#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
COL4A3	1285	broad.mit.edu	37	2	228118844	228118844	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:228118844A>G	ENST00000396578.3	+	14	944	c.782A>G	c.(781-783)aAg>aGg	p.K261R	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	261	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGGGAAAAGGGAGACAAG	0.433																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(781-783)aAg>aGg		collagen, type IV, alpha 3 (Goodpasture antigen)							102.0	109.0	107.0					2																	228118844		1888	4116	6004	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118844A>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.782A>G	2.37:g.228118844A>G	ENSP00000379823:p.Lys261Arg					AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA	p.K261R	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	14	944	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	261			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.782A>G	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515591	0.64634	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.88509	-2.39	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000023	D	0.90841	0.7123	L	0.39566	1.225	0.34362	D	0.691052	D;D;D;D	0.89917	0.996;0.998;1.0;0.997	D;D;D;D	0.78314	0.955;0.969;0.991;0.95	D	0.92550	0.6049	10	0.36615	T	0.2	.	11.9828	0.53129	1.0:0.0:0.0:0.0	.	261;261;261;261	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	R	261	ENSP00000379823:K261R	ENSP00000323334:K261R	K	+	2	0	COL4A3	227827088	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	4.247000	0.58750	2.088000	0.63022	0.383000	0.25322	AAG		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	165	0	0	0	0.115264	0	3	165				
PHF1	5252	broad.mit.edu	37	6	33382565	33382565	+	Silent	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:33382565T>C	ENST00000374516.3	+	11	1279	c.1008T>C	c.(1006-1008)ccT>ccC	p.P336P	PHF1_ENST00000374512.3_Silent_p.P336P	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	336					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTCGGATGCCTCCCCCTGTGG	0.527											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1006-1008)ccT>ccC		PHD finger protein 1							86.0	83.0	84.0					6																	33382565		2202	4299	6501	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382565T>C	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1008T>C	6.37:g.33382565T>C			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.P336P	p.P336P	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			11	1279	+		Ovarian(999;0.0443)	336					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.1008T>C	CCDS4777.1																																																																																				0.527	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			3	132	0	0	0	0.115264	0	3	132				
SLC5A10	125206	broad.mit.edu	37	17	18916793	18916793	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:18916793C>T	ENST00000395645.3	+	10	1071	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	SLC5A10_ENST00000395647.2_Silent_p.I367I|SLC5A10_ENST00000395642.1_Silent_p.I284I|SLC5A10_ENST00000317977.6_Silent_p.I284I|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Silent_p.I324I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	351					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCTCCAACATCGCCTACCCCA	0.647																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(850-852)atC>atT		solute carrier family 5 (sodium/sugar cotransporter), member 10							56.0	49.0	51.0					17																	18916793		2203	4300	6503	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18916793C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1053C>T	17.37:g.18916793C>T						SLC5A10_ENST00000395647.2_Silent_p.I367I|SLC5A10_ENST00000395643.2_Silent_p.I324I|SLC5A10_ENST00000395645.3_Silent_p.I351I|SLC5A10_ENST00000395642.1_Silent_p.I284I|SLC5A10_ENST00000417251.2_Intron	p.I284I			A0PJK1	SC5AA_HUMAN			9	1423	+			351					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.852C>T	CCDS42275.1																																																																																				0.647	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		20	57	0	0	0	0.575678	0	20	57				
PRKAG1	5571	broad.mit.edu	37	12	49397588	49397588	+	Missense_Mutation	SNP	T	T	C	rs201727373		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:49397588T>C	ENST00000548065.1	-	9	1111	c.655A>G	c.(655-657)Att>Gtt	p.I219V	RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.I168V|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.I187V|PRKAG1_ENST00000395170.3_Missense_Mutation_p.I135V|PRKAG1_ENST00000316299.5_Missense_Mutation_p.I228V|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	219	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	TGTACAAAAATCCCCAGAGCC	0.537																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(655-657)Att>Gtt		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							148.0	149.0	149.0					12																	49397588		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49397588T>C	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.655A>G	12.37:g.49397588T>C	ENSP00000447433:p.Ile219Val					PRKAG1_ENST00000316299.5_Missense_Mutation_p.I228V|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.I168V|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.I135V|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.I187V|RP11-386G11.5_ENST00000552284.1_RNA	p.I219V			P54619	AAKG1_HUMAN			9	1111	-			219			CBS 3.		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.655A>G	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034516	0.35893	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000548950	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-2.87	4.97	4.97	0.65823	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	L	0.39514	1.22	0.58432	D	0.999996	B;B	0.12013	0.005;0.001	B;B	0.18561	0.014;0.022	D	0.85716	0.1322	10	0.30854	T	0.27	-14.3082	13.7721	0.63032	0.0:0.0:0.0:1.0	.	228;219	Q8N7V9;P54619	.;AAKG1_HUMAN	V	135;168;228;219;187;135	ENSP00000378599:I135V;ENSP00000448873:I168V;ENSP00000323867:I228V;ENSP00000447433:I219V;ENSP00000448972:I187V;ENSP00000450112:I135V	ENSP00000323867:I228V	I	-	1	0	PRKAG1	47683855	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.789000	0.85783	2.094000	0.63399	0.482000	0.46254	ATT		0.537	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		103	195	0	0	0	0.870114	0	103	195				
