg34Lys					SULF2_uc002xtr.3_Missense_Mutation_p.R34K|SULF2_uc002xtq.3_Missense_Mutation_p.R34K|SULF2_uc010ghv.1_Missense_Mutation_p.R34K	p.R34K	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			1	431	-			34					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.101G>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581223	0.65992	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-4.42	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.79011	2.435	0.48511	D	0.999667	B;P;B	0.34522	0.319;0.455;0.326	B;B;B	0.40285	0.204;0.325;0.174	D	0.99940	1.1397	10	0.62326	D	0.03	-19.6969	17.0687	0.86567	0.0:1.0:0.0:0.0	.	34;34;34	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	K	34	ENSP00000353007:R34K;ENSP00000418290:R34K;ENSP00000354662:R34K;ENSP00000418442:R34K;ENSP00000410026:R34K	ENSP00000353007:R34K	R	-	2	0	SULF2	45819414	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.056000	0.76662	2.106000	0.64143	0.561000	0.74099	AGG		0.647	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
SLCO4A1	28231	broad.mit.edu	37	20	61291766	61291766	+	Missense_Mutation	SNP	C	C	T	rs373121417		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr20:61291766C>T	ENST00000370507.1	+	3	986	c.890C>T	c.(889-891)aCg>aTg	p.T297M	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.T297M|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	297					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T297M(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCCACAGGACGGAGCTGACC	0.687																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			1	Substitution - Missense(1)	p.T297M(2)	lung(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(889-891)aCg>aTg		Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.		C	MET/THR	0,4406		0,0,2203	34.0	35.0	34.0		890	1.5	0.7	20		34	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4A1	NM_016354.3	81	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	297/723	61291766	1,13001	2203	4298	6501	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61291766C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.890C>T	20.37:g.61291766C>T	ENSP00000359538:p.Thr297Met						p.T297M	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		3	1095	+	Breast(26;3.65e-08)		297					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.890C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716148	0.30413	0.0	1.16E-4	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.39592	1.07;1.07	4.64	1.49	0.22878	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.89785	3.06	0.46901	D	0.999241	P	0.38020	0.615	B	0.40199	0.322	T	0.37641	-0.9697	10	0.46703	T	0.11	.	5.6709	0.17721	0.276:0.5726:0.0:0.1514	.	297	Q96BD0	SO4A1_HUMAN	M	297	ENSP00000217159:T297M;ENSP00000359538:T297M	ENSP00000217159:T297M	T	+	2	0	SLCO4A1	60762211	0.865000	0.29922	0.683000	0.30040	0.184000	0.23303	1.648000	0.37271	0.042000	0.15717	0.561000	0.74099	ACG		0.687	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354	
KRTAP10-5	386680	broad.mit.edu	37	21	46000294	46000294	+	Silent	SNP	C	C	T	rs201287112		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr21:46000294C>T	ENST00000400372.1	-	1	187	c.162G>A	c.(160-162)gcG>gcA	p.A54A	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	54	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCTCACAGGCCGCCTGGCAGC	0.716													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17574	0.0		0.0	False		,,,				2504	0.0					uc002zfl.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(160-162)gcG>gcA		Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.							30.0	36.0	34.0					21																	46000294		2190	4281	6471	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:46000294C>T	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.162G>A	21.37:g.46000294C>T						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A54A	NM_198694	NP_941967	P60370	KR105_HUMAN			0	188	-			54			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.162G>A	CCDS42958.1																																																																																				0.716	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1		