SEMA6C	10500	broad.mit.edu	37	1	151105972	151105972	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:151105972G>C	ENST00000341697.3	-	19	3472	c.1781C>G	c.(1780-1782)cCa>cGa	p.P594R	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	594					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCGAGGCTGGGGGCAGGTC	0.721																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1780-1782)cCa>cGa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							10.0	11.0	11.0					1																	151105972		2131	4164	6295	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105972G>C	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1781C>G	1.37:g.151105972G>C	ENSP00000344148:p.Pro594Arg						p.P594R			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3472	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		594					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1781C>G	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	8.085	0.773288	0.16051	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.4	2.31	0.28768	.	1.669820	0.04155	U	0.321972	T	0.20333	0.0489	N	0.24115	0.695	0.09310	N	1	B;B;B	0.30361	0.277;0.062;0.181	B;B;B	0.32465	0.146;0.085;0.069	T	0.25257	-1.0137	10	0.16420	T	0.52	.	11.2825	0.49203	0.0:0.0:0.6766:0.3234	.	586;626;594	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	R	594;586;626;594	ENSP00000357910:P594R;ENSP00000357908:P586R;ENSP00000357909:P626R;ENSP00000344148:P594R	ENSP00000344148:P594R	P	-	2	0	SEMA6C	149372596	0.882000	0.30256	0.204000	0.23530	0.758000	0.43043	2.209000	0.42806	0.929000	0.37192	0.561000	0.74099	CCA		0.721	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		8	2	0	0	0	0.335167	0	8	2				
ZHX2	22882	broad.mit.edu	37	8	123965269	123965269	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:123965269G>A	ENST00000314393.4	+	3	2354	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	507					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAATCCCTTGCCAAAGACCA	0.567																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1519-1521)Gcc>Acc		zinc fingers and homeoboxes 2							81.0	65.0	70.0					8																	123965269		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965269G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1519G>A	8.37:g.123965269G>A	ENSP00000314709:p.Ala507Thr						p.A507T	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2354	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		507						Missense_Mutation	SNP	ENST00000314393.4	37	c.1519G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148322	0.57151	.	.	ENSG00000178764	ENST00000314393	T	0.17854	2.25	5.7	5.7	0.88788	Homeodomain-like (1);	0.254929	0.38492	N	0.001674	T	0.14657	0.0354	L	0.27053	0.805	0.39220	D	0.963478	P	0.47106	0.89	B	0.43413	0.419	T	0.09684	-1.0663	10	0.15499	T	0.54	-21.94	16.1211	0.81357	0.0:0.1335:0.8665:0.0	.	507	Q9Y6X8	ZHX2_HUMAN	T	507	ENSP00000314709:A507T	ENSP00000314709:A507T	A	+	1	0	ZHX2	124034450	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.770000	0.62309	2.711000	0.92665	0.561000	0.74099	GCC		0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		31	59	0	0	0	0.740014	0	31	59				
SIPA1L3	23094	broad.mit.edu	37	19	38633283	38633283	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:38633283C>A	ENST00000222345.6	+	12	3975	c.3466C>A	c.(3466-3468)Cag>Aag	p.Q1156K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1156					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCTACCGACAGCCTTCTGG	0.577											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3466-3468)Cag>Aag		signal-induced proliferation-associated 1 like 3							208.0	201.0	204.0					19																	38633283		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38633283C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3466C>A	19.37:g.38633283C>A	ENSP00000222345:p.Gln1156Lys		OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879		p.Q1156K	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		12	3975	+			1156					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3466C>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393345	0.42410	.	.	ENSG00000105738	ENST00000222345	T	0.75589	-0.95	4.82	4.82	0.62117	.	0.740820	0.12746	N	0.442635	T	0.64148	0.2572	L	0.29908	0.895	0.39787	D	0.97238	B	0.26318	0.146	B	0.19148	0.024	T	0.58719	-0.7587	10	0.21014	T	0.42	-31.0282	16.8295	0.85940	0.0:1.0:0.0:0.0	.	1156	O60292	SI1L3_HUMAN	K	1156	ENSP00000222345:Q1156K	ENSP00000222345:Q1156K	Q	+	1	0	SIPA1L3	43325123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.118000	0.50414	2.506000	0.84524	0.563000	0.77884	CAG		0.577	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		144	330	1	0	5.48206e-51	0.870114	7.35947e-51	144	330				
SCN9A	6335	broad.mit.edu	37	2	167085470	167085470	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:167085470C>T	ENST00000409435.1	-	21	3936	c.3937G>A	c.(3937-3939)Gca>Aca	p.A1313T	SCN9A_ENST00000375387.4_Missense_Mutation_p.A1314T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A1314T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A1302T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1313					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTATGAGTGCATTCACAACG	0.358																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(3940-3942)Gca>Aca		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						99.0	98.0	98.0					2																	167085470		2077	4250	6327	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085470C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3937G>A	2.37:g.167085470C>T	ENSP00000386330:p.Ala1313Thr					SCN9A_ENST00000409435.1_Missense_Mutation_p.A1313T|SCN9A_ENST00000303354.6_Missense_Mutation_p.A1314T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.A1302T	p.A1314T			Q15858	SCN9A_HUMAN			22	4280	-			1313					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.3940G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177532	0.94846	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000015	D	0.98785	0.9591	M	0.73319	2.225	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.99878	1.1108	10	0.87932	D	0	.	19.4918	0.95052	0.0:1.0:0.0:0.0	.	1302	E7EUN6	.	T	1302;1314;1314;1313	ENSP00000386306:A1302T;ENSP00000364536:A1314T;ENSP00000304748:A1314T;ENSP00000386330:A1313T	ENSP00000304748:A1314T	A	-	1	0	SCN9A	166793716	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.008000	0.70739	2.616000	0.88540	0.557000	0.71058	GCA		0.358	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		45	98	0	0	0	0.864702	0	45	98				
MICAL2	9645	broad.mit.edu	37	11	12248593	12248593	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:12248593G>T	ENST00000256194.4	+	15	2198	c.1910G>T	c.(1909-1911)gGa>gTa	p.G637V	MICAL2_ENST00000537344.1_Missense_Mutation_p.G637V|MICAL2_ENST00000379612.3_Missense_Mutation_p.G637V|MICAL2_ENST00000342902.5_Missense_Mutation_p.G637V|MICAL2_ENST00000527546.1_Missense_Mutation_p.G637V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	637					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAAAACTATGGAGAAAATGCT	0.458																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1909-1911)gGa>gTa		microtubule associated monooxygenase, calponin and LIM domain containing 2							113.0	102.0	106.0					11																	12248593		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12248593G>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1910G>T	11.37:g.12248593G>T	ENSP00000256194:p.Gly637Val					MICAL2_ENST00000537344.1_Missense_Mutation_p.G637V|MICAL2_ENST00000379612.3_Missense_Mutation_p.G637V|MICAL2_ENST00000342902.5_Missense_Mutation_p.G637V|MICAL2_ENST00000527546.1_Missense_Mutation_p.G637V	p.G637V	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	15	2198	+			637					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1910G>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	5.932	0.356035	0.11239	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.61510	0.14;0.1;0.14;0.1;0.23	4.88	1.98	0.26296	.	0.296575	0.32884	N	0.005531	T	0.47154	0.1430	L	0.50333	1.59	0.52501	D	0.999959	B;P;P;B;P;B	0.44946	0.105;0.789;0.846;0.037;0.684;0.002	B;B;B;B;B;B	0.41374	0.027;0.33;0.355;0.017;0.287;0.007	T	0.28459	-1.0043	10	0.33141	T	0.24	.	8.0645	0.30652	0.1465:0.1304:0.7231:0.0	.	170;637;637;637;637;637	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	V	637;170;637;637;637;637	ENSP00000441689:G637V;ENSP00000256194:G637V;ENSP00000433965:G637V;ENSP00000344894:G637V;ENSP00000368932:G637V	ENSP00000256194:G637V	G	+	2	0	MICAL2	12205169	1.000000	0.71417	0.983000	0.44433	0.257000	0.26127	2.662000	0.46766	0.261000	0.21753	-0.175000	0.13238	GGA		0.458	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		27	78	1	0	1.5548e-18	0.693898	1.88112e-18	27	78				
REV3L	5980	broad.mit.edu	37	6	111697637	111697637	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:111697637G>T	ENST00000358835.3	-	14	2375	c.1921C>A	c.(1921-1923)Cat>Aat	p.H641N	REV3L_ENST00000435970.1_Missense_Mutation_p.H563N|REV3L_ENST00000368802.3_Missense_Mutation_p.H641N|REV3L_ENST00000368805.1_Missense_Mutation_p.H641N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	641					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTCTTTATGAGAATTTTCT	0.333								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(1687-1689)Cat>Aat	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							52.0	56.0	54.0					6																	111697637		2198	4297	6495	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697637G>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1921C>A	6.37:g.111697637G>T	ENSP00000351697:p.His641Asn					REV3L_ENST00000358835.3_Missense_Mutation_p.H641N|REV3L_ENST00000368802.3_Missense_Mutation_p.H641N|REV3L_ENST00000368805.1_Missense_Mutation_p.H641N	p.H563N			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	2503	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	641					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.1687C>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	9.757	1.168916	0.21621	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01474	4.94;4.94;4.94;4.85	5.31	5.31	0.75309	Ribonuclease H-like (1);	2.290650	0.01537	N	0.019075	T	0.01029	0.0034	L	0.32530	0.975	0.28832	N	0.897075	P	0.38922	0.651	B	0.30401	0.115	T	0.45687	-0.9244	10	0.62326	D	0.03	-9.7999	15.365	0.74513	0.0:0.1397:0.8603:0.0	.	641	O60673	DPOLZ_HUMAN	N	641;641;641;563	ENSP00000357792:H641N;ENSP00000357795:H641N;ENSP00000351697:H641N;ENSP00000402003:H563N	ENSP00000351697:H641N	H	-	1	0	REV3L	111804330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.078000	0.50096	2.491000	0.84063	0.563000	0.77884	CAT		0.333	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		4	152	1	0	0.150653	0.150653	0.157064	4	152				
ANKRD20A2	441430	broad.mit.edu	37	9	42368569	42368569	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:42368569G>T	ENST00000377601.2	+	1	267	c.155G>T	c.(154-156)tGc>tTc	p.C52F	RP11-216M21.7_ENST00000450520.1_RNA	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2	52										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GTGGAGCGCTGCTTGGCGCGC	0.697																																						ENST00000377601.2																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						c.(154-156)tGc>tTc		ankyrin repeat domain 20 family, member A2							17.0	15.0	16.0					9																	42368569		2190	4253	6443	SO:0001583	missense	441430							g.chr9:42368569G>T		CCDS35028.1	9p12	2013-01-10			ENSG00000183148	ENSG00000183148		"""Ankyrin repeat domain containing"""	31979	protein-coding gene	gene with protein product							Standard	XM_005272519		Approved			Q5SQ80	OTTHUMG00000058641	ENST00000377601.2:c.155G>T	9.37:g.42368569G>T	ENSP00000366826:p.Cys52Phe						p.C52F	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN			1	267	+			52						Missense_Mutation	SNP	ENST00000377601.2	37	c.155G>T	CCDS35028.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364319	0.24684	.	.	ENSG00000183148	ENST00000377601	T	0.63255	-0.03	1.23	-0.0977	0.13631	Ankyrin repeat-containing domain (8);	.	.	.	.	T	0.46927	0.1418	N	0.03000	-0.44	0.09310	N	1	P;P	0.43826	0.818;0.818	P;P	0.62298	0.9;0.639	T	0.41378	-0.9512	9	0.16420	T	0.52	.	3.986	0.09516	0.0:0.0:0.3922:0.6078	.	52;52	Q5CZ79;Q5SQ80	AN20B_HUMAN;A20A2_HUMAN	F	52	ENSP00000366826:C52F	ENSP00000366826:C52F	C	+	2	0	ANKRD20A2	42358565	0.029000	0.19370	0.000000	0.03702	0.033000	0.12548	0.554000	0.23407	-0.022000	0.13986	0.121000	0.15741	TGC		0.697	ANKRD20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129794.1	NM_001012421		23	161	1	0	2.46105e-21	0.750413	3.01479e-21	23	161				
DDX21	9188	broad.mit.edu	37	10	70742529	70742529	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:70742529A>T	ENST00000354185.4	+	15	2411	c.2313A>T	c.(2311-2313)aaA>aaT	p.K771N		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	771					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAAAACAAAGGCCAGAAGC	0.428																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2311-2313)aaA>aaT		DEAD (Asp-Glu-Ala-Asp) box helicase 21							106.0	105.0	106.0					10																	70742529		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70742529A>T	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.2313A>T	10.37:g.70742529A>T	ENSP00000346120:p.Lys771Asn						p.K771N	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			15	2411	+			771					B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.2313A>T	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898971	0.52227	.	.	ENSG00000165732	ENST00000354185	T	0.16897	2.31	5.8	5.8	0.92144	.	2.643230	0.01047	N	0.004407	T	0.11750	0.0286	N	0.08118	0	0.32971	D	0.52239	B	0.28128	0.201	B	0.16722	0.016	T	0.13019	-1.0525	10	0.48119	T	0.1	-39.7758	8.663	0.34103	0.9155:0.0:0.0845:0.0	.	771	Q9NR30	DDX21_HUMAN	N	771	ENSP00000346120:K771N	ENSP00000346120:K771N	K	+	3	2	DDX21	70412535	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	1.630000	0.37081	2.219000	0.72066	0.533000	0.62120	AAA		0.428	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		47	105	0	0	0	0.870114	0	47	105				