C1QTNF6	114904	broad.mit.edu	37	22	37581311	37581311	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr22:37581311C>T	ENST00000337843.2	-	2	311	c.236G>A	c.(235-237)cGc>cAc	p.R79H	C1QTNF6_ENST00000255836.6_5'Flank|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.R79H	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	60	Collagen-like.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GGCGTGGGGGCGGCCGGAGGA	0.632																																						uc003aqx.1																			0		p.G78C(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(235-237)cGc>cAc		Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.							38.0	40.0	40.0					22																	37581311		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37581311C>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.236G>A	22.37:g.37581311C>T	ENSP00000338812:p.Arg79His					C1QTNF6_uc003aqw.1_Missense_Mutation_p.R60H|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqz.1_Non-coding_Transcript	p.R79H	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			1	499	-			60			Collagen-like.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.236G>A	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	C	0.358	-0.940883	0.02322	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.36878	1.23;1.23	4.05	0.691	0.18045	.	1.407880	0.04467	N	0.375411	T	0.19525	0.0469	N	0.14661	0.345	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.08055	0.003;0.001	T	0.16958	-1.0385	10	0.13853	T	0.58	.	4.1956	0.10441	0.5538:0.1738:0.2724:0.0	.	79;60	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	H	79	ENSP00000380299:R79H;ENSP00000338812:R79H	ENSP00000338812:R79H	R	-	2	0	C1QTNF6	35911257	0.011000	0.17503	0.647000	0.29507	0.004000	0.04260	1.289000	0.33307	0.041000	0.15688	-2.104000	0.00359	CGC		0.632	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486	
DCLK3	85443	broad.mit.edu	37	3	36779774	36779774	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:36779774C>T	ENST00000416516.2	-	2	867	c.377G>A	c.(376-378)gGg>gAg	p.G126E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	126						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G126E(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AATCTCCACCCCAAGATGCTT	0.567																																						uc003cgi.2																			1	Substitution - Missense(1)	p.G126E(2)	lung(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(376-378)gGg>gAg		Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.							148.0	148.0	148.0					3																	36779774		1883	4105	5988	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779774C>T	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.377G>A	3.37:g.36779774C>T	ENSP00000394484:p.Gly126Glu						p.G126E	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			1	868	-			126						Missense_Mutation	SNP	ENST00000416516.2	37	c.377G>A	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	3.399	-0.122724	0.06795	.	.	ENSG00000163673	ENST00000416516	T	0.64803	-0.12	4.7	2.76	0.32466	.	0.000000	0.33346	N	0.005003	T	0.42291	0.1196	L	0.32530	0.975	0.09310	N	1	B	0.27882	0.192	B	0.21151	0.033	T	0.13575	-1.0504	10	0.19147	T	0.46	.	6.2865	0.21037	0.0:0.5286:0.346:0.1254	.	126	Q9C098	DCLK3_HUMAN	E	126	ENSP00000394484:G126E	ENSP00000394484:G126E	G	-	2	0	DCLK3	36754778	0.120000	0.22244	0.936000	0.37596	0.680000	0.39746	0.990000	0.29642	1.104000	0.41587	0.655000	0.94253	GGG		0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	
SLC6A20	54716	broad.mit.edu	37	3	45801400	45801400	+	Silent	SNP	G	G	A	rs143985135	byFrequency	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:45801400G>A	ENST00000358525.4	-	10	1693	c.1578C>T	c.(1576-1578)agC>agT	p.S526S	SLC6A20_ENST00000456124.2_Silent_p.S526S|SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000353278.4_Silent_p.S489S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	526					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S526S(1)|p.S489S(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGATGTAGTCGCTCAGGTAGA	0.592													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17976	0.0		0.0	False		,,,				2504	0.0					uc011bai.2																			2	Substitution - coding silent(2)	p.S526S(1)|p.S489S(1)	large_intestine(2)	breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1576-1578)agC>agT		Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	121.0	119.0	119.0		1578,1467	-12.0	0.7	3	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC6A20	NM_020208.3,NM_022405.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	526/593,489/556	45801400	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45801400G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1578C>T	3.37:g.45801400G>A						SLC6A20_uc003cow.3_Silent_p.S176S|SLC6A20_uc011baj.2_Silent_p.S489S	p.S526S	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	9	1702	-			526					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1578C>T	CCDS43077.1																																																																																				0.592	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208	