PRDM15	63977	broad.mit.edu	37	21	43281766	43281766	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:43281766A>G	ENST00000269844.3	-	7	907	c.797T>C	c.(796-798)gTg>gCg	p.V266A	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000447207.2_5'Flank|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTGATTCCACACGCCCTCCAC	0.532																																						ENST00000269844.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(796-798)gTg>gCg		PR domain containing 15							118.0	95.0	103.0					21																	43281766		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43281766A>G	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.797T>C	21.37:g.43281766A>G	ENSP00000269844:p.Val266Ala					PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron	p.V266A	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN			7	907	-			266					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.797T>C	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	A	8.577	0.881402	0.17467	.	.	ENSG00000141956	ENST00000269844	T	0.10382	2.88	2.42	-0.328	0.12690	.	.	.	.	.	T	0.04724	0.0128	N	0.08118	0	0.09310	N	0.999991	B	0.09022	0.002	B	0.09377	0.004	T	0.38222	-0.9671	9	0.72032	D	0.01	.	2.9021	0.05709	0.4831:0.2619:0.0:0.255	.	266	P57071	PRD15_HUMAN	A	266	ENSP00000269844:V266A	ENSP00000269844:V266A	V	-	2	0	PRDM15	42154835	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.918000	0.04021	-0.060000	0.13132	0.459000	0.35465	GTG		0.532	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		51	89	0	0	0	0.870114	0	51	89				
CEACAM1	634	broad.mit.edu	37	19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						318.0	269.0	285.0					19																	43031337		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031337C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.280G>A	19.37:g.43031337C>T	ENSP00000161559:p.Ala94Thr					CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T	p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	414	-		Prostate(69;0.00682)	94			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.280G>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399601	0.62177	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.41	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75324	0.3834	M	0.83953	2.67	0.09310	N	1	D;D;B;P;P;P;P;P;D;P	0.59767	0.972;0.986;0.399;0.648;0.777;0.604;0.686;0.862;0.959;0.936	P;P;B;B;P;B;P;P;P;P	0.58210	0.593;0.835;0.241;0.296;0.506;0.407;0.597;0.628;0.689;0.745	T	0.65998	-0.6032	9	0.66056	D	0.02	.	11.6699	0.51395	0.0:0.5466:0.4534:0.0	.	94;94;94;94;94;94;94;94;94;94	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	T	94;94;94;121;54;94;94;94;54;94;94;94	ENSP00000161559:A94T;ENSP00000351165:A94T;ENSP00000325946:A94T;ENSP00000244291:A94T;ENSP00000384709:A94T;ENSP00000384083:A94T;ENSP00000312184:A54T	ENSP00000161559:A94T	A	-	1	0	CEACAM1	47723177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.054000	0.11826	0.425000	0.26087	0.561000	0.74099	GCA		0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		5	380	0	0	0	0.217242	0	5	380				
CNTN5	53942	broad.mit.edu	37	11	100169931	100169931	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:100169931G>A	ENST00000524871.1	+	20	2713	c.2423G>A	c.(2422-2424)gGc>gAc	p.G808D	CNTN5_ENST00000418526.2_Missense_Mutation_p.G734D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G808D|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.G808D|CNTN5_ENST00000528682.1_Missense_Mutation_p.G808D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	808	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAGGCTTCGGCTATATTGTG	0.373																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2422-2424)gGc>gAc		contactin 5							44.0	41.0	42.0					11																	100169931		1824	4079	5903	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100169931G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2423G>A	11.37:g.100169931G>A	ENSP00000435637:p.Gly808Asp					CNTN5_ENST00000279463.3_Missense_Mutation_p.G808D|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G808D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G734D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G808D	p.G808D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	20	2713	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	808			Fibronectin type-III 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2423G>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903641	0.92035	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87761	0.2598	10	0.87932	D	0	.	18.6488	0.91421	0.0:0.0:1.0:0.0	.	734;808	O94779-2;O94779	.;CNTN5_HUMAN	D	808;808;808;734;808	ENSP00000433575:G808D;ENSP00000436185:G808D;ENSP00000435637:G808D;ENSP00000393229:G734D;ENSP00000279463:G808D	ENSP00000279463:G808D	G	+	2	0	CNTN5	99675141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.725000	0.98778	2.660000	0.90430	0.650000	0.86243	GGC		0.373	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		16	42	0	0	0	0.539581	0	16	42				
C16orf78	123970	broad.mit.edu	37	16	49407969	49407969	+	Missense_Mutation	SNP	G	G	A	rs371310295		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:49407969G>A	ENST00000299191.3	+	1	236	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	40						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGCTGGAGCGGAGGCAGGGG	0.512																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(118-120)cGg>cAg		chromosome 16 open reading frame 78		G	GLN/ARG	0,4398		0,0,2199	87.0	82.0	83.0		119	2.7	1.0	16		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf78	NM_144602.2	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	40/266	49407969	1,12997	2199	4300	6499	SO:0001583	missense	123970							g.chr16:49407969G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.119G>A	16.37:g.49407969G>A	ENSP00000299191:p.Arg40Gln						p.R40Q	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			1	236	+			40						Missense_Mutation	SNP	ENST00000299191.3	37	c.119G>A	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510839	0.64522	0.0	1.16E-4	ENSG00000166152	ENST00000299191	T	0.60171	0.21	3.66	2.69	0.31865	.	0.162107	0.29165	N	0.012952	T	0.60689	0.2288	L	0.34521	1.04	0.27472	N	0.952843	D	0.89917	1.0	D	0.77004	0.989	T	0.50276	-0.8847	9	.	.	.	-39.3668	8.6951	0.34291	0.0:0.0:0.7744:0.2256	.	40	Q8WTQ4	CP078_HUMAN	Q	40	ENSP00000299191:R40Q	.	R	+	2	0	C16orf78	47965470	1.000000	0.71417	0.993000	0.49108	0.719000	0.41307	3.808000	0.55598	1.111000	0.41721	0.561000	0.74099	CGG		0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		53	105	0	0	0	0.870114	0	53	105				
ARL6IP6	151188	broad.mit.edu	37	2	153591609	153591609	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:153591609C>T	ENST00000326446.5	+	3	1267	c.556C>T	c.(556-558)Cct>Tct	p.P186S	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	186						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGGAATGTTTCCTCCTACTCC	0.368																																						ENST00000326446.5																			0				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						c.(556-558)Cct>Tct		ADP-ribosylation-like factor 6 interacting protein 6							135.0	130.0	132.0					2																	153591609		2202	4300	6502	SO:0001583	missense	151188					integral to membrane		g.chr2:153591609C>T	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.556C>T	2.37:g.153591609C>T	ENSP00000315357:p.Pro186Ser					ARL6IP6_ENST00000463690.1_3'UTR	p.P186S	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN			3	1267	+			186					B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	c.556C>T	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917872	0.92249	.	.	ENSG00000177917	ENST00000326446	.	.	.	5.87	5.87	0.94306	.	0.144790	0.45606	D	0.000344	T	0.79759	0.4501	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80567	-0.1325	9	0.87932	D	0	-19.3382	18.9906	0.92789	0.0:1.0:0.0:0.0	.	186;186	B3KMZ5;Q8N6S5	.;AR6P6_HUMAN	S	186	.	ENSP00000315357:P186S	P	+	1	0	ARL6IP6	153299855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.883000	0.69721	2.780000	0.95670	0.655000	0.94253	CCT		0.368	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		95	173	0	0	0	0.870114	0	95	173				
PTPRR	5801	broad.mit.edu	37	12	71139699	71139699	+	Silent	SNP	G	G	T	rs191862927		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:71139699G>T	ENST00000283228.2	-	6	1358	c.906C>A	c.(904-906)gtC>gtA	p.V302V	PTPRR_ENST00000378778.1_Silent_p.V96V|PTPRR_ENST00000549308.1_Silent_p.V57V|PTPRR_ENST00000342084.4_Silent_p.V190V|PTPRR_ENST00000440835.2_Silent_p.V57V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	302					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAGGGTCCACGACAACATTCA	0.532																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(904-906)gtC>gtA		protein tyrosine phosphatase, receptor type, R							192.0	142.0	159.0					12																	71139699		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71139699G>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.906C>A	12.37:g.71139699G>T						PTPRR_ENST00000549308.1_Silent_p.V57V|PTPRR_ENST00000440835.2_Silent_p.V57V|PTPRR_ENST00000378778.1_Silent_p.V96V|PTPRR_ENST00000342084.4_Silent_p.V190V	p.V302V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	6	1358	-			302					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.906C>A	CCDS8998.1																																																																																				0.532	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		46	93	1	0	5.20006e-24	0.859065	6.53341e-24	46	93				
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1																			0																																																			101927060							g.chr17:45128735T>C																													17.37:g.45128735T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	196	0	0	0	0.184627	0	5	196				
PBLD	64081	broad.mit.edu	37	10	70045112	70045112	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:70045112T>G	ENST00000358769.2	-	9	949	c.747A>C	c.(745-747)gaA>gaC	p.E249D	PBLD_ENST00000309049.4_Missense_Mutation_p.E249D|PBLD_ENST00000432941.1_Missense_Mutation_p.E249D|PBLD_ENST00000495025.2_Missense_Mutation_p.E249D|PBLD_ENST00000336578.1_Missense_Mutation_p.E216D	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	249					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACCATGCATTTCTTTCTTCC	0.413																																						ENST00000358769.2																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(745-747)gaA>gaC		phenazine biosynthesis-like protein domain containing							111.0	113.0	113.0					10																	70045112		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70045112T>G	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.747A>C	10.37:g.70045112T>G	ENSP00000351619:p.Glu249Asp					PBLD_ENST00000309049.4_Missense_Mutation_p.E249D|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Missense_Mutation_p.E216D|PBLD_ENST00000432941.1_Missense_Mutation_p.E249D	p.E249D	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN			9	949	-			249					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.747A>C	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387613	0.42308	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.31510	1.56;1.56;1.56;1.49	5.24	-5.29	0.02747	.	0.330284	0.30940	N	0.008567	T	0.12135	0.0295	L	0.28649	0.875	0.30356	N	0.784331	B;B	0.10296	0.003;0.0	B;B	0.17979	0.02;0.006	T	0.20638	-1.0269	10	0.14656	T	0.56	-0.2043	0.6303	0.00793	0.1857:0.2154:0.2333:0.3657	.	249;249	C9JIM0;P30039	.;PBLD_HUMAN	D	216;249;249;249	ENSP00000338041:E216D;ENSP00000351619:E249D;ENSP00000308466:E249D;ENSP00000395534:E249D	ENSP00000308466:E249D	E	-	3	2	PBLD	69715118	0.086000	0.21541	0.763000	0.31416	0.996000	0.88848	-1.125000	0.03257	-0.861000	0.04094	0.460000	0.39030	GAA		0.413	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		54	123	0	0	0	0.870114	0	54	123				
KIAA1456	57604	broad.mit.edu	37	8	12879153	12879153	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:12879153A>G	ENST00000524591.2	+	5	1454	c.965A>G	c.(964-966)gAg>gGg	p.E322G	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	322							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAACACTTGGAGTGGCTGAGA	0.418																																						ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(964-966)gAg>gGg		KIAA1456							77.0	73.0	75.0					8																	12879153		1838	4102	5940	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12879153A>G	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.965A>G	8.37:g.12879153A>G	ENSP00000432695:p.Glu322Gly					KIAA1456_ENST00000447063.2_Intron	p.E322G	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			5	1454	+			322					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.965A>G	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.253896	0.22965	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.11063	2.81	4.65	-0.448	0.12230	.	0.773939	0.12624	N	0.452730	T	0.08582	0.0213	L	0.42245	1.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31888	-0.9927	10	0.35671	T	0.21	-2.504	6.5774	0.22575	0.488:0.3706:0.1414:0.0	.	322	Q9P272	K1456_HUMAN	G	322;235	ENSP00000432695:E322G	ENSP00000432695:E322G	E	+	2	0	AC135352.2	12923524	0.403000	0.25319	0.002000	0.10522	0.058000	0.15608	2.018000	0.40991	-0.055000	0.13244	0.459000	0.35465	GAG		0.418	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		41	65	0	0	0	0.870114	0	41	65				
CCDC102A	92922	broad.mit.edu	37	16	57559847	57559847	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:57559847C>G	ENST00000258214.2	-	3	1024	c.778G>C	c.(778-780)Gat>Cat	p.D260H		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	260										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TGGGACTCATCCAGCCGTAGC	0.687																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(778-780)Gat>Cat		coiled-coil domain containing 102A							36.0	31.0	32.0					16																	57559847		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57559847C>G	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.778G>C	16.37:g.57559847C>G	ENSP00000258214:p.Asp260His						p.D260H	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			3	1024	-			260					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.778G>C	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584710	0.86748	.	.	ENSG00000135736	ENST00000258214	T	0.53423	0.62	5.15	5.15	0.70609	.	0.113950	0.56097	D	0.000032	T	0.68366	0.2993	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.71820	-0.4477	10	0.66056	D	0.02	-29.7838	17.9948	0.89179	0.0:1.0:0.0:0.0	.	260	Q96A19	C102A_HUMAN	H	260	ENSP00000258214:D260H	ENSP00000258214:D260H	D	-	1	0	CCDC102A	56117348	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.425000	0.80255	2.573000	0.86826	0.467000	0.42956	GAT		0.687	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		7	24	0	0	0	0.411799	0	7	24				