NIT2	56954	broad.mit.edu	37	3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T	rs183950946	byFrequency	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:100057936C>T	ENST00000394140.4	+	2	104	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	5	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													C|||	2	0.000399361	0.0	0.0029	5008	,	,		24193	0.0		0.0	False		,,,				2504	0.0					uc003dtv.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(13-15)Cgc>Tgc		Homo sapiens nitrilase family, member 2 (NIT2), mRNA.							143.0	142.0	142.0					3																	100057936		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100057936C>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.13C>T	3.37:g.100057936C>T	ENSP00000377696:p.Arg5Cys					NIT2_uc011bha.1_Missense_Mutation_p.R5C	p.R5C	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN			1	87	+			5			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.13C>T	CCDS33806.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	21.8|21.8	4.199522|4.199522	0.79015|0.79015	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000497785|ENST00000394140	.|D	.|0.88354	.|-2.37	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95484|0.95484	0.8533|0.8533	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.958;0.991	D|D	0.96030|0.96030	0.9016|0.9016	5|10	.|0.87932	.|D	.|0	-5.125|-5.125	19.112|19.112	0.93319|0.93319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5;5	.|B7Z3F9;Q9NQR4	.|.;NIT2_HUMAN	L|C	98|5	.|ENSP00000377696:R5C	.|ENSP00000377696:R5C	P|R	+|+	2|1	0|0	NIT2|NIT2	101540626|101540626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.588000|0.588000	0.36517|0.36517	4.984000|4.984000	0.63838|0.63838	2.594000|2.594000	0.87642|0.87642	0.484000|0.484000	0.47621|0.47621	CCG|CGC		0.473	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	
DLG1	1739	broad.mit.edu	37	3	196921382	196921382	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:196921382C>G	ENST00000419354.1	-	5	683	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	DLG1_ENST00000357674.4_Missense_Mutation_p.E133Q|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000392382.2_Missense_Mutation_p.E133Q|DLG1_ENST00000450955.1_Missense_Mutation_p.E133Q|DLG1_ENST00000448528.2_Missense_Mutation_p.E133Q|DLG1_ENST00000314062.3_Missense_Mutation_p.E133Q|DLG1_ENST00000346964.2_Missense_Mutation_p.E133Q|DLG1_ENST00000422288.1_Missense_Mutation_p.E133Q			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	133					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAACCAATTCTGGACCTATC	0.353																																						uc010ial.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(397-399)Gaa>Caa		Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.							144.0	140.0	141.0					3																	196921382		2203	4299	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196921382C>G	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.397G>C	3.37:g.196921382C>G	ENSP00000407531:p.Glu133Gln					DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.E133Q|DLG1_uc003fxn.4_Missense_Mutation_p.E133Q|DLG1_uc011bue.2_Missense_Mutation_p.E133Q|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.E133Q	p.E133Q	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	4	656	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	133					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.397G>C	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282682	0.59867	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.67	5.67	0.87782	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.72118	2.19	0.58432	D	0.999999	D;D;B;D	0.89917	1.0;1.0;0.277;1.0	D;D;B;D	0.91635	0.997;0.999;0.114;0.999	T	0.68021	-0.5519	10	0.31617	T	0.26	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	133;133;133;133	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	Q	133;133;133;133;133;133;133;133;133;133;37;133;133;133	ENSP00000345731:E133Q;ENSP00000350303:E133Q;ENSP00000321087:E133Q;ENSP00000407531:E133Q;ENSP00000413238:E133Q;ENSP00000391732:E133Q;ENSP00000376187:E133Q;ENSP00000411278:E133Q;ENSP00000412579:E37Q;ENSP00000396474:E133Q;ENSP00000376185:E133Q;ENSP00000414189:E133Q	ENSP00000321087:E133Q	E	-	1	0	DLG1	198405779	1.000000	0.71417	0.131000	0.22000	0.008000	0.06430	7.469000	0.80959	2.680000	0.91292	0.655000	0.94253	GAA		0.353	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087	
SLIT2	9353	broad.mit.edu	37	4	20543202	20543202	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:20543202C>T	ENST00000504154.1	+	20	2355	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	SLIT2_ENST00000503837.1_Silent_p.P697P|SLIT2_ENST00000273739.5_Silent_p.P705P|SLIT2_ENST00000503823.1_Silent_p.P693P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	701	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATACCCATCCAGGATG	0.443																																						uc003gpr.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2101-2103)ccC>ccT		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							107.0	99.0	102.0					4																	20543202		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20543202C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2103C>T	4.37:g.20543202C>T						SLIT2_uc003gps.1_Silent_p.P693P	p.P701P	NM_004787	NP_004778	O94813	SLIT2_HUMAN			19	2307	+			701			LRRCT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.2103C>T	CCDS3426.1																																																																																				0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