TCF20	6942	broad.mit.edu	37	22	42605832	42605832	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr22:42605832G>T	ENST00000359486.3	-	1	5616	c.5480C>A	c.(5479-5481)tCc>tAc	p.S1827Y	TCF20_ENST00000404876.1_Missense_Mutation_p.S128Y|TCF20_ENST00000335626.4_Missense_Mutation_p.S1827Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1827					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGGGCACGGAGGGCTTCGA	0.542																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5479-5481)tCc>tAc		transcription factor 20 (AR1)							121.0	123.0	122.0					22																	42605832		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605832G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5480C>A	22.37:g.42605832G>T	ENSP00000352463:p.Ser1827Tyr					TCF20_ENST00000335626.4_Missense_Mutation_p.S1827Y|TCF20_ENST00000404876.1_Missense_Mutation_p.S128Y	p.S1827Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5616	-			1827					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5480C>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622247	0.28889	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.69806	0.19;0.19;-0.43	6.07	5.05	0.67936	.	0.630562	0.15682	N	0.249856	T	0.68100	0.2964	L	0.47716	1.5	0.41198	D	0.986359	P;P	0.41265	0.744;0.628	P;B	0.45856	0.495;0.299	T	0.70226	-0.4930	10	0.62326	D	0.03	-1.1406	15.2306	0.73383	0.0:0.1558:0.8442:0.0	.	1827;1827	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	1827;1827;128	ENSP00000352463:S1827Y;ENSP00000335561:S1827Y;ENSP00000385531:S128Y	ENSP00000335561:S1827Y	S	-	2	0	TCF20	40935776	1.000000	0.71417	0.429000	0.26710	0.636000	0.38137	4.170000	0.58229	1.568000	0.49683	0.655000	0.94253	TCC		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		106	200	1	0	1.56001e-33	0.870114	2.03841e-33	106	200				
NAGPA	51172	broad.mit.edu	37	16	5081819	5081819	+	Silent	SNP	C	C	A	rs138461608		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:5081819C>A	ENST00000312251.3	-	3	628	c.609G>T	c.(607-609)gtG>gtT	p.V203V	ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000381955.3_Silent_p.V203V|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	203					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GAATCAGCCACACGACCCCAC	0.557																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(607-609)gtG>gtT		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)	C		1,4393	2.1+/-5.4	0,1,2196	197.0	169.0	178.0		609	1.3	1.0	16	dbSNP_134	178	0,8600		0,0,4300	no	coding-synonymous	NAGPA	NM_016256.3		0,1,6496	AA,AC,CC		0.0,0.0228,0.0077		203/516	5081819	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5081819C>A	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.609G>T	16.37:g.5081819C>A						RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Silent_p.V203V	p.V203V	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			3	628	-			203					B2RAS1|Q96EJ8	Silent	SNP	ENST00000312251.3	37	c.609G>T	CCDS10527.1																																																																																				0.557	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		97	174	1	0	1.39521e-32	0.870114	1.79908e-32	97	174				
PBRM1	55193	broad.mit.edu	37	3	52712614	52712614	+	Splice_Site	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:52712614C>A	ENST00000296302.7	-	2	140		c.e2-1		PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACACGGCAATCTACACATTAG	0.393			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.e2-1		polybromo 1							97.0	89.0	92.0					3																	52712614		2203	4300	6503	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52712614C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.139-1G>T	3.37:g.52712614C>A						PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site				Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	2	141	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37			.	.	.	.	.	.	.	.	.	.	C	17.81	3.481403	0.63849	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7359	0.91755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52687654	1.000000	0.71417	0.999000	0.59377	0.708000	0.40852	7.201000	0.77847	2.432000	0.82394	0.460000	0.39030	.		0.393	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	42	34	1	0	3.38236e-24	0.827153	4.30482e-24	42	34				
RAB8A	4218	broad.mit.edu	37	19	16240404	16240404	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:16240404A>T	ENST00000300935.3	+	7	794	c.521A>T	c.(520-522)gAc>gTc	p.D174V	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Silent_p.G167G|CTD-2231E14.8_ENST00000599676.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	174					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GCAAAAATGGACAAAAAATTG	0.517																																						ENST00000300935.3																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						c.(520-522)gAc>gTc		RAB8A, member RAS oncogene family							145.0	144.0	144.0					19																	16240404		2203	4300	6503	SO:0001583	missense	4218				cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding	g.chr19:16240404A>T		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.521A>T	19.37:g.16240404A>T	ENSP00000300935:p.Asp174Val					CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Silent_p.G167G	p.D174V	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN			7	794	+			174					B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	ENST00000300935.3	37	c.521A>T	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006486	0.54361	.	.	ENSG00000167461	ENST00000300935	T	0.78707	-1.2	4.56	4.56	0.56223	.	0.047497	0.85682	D	0.000000	T	0.65460	0.2693	N	0.19112	0.55	0.80722	D	1	B	0.16603	0.018	B	0.20955	0.032	T	0.64300	-0.6440	10	0.62326	D	0.03	.	12.7446	0.57273	1.0:0.0:0.0:0.0	.	174	P61006	RAB8A_HUMAN	V	174	ENSP00000300935:D174V	ENSP00000300935:D174V	D	+	2	0	RAB8A	16101404	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.097000	0.94193	1.696000	0.51158	0.402000	0.26972	GAC		0.517	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		76	180	0	0	0	0.870114	0	76	180				