N4BP2	55728	broad.mit.edu	37	4	40119548	40119548	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:40119548G>A	ENST00000261435.6	+	8	2140	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	575					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CATTATCAACGTTTTGTTTCA	0.363																																						uc003guy.4																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1723-1725)cGt>cAt		Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.							121.0	112.0	115.0					4																	40119548		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40119548G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1724G>A	4.37:g.40119548G>A	ENSP00000261435:p.Arg575His					N4BP2_uc010ifq.3_Missense_Mutation_p.R495H|N4BP2_uc010ifr.3_Missense_Mutation_p.R495H	p.R575H	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			7	2062	+			575					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1724G>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993298	0.74703	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.47869	0.83	5.44	5.44	0.79542	.	0.362503	0.32015	N	0.006712	T	0.51041	0.1651	N	0.16790	0.44	0.52501	D	0.999958	D;D	0.76494	0.998;0.999	P;D	0.70227	0.9;0.968	T	0.51988	-0.8635	10	0.44086	T	0.13	-12.2842	13.5697	0.61838	0.0767:0.0:0.9233:0.0	.	575;575	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	H	575;495	ENSP00000261435:R575H	ENSP00000261435:R575H	R	+	2	0	N4BP2	39795943	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.162000	0.50755	2.558000	0.86282	0.655000	0.94253	CGT		0.363	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
PCDH10	57575	broad.mit.edu	37	4	134084209	134084209	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:134084209G>T	ENST00000264360.5	+	4	3701	c.2875G>T	c.(2875-2877)Gtc>Ttc	p.V959F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	959					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCTTCTTTTGTCCCTTCTGA	0.488																																						uc003iha.3																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2875-2877)Gtc>Ttc		Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.							176.0	148.0	157.0					4																	134084209		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084209G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2875G>T	4.37:g.134084209G>T	ENSP00000264360:p.Val959Phe						p.V959F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	3	3701	+			959					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2875G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017467	0.54576	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55588	0.51	5.24	4.4	0.53042	.	0.000000	0.35772	N	0.002983	T	0.46073	0.1374	L	0.27053	0.805	0.50632	D	0.999887	D	0.53619	0.961	P	0.47206	0.541	T	0.48980	-0.8986	10	0.54805	T	0.06	.	13.4837	0.61353	0.076:0.0:0.924:0.0	.	959	Q9P2E7	PCD10_HUMAN	F	959	ENSP00000264360:V959F	ENSP00000264360:V959F	V	+	1	0	PCDH10	134303659	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.301000	0.59086	1.424000	0.47217	0.650000	0.86243	GTC		0.488	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
DCLK2	166614	broad.mit.edu	37	4	151170830	151170830	+	Silent	SNP	C	C	G			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:151170830C>G	ENST00000296550.7	+	15	2821	c.2067C>G	c.(2065-2067)gtC>gtG	p.V689V	DCLK2_ENST00000506325.1_Silent_p.V688V|DCLK2_ENST00000302176.8_Silent_p.V706V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	689					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGGTCTCCGTCATCATGGTGA	0.532																																					GBM(195;186 2215 13375 16801 37459)	uc003ilo.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(2116-2118)gtC>gtG		Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.							101.0	94.0	96.0					4																	151170830		2203	4300	6503	SO:0001819	synonymous_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151170830C>G	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.2067C>G	4.37:g.151170830C>G						DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.V689V|DCLK2_uc003iln.4_Silent_p.V688V	p.V706V	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN			15	2872	+	all_hematologic(180;0.151)		689					C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	c.2118C>G	CCDS34076.1																																																																																				0.532	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	