CADPS	8618	broad.mit.edu	37	3	62498425	62498425	+	Splice_Site	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:62498425C>A	ENST00000383710.4	-	17	2949		c.e17+1		CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATTGGTTCACCTGCATCCTT	0.358																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.e17+1		Ca++-dependent secretion activator							80.0	79.0	79.0					3																	62498425		1852	4092	5944	SO:0001630	splice_region_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62498425C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2599+1G>T	3.37:g.62498425C>A						CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron		NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	17	2949	-		Lung SC(41;0.0452)						A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP	ENST00000383710.4	37		CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636550	0.47049	.	.	ENSG00000163618	ENST00000383710;ENST00000491424	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8024	0.96513	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62473465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.551000	0.73909	2.752000	0.94435	0.655000	0.94253	.		0.358	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	Intron	8	16	1	0	2.17888e-05	0.335167	2.39921e-05	8	16				
NTNG1	22854	broad.mit.edu	37	1	107691260	107691260	+	Silent	SNP	G	G	A	rs201986277		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:107691260G>A	ENST00000370068.1	+	2	891	c.45G>A	c.(43-45)acG>acA	p.T15T	NTNG1_ENST00000370067.1_Silent_p.T15T|NTNG1_ENST00000370073.2_Silent_p.T15T|NTNG1_ENST00000370070.2_Silent_p.T15T|NTNG1_ENST00000542803.1_Silent_p.T15T|NTNG1_ENST00000370066.1_Silent_p.T15T|NTNG1_ENST00000370071.2_Silent_p.T15T|NTNG1_ENST00000370072.3_Silent_p.T15T|NTNG1_ENST00000370061.3_Silent_p.T15T|NTNG1_ENST00000370065.1_Silent_p.T15T|NTNG1_ENST00000370074.4_Silent_p.T15T			Q9Y2I2	NTNG1_HUMAN	netrin G1	15					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTTGGGTTACGGTGTCCTCAG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19913	0.0		0.001	False		,,,				2504	0.0					ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(43-45)acG>acA		netrin G1							211.0	190.0	197.0					1																	107691260		2203	4300	6503	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107691260G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.45G>A	1.37:g.107691260G>A						NTNG1_ENST00000370061.3_Silent_p.T15T|NTNG1_ENST00000370066.1_Silent_p.T15T|NTNG1_ENST00000370068.1_Silent_p.T15T|NTNG1_ENST00000370070.2_Silent_p.T15T|NTNG1_ENST00000370071.2_Silent_p.T15T|NTNG1_ENST00000370073.2_Silent_p.T15T|NTNG1_ENST00000370074.4_Silent_p.T15T|NTNG1_ENST00000370065.1_Silent_p.T15T|NTNG1_ENST00000542803.1_Silent_p.T15T|NTNG1_ENST00000370072.3_Silent_p.T15T	p.T15T			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	2	672	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	15					Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.45G>A	CCDS44180.1																																																																																				0.413	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		6	281	0	0	0	0.248553	0	6	281				
LMBR1L	55716	broad.mit.edu	37	12	49495053	49495053	+	Silent	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:49495053G>T	ENST00000267102.8	-	13	1404	c.1062C>A	c.(1060-1062)gtC>gtA	p.V354V	LMBR1L_ENST00000553204.1_5'Flank|LMBR1L_ENST00000547382.1_Intron|LMBR1L_ENST00000395141.4_Silent_p.V349V	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	354					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAACCTGAATGACGGCACCAA	0.532																																						ENST00000267102.8																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1060-1062)gtC>gtA		limb development membrane protein 1-like							129.0	112.0	118.0					12																	49495053		2203	4300	6503	SO:0001819	synonymous_variant	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49495053G>T	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1062C>A	12.37:g.49495053G>T						LMBR1L_ENST00000395141.4_Silent_p.V349V|LMBR1L_ENST00000547382.1_Intron	p.V354V	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN			13	1404	-			354					Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	c.1062C>A	CCDS8780.2																																																																																				0.532	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		24	68	1	0	9.86323e-18	0.667858	1.17878e-17	24	68				
CEP192	55125	broad.mit.edu	37	18	13056677	13056677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr18:13056677C>A	ENST00000325971.8	+	17	3893	c.2300C>A	c.(2299-2301)tCa>tAa	p.S767*	CEP192_ENST00000430049.2_Nonsense_Mutation_p.S888*|CEP192_ENST00000506447.1_Nonsense_Mutation_p.S1363*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	767					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCATGGGATTCAGGAGTGACA	0.373																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4087-4089)tCa>tAa		centrosomal protein 192kDa							136.0	141.0	139.0					18																	13056677		2202	4300	6502	SO:0001587	stop_gained	55125							g.chr18:13056677C>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2300C>A	18.37:g.13056677C>A	ENSP00000317156:p.Ser767*					CEP192_ENST00000325971.8_Nonsense_Mutation_p.S767*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.S888*	p.S1363*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	4168	+			958					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37	c.4088C>A		.	.	.	.	.	.	.	.	.	.	C	38	7.242864	0.98157	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	4.94	4.94	0.65067	.	0.161766	0.29956	N	0.010769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3466	7.6708	0.28457	0.1658:0.7436:0.0:0.0906	.	.	.	.	X	1363;767;767;888	.	ENSP00000317156:S767X	S	+	2	0	CEP192	13046677	0.943000	0.32029	1.000000	0.80357	0.732000	0.41865	1.785000	0.38684	2.286000	0.76751	0.655000	0.94253	TCA		0.373	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		4	172	1	0	0.150653	0.150653	0.157064	4	172				
COX11	1353	broad.mit.edu	37	17	53042201	53042201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:53042201C>A	ENST00000299335.3	-	2	517	c.379G>T	c.(379-381)Gga>Tga	p.G127*	COX11_ENST00000571584.1_Nonsense_Mutation_p.G127*	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	127					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GCTGATCCTCCAAGTCCAGTA	0.328																																						ENST00000299335.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						c.(379-381)Gga>Tga		cytochrome c oxidase assembly homolog 11 (yeast)							86.0	78.0	81.0					17																	53042201		2203	4300	6503	SO:0001587	stop_gained	1353				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity	g.chr17:53042201C>A	AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"""Mitochondrial respiratory chain complex assembly factors"""	2261	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit 11"", ""cytochrome c oxidase assembly protein COX11"""	603648	"""COX11 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX11 cytochrome c oxidase assembly homolog (yeast)"""			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.379G>T	17.37:g.53042201C>A	ENSP00000299335:p.Gly127*					COX11_ENST00000571584.1_Nonsense_Mutation_p.G127*	p.G127*	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN			2	517	-			127					D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Nonsense_Mutation	SNP	ENST00000299335.3	37	c.379G>T	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438814	0.96168	.	.	ENSG00000166260	ENST00000299335	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.7084	16.3986	0.83631	0.0:1.0:0.0:0.0	.	.	.	.	X	127	.	ENSP00000299335:G127X	G	-	1	0	COX11	50397200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.805000	0.96524	0.655000	0.94253	GGA		0.328	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		4	149	1	0	0.00909568	0.150653	0.00968888	4	149				