AP3S1	1176	broad.mit.edu	37	5	115177778	115177778	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr5:115177778G>A	ENST00000316788.7	+	1	601	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	ATG12_ENST00000509910.1_5'Flank|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000274459.4_5'Flank|ATG12_ENST00000500945.2_5'Flank	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	15					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		GGGAAGCCGCGGCTCTCCAAG	0.692																																						uc003krl.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(43-45)cGg>cAg		Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.							13.0	14.0	14.0					5																	115177778		2202	4297	6499	SO:0001583	missense	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115177778G>A	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.44G>A	5.37:g.115177778G>A	ENSP00000325369:p.Arg15Gln					AP3S1_uc003krk.3_5'UTR|ATG12_uc021ycr.1_5'Flank|ATG12_uc021ycs.1_5'Flank|ATG12_uc003krh.3_5'Flank|ATG12_uc003kri.3_5'Flank	p.R15Q	NM_001284	NP_001275	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	0	160	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	15					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	c.44G>A	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597076	0.87055	.	.	ENSG00000177879	ENST00000316788	T	0.61627	0.09	5.06	4.19	0.49359	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	H	0.96365	3.81	0.41053	D	0.985318	P;P	0.47191	0.891;0.891	P;P	0.45971	0.499;0.499	T	0.82192	-0.0579	10	0.66056	D	0.02	-0.9466	12.9054	0.58149	0.0814:0.0:0.9186:0.0	.	15;15	B2R4I8;Q92572	.;AP3S1_HUMAN	Q	15	ENSP00000325369:R15Q	ENSP00000325369:R15Q	R	+	2	0	AP3S1	115205677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.311000	0.65786	1.258000	0.44101	0.650000	0.86243	CGG		0.692	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2		
DOCK2	1794	broad.mit.edu	37	5	169506008	169506008	+	Missense_Mutation	SNP	C	C	T	rs201322810		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr5:169506008C>T	ENST00000256935.8	+	49	5104	c.5024C>T	c.(5023-5025)aCg>aTg	p.T1675M	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1167M|DOCK2_ENST00000540750.1_Missense_Mutation_p.T736M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1675					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCCAAGACGCCGAGAGTG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0					uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5023-5025)aCg>aTg		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103.0	110.0	108.0		5024	4.1	0.0	5		108	0,8600		0,0,4300	yes	missense	DOCK2	NM_004946.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1675/1831	169506008	1,13005	2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169506008C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5024C>T	5.37:g.169506008C>T	ENSP00000256935:p.Thr1675Met					DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.T1167M|DOCK2_uc003mah.3_Missense_Mutation_p.T231M	p.T1675M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		48	5104	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1675					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5024C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213024	0.39102	2.27E-4	0.0	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08546	3.73;3.37;3.08	4.92	4.05	0.47172	.	0.536026	0.18828	N	0.130075	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	0.999998	P;P;B	0.50156	0.661;0.932;0.349	B;B;B	0.38712	0.115;0.28;0.072	T	0.24835	-1.0149	10	0.51188	T	0.08	.	13.8967	0.63775	0.1538:0.8462:0.0:0.0	.	1167;231;1675	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	M	1675;1167;736	ENSP00000256935:T1675M;ENSP00000429283:T1167M;ENSP00000438827:T736M	ENSP00000256935:T1675M	T	+	2	0	DOCK2	169438586	0.069000	0.21087	0.008000	0.14137	0.128000	0.20619	1.306000	0.33505	1.195000	0.43115	0.650000	0.86243	ACG		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						uc003pbh.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_uc003pbi.2_Splice_Site_p.K221_splice|ICK_uc003pbj.3_Splice_Site_p.K221_splice	p.K221_splice	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			8	1153	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Frame_Shift_Del	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del
WDR27	253769	broad.mit.edu	37	6	170036474	170036474	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr6:170036474T>C	ENST00000448612.1	-	19	2105	c.1996A>G	c.(1996-1998)Att>Gtt	p.I666V	WDR27_ENST00000333572.6_Missense_Mutation_p.I666V|WDR27_ENST00000423258.1_Missense_Mutation_p.I539V|WDR27_ENST00000546525.1_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	636						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TACCTCTTAATCTCATCTTTG	0.378																																						uc003qwx.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(1996-1998)Att>Gtt		Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.							60.0	64.0	62.0					6																	170036474		1849	4092	5941	SO:0001583	missense	253769							g.chr6:170036474T>C	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1996A>G	6.37:g.170036474T>C	ENSP00000416289:p.Ile666Val					WDR27_uc003qwv.2_Intron|WDR27_uc021zio.1_Missense_Mutation_p.I666V|WDR27_uc003qwy.3_Missense_Mutation_p.I539V	p.I666V	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	18	2516	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	636					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1996A>G	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	T	4.460	0.085244	0.08583	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.23950	2.0;2.22;1.88	4.98	-5.32	0.02722	.	0.459682	0.19553	N	0.111530	T	0.02533	0.0077	N	0.20807	0.61	0.09310	N	0.999998	B;B;B	0.13594	0.002;0.008;0.007	B;B;B	0.12156	0.002;0.007;0.007	T	0.40346	-0.9568	10	0.11182	T	0.66	-0.0624	3.6832	0.08319	0.2953:0.0706:0.4435:0.1905	.	666;539;666	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	V	666;666;539	ENSP00000416289:I666V;ENSP00000330265:I666V;ENSP00000397869:I539V	ENSP00000330265:I666V	I	-	1	0	WDR27	169778399	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.367000	0.02583	-1.299000	0.02344	0.467000	0.42956	ATT		0.378	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	
FAM126A	84668	broad.mit.edu	37	7	23023600	23023600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr7:23023600G>T	ENST00000432176.2	-	3	348	c.116C>A	c.(115-117)tCa>tAa	p.S39*	FAM126A_ENST00000409923.1_Nonsense_Mutation_p.S39*|FAM126A_ENST00000409763.1_Nonsense_Mutation_p.S39*	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	39					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATAGAGAGATGAAACTAAAGA	0.269																																						uc003svm.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(115-117)tCa>tAa		Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.							76.0	82.0	80.0					7																	23023600		2203	4296	6499	SO:0001587	stop_gained	84668					cytoplasm|membrane	signal transducer activity	g.chr7:23023600G>T	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.116C>A	7.37:g.23023600G>T	ENSP00000403396:p.Ser39*					FAM126A_uc003svn.4_5'UTR|FAM126A_uc011jyr.1_Intron	p.S39*	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			2	371	-			39					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Nonsense_Mutation	SNP	ENST00000432176.2	37	c.116C>A	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.116769|5.116769	0.94385|0.94385	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000440481|ENST00000432176;ENST00000409923;ENST00000409763	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.173476	.|0.53938	.|D	.|0.000060	T|.	0.54095|.	0.1837|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41360|.	-0.9513|.	4|.	.|0.07175	.|T	.|0.84	0.6298|0.6298	20.2885|20.2885	0.98538|0.98538	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	91|39	.|.	.|ENSP00000386624:S39X	H|S	-|-	1|2	0|0	FAM126A|FAM126A	22990125|22990125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.540000|7.540000	0.82074|0.82074	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.269	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581	
MUC17	140453	broad.mit.edu	37	7	100683180	100683180	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr7:100683180G>A	ENST00000306151.4	+	3	8547	c.8483G>A	c.(8482-8484)gGc>gAc	p.G2828D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2828	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTGGCACCCTTTCA	0.498																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8482-8484)gGc>gAc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							242.0	250.0	247.0					7																	100683180		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683180G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8483G>A	7.37:g.100683180G>A	ENSP00000302716:p.Gly2828Asp					MUC17_uc010lho.1_Non-coding_Transcript	p.G2828D	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	8536	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2828			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8483G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203649	0.09704	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	0.911	-0.0885	0.13673	.	.	.	.	.	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.42515	-0.9447	9	0.27082	T	0.32	.	3.9399	0.09323	0.4823:0.0:0.5177:0.0	.	2828	Q685J3	MUC17_HUMAN	D	2828	ENSP00000302716:G2828D	ENSP00000302716:G2828D	G	+	2	0	MUC17	100469900	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.278000	0.08490	-0.037000	0.13646	0.134000	0.15878	GGC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
ARFGEF1	10565	broad.mit.edu	37	8	68140317	68140317	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr8:68140317T>C	ENST00000262215.3	-	25	3861	c.3472A>G	c.(3472-3474)Acg>Gcg	p.T1158A	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T612A|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1158					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGGTGTGTCGTGGAAAGTAAT	0.318																																						uc003xxo.2																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3472-3474)Acg>Gcg		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.							96.0	94.0	95.0					8																	68140317		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68140317T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3472A>G	8.37:g.68140317T>C	ENSP00000262215:p.Thr1158Ala					ARFGEF1_uc003xxl.1_Missense_Mutation_p.T612A|ARFGEF1_uc003xxn.2_Missense_Mutation_p.T141A	p.T1158A	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		24	3862	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1158					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3472A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.713377	0.30413	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000517631	T;T	0.51574	0.7;0.7	5.06	5.06	0.68205	Armadillo-type fold (1);	0.171940	0.52532	D	0.000072	T	0.18257	0.0438	N	0.01729	-0.75	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.09314	-1.0680	10	0.29301	T	0.29	.	4.2511	0.10695	0.0:0.1276:0.2022:0.6702	.	1158;636;612	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	A	612;1158;7	ENSP00000428429:T612A;ENSP00000262215:T1158A	ENSP00000262215:T1158A	T	-	1	0	ARFGEF1	68302871	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.485000	0.53208	1.892000	0.54788	0.528000	0.53228	ACG		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
SLC39A4	55630	broad.mit.edu	37	8	145642115	145642115	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr8:145642115G>A	ENST00000301305.3	-	1	164	c.59C>T	c.(58-60)gCg>gTg	p.A20V	SLC39A4_ENST00000276833.5_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	20					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGACGCCGTCGCCGTCACCAC	0.662																																						uc003zcq.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(58-60)gCg>gTg		Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.							46.0	44.0	45.0					8																	145642115		2191	4298	6489	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145642115G>A	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.59C>T	8.37:g.145642115G>A	ENSP00000301305:p.Ala20Val					SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_5'Flank	p.A20V	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		0	159	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		20					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.59C>T	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	A	8.264	0.811862	0.16537	.	.	ENSG00000147804	ENST00000301305;ENST00000526658	T;T	0.58210	0.35;0.38	4.76	-9.51	0.00581	.	2.351530	0.02272	N	0.068512	T	0.30854	0.0778	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.36615	T	0.2	0.683	4.0987	0.10004	0.1093:0.2972:0.4492:0.1443	.	20	Q6P5W5	S39A4_HUMAN	V	20	ENSP00000301305:A20V;ENSP00000434512:A20V	ENSP00000301305:A20V	A	-	2	0	SLC39A4	145612923	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-5.531000	0.00115	-4.419000	0.00050	-3.386000	0.00040	GCG		0.662	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1		
Unknown	0	broad.mit.edu	37	9	17147	17147	+	IGR	SNP	T	T	C	rs200541029		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:17147T>C								None (None upstream) : MIR1302-2 (10509 downstream)																							GTCTGGCACATAGAAGTAGTT	0.587																																						uc010mgm.1																			0											c.(700-702)tAt>tGt		Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.							27.0	38.0	35.0					9																	17147		647	1817	2464	SO:0001628	intergenic_variant	375690				Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	early endosome membrane|recycling endosome membrane|WASH complex	actin binding|alpha-tubulin binding	g.chr9:17147T>C																													9.37:g.17147T>C						WASH1_uc022bcs.1_Non-coding_Transcript|WASH1_uc011llq.1_Non-coding_Transcript|WASH1_uc003zfu.1_Missense_Mutation_p.Y247C	p.Y234C	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	6	844	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	234						Missense_Mutation	SNP		37	c.701A>G																																																																																				0	0.587								
PAPPA	5069	broad.mit.edu	37	9	118997909	118997909	+	Missense_Mutation	SNP	G	G	A	rs199874720		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:118997909G>A	ENST00000328252.3	+	7	3094	c.2725G>A	c.(2725-2727)Gta>Ata	p.V909I	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	909					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGGAAATTCGTAGACATGTA	0.517																																						uc004bjn.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2725-2727)Gta>Ata		Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.							101.0	101.0	101.0					9																	118997909		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118997909G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2725G>A	9.37:g.118997909G>A	ENSP00000330658:p.Val909Ile					PAPPA_uc011lxp.1_Missense_Mutation_p.V604I|PAPPA_uc011lxq.2_Intron	p.V909I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			6	3106	+			909					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.2725G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	1.737	-0.492791	0.04322	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.41400	1.0	6.03	-5.66	0.02451	.	0.966212	0.08696	N	0.907154	T	0.17280	0.0415	N	0.03324	-0.35	0.19775	N	0.99996	B;B	0.14012	0.009;0.005	B;B	0.11329	0.006;0.002	T	0.32375	-0.9909	10	0.21540	T	0.41	0.6245	11.5935	0.50959	0.4382:0.0869:0.4749:0.0	.	353;909	E7EMD3;Q13219	.;PAPP1_HUMAN	I	909;353	ENSP00000330658:V909I	ENSP00000330658:V909I	V	+	1	0	PAPPA	118037730	0.000000	0.05858	0.037000	0.18230	0.031000	0.12232	-0.183000	0.09712	-0.765000	0.04645	-0.907000	0.02831	GTA		0.517	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
LAMC3	10319	broad.mit.edu	37	9	133907535	133907535	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:133907535C>T	ENST00000361069.4	+	3	915	c.782C>T	c.(781-783)gCc>gTc	p.A261V	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	261	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TACTATTATGCCGTGTCCGAC	0.612																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(781-783)gCc>gTc		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							132.0	126.0	128.0					9																	133907535		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133907535C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.782C>T	9.37:g.133907535C>T	ENSP00000354360:p.Ala261Val						p.A261V	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	2	880	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	261			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.782C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747884	0.89663	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.80033	-1.33	5.18	5.18	0.71444	Laminin, N-terminal (3);	0.055269	0.64402	D	0.000001	D	0.92935	0.7752	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94957	0.8105	10	0.87932	D	0	.	17.6836	0.88250	0.0:1.0:0.0:0.0	.	261	Q9Y6N6	LAMC3_HUMAN	V	261	ENSP00000354360:A261V	ENSP00000325873:A261V	A	+	2	0	LAMC3	132897356	1.000000	0.71417	0.982000	0.44146	0.841000	0.47740	5.984000	0.70548	2.426000	0.82243	0.563000	0.77884	GCC		0.612	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
GABRQ	55879	broad.mit.edu	37	X	151820044	151820044	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chrX:151820044C>T	ENST00000370306.2	+	8	977	c.957C>T	c.(955-957)ctC>ctT	p.L319L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	319					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGATAAGCTCCCCAACATTT	0.448																																						uc004ffp.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(955-957)ctC>ctT		Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.							347.0	277.0	301.0					X																	151820044		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151820044C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.957C>T	X.37:g.151820044C>T							p.L319L	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			7	977	+	Acute lymphoblastic leukemia(192;6.56e-05)		319					A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.957C>T	CCDS14707.1																																																																																				0.448	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
PCDH11Y	83259	broad.mit.edu	37	Y	5605715	5605715	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chrY:5605715C>T	ENST00000215473.6	+	6	3755	c.3755C>T	c.(3754-3756)tCt>tTt	p.S1252F				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1252					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCCACAGCTCTTCTCTGCCA	0.552																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3754-3756)tCt>tTt		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605715C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3755C>T	Y.37:g.5605715C>T	ENSP00000215473:p.Ser1252Phe					PCDH11Y_uc022ciy.1_Non-coding_Transcript	p.S1252F	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			4	4489	+			1252					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3755C>T																																																																																					0.552	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973	