COL5A2	1290	broad.mit.edu	37	2	189964840	189964840	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:189964840A>T	ENST00000374866.3	-	4	636	c.362T>A	c.(361-363)gTg>gAg	p.V121E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	121					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACAACAGGCACTAATCCTGG	0.308																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(361-363)gTg>gAg		collagen, type V, alpha 2							70.0	69.0	69.0					2																	189964840		2203	4298	6501	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189964840A>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.362T>A	2.37:g.189964840A>T	ENSP00000364000:p.Val121Glu						p.V121E	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		4	636	-			121					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.362T>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.304960	0.81247	.	.	ENSG00000204262	ENST00000374866	D	0.96619	-4.07	5.44	5.44	0.79542	.	0.141721	0.31566	N	0.007437	D	0.95623	0.8577	L	0.42245	1.32	0.58432	D	0.999999	D	0.61080	0.989	P	0.53760	0.734	D	0.94783	0.7955	9	.	.	.	.	13.7057	0.62636	1.0:0.0:0.0:0.0	.	121	P05997	CO5A2_HUMAN	E	121	ENSP00000364000:V121E	.	V	-	2	0	COL5A2	189673085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.566000	0.73978	2.055000	0.61198	0.533000	0.62120	GTG		0.308	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		4	150	0	0	0	0.184627	0	4	150				
ACADS	35	broad.mit.edu	37	12	121175723	121175723	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:121175723A>G	ENST00000242592.4	+	5	707	c.556A>G	c.(556-558)Atc>Gtc	p.I186V	ACADS_ENST00000411593.2_Intron|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	186					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CAAAGCCTGGATCACCAATGC	0.637																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.(556-558)Atc>Gtc		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						66.0	65.0	65.0					12																	121175723		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121175723A>G	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.556A>G	12.37:g.121175723A>G	ENSP00000242592:p.Ile186Val					ACADS_ENST00000411593.2_Intron	p.I186V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			5	707	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	186					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.556A>G	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829709	0.71258	.	.	ENSG00000122971	ENST00000242592	D	0.96136	-3.92	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.93006	0.7774	N	0.13299	0.325	0.80722	D	1	B;B	0.29590	0.25;0.25	B;B	0.43360	0.417;0.417	D	0.92644	0.6127	10	0.72032	D	0.01	.	14.6059	0.68478	1.0:0.0:0.0:0.0	.	186;186	E5KSD5;P16219	.;ACADS_HUMAN	V	186	ENSP00000242592:I186V	ENSP00000242592:I186V	I	+	1	0	ACADS	119660106	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.900000	0.92551	1.855000	0.53841	0.379000	0.24179	ATC		0.637	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		23	93	0	0	0	0.667858	0	23	93				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			101927060							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	59	0	0	0	0.150653	0	4	59				
PICALM	8301	broad.mit.edu	37	11	85733457	85733457	+	Silent	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:85733457T>C	ENST00000393346.3	-	4	553	c.405A>G	c.(403-405)gcA>gcG	p.A135A	PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Silent_p.A135A|PICALM_ENST00000526033.1_Silent_p.A135A|PICALM_ENST00000356360.5_Silent_p.A135A|PICALM_ENST00000528398.1_Silent_p.A84A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	135	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTATGAAACTGCTTTCTCAT	0.284			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(403-405)gcA>gcG		phosphatidylinositol binding clathrin assembly protein							100.0	104.0	103.0					11																	85733457		2202	4294	6496	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85733457T>C	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.405A>G	11.37:g.85733457T>C						PICALM_ENST00000393346.3_Silent_p.A135A|PICALM_ENST00000356360.5_Silent_p.A135A|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Silent_p.A135A|PICALM_ENST00000528398.1_Silent_p.A84A	p.A135A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			4	721	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	135			ENTH.		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.405A>G	CCDS8272.1																																																																																				0.284	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		76	149	0	0	0	0.870114	0	76	149				
ZMYND8	23613	broad.mit.edu	37	20	45905190	45905190	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr20:45905190G>A	ENST00000311275.7	-	11	1541	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGAGCGCGGCATATCCGAC	0.597																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1288-1290)Ccg>Tcg		zinc finger, MYND-type containing 8							77.0	66.0	70.0					20																	45905190		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905190G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1288C>T	20.37:g.45905190G>A	ENSP00000312237:p.Pro430Ser					ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S	p.P430S			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1541	-			430					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1288C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151142|3.151142	0.57151|0.57151	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.96459	.|-3.03;-2.85;-2.93;-2.97;-2.91;-2.94;-3.0;-2.91;-2.88;-4.02;-3.0;-3.04;-1.76	5.51|5.51	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97294|0.97294	0.9115|0.9115	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999995|0.999995	.|D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	.|0.89917	.|0.998;0.909;1.0;1.0;1.0;1.0;0.997;1.0;0.997;0.995;1.0;1.0;1.0;1.0;1.0;0.767;0.998;0.998	.|D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D;D	.|0.97110	.|0.984;0.863;1.0;1.0;1.0;1.0;0.98;0.999;0.973;0.98;0.999;1.0;1.0;1.0;1.0;0.359;0.984;0.994	D|D	0.96629|0.96629	0.9465|0.9465	5|10	.|0.33940	.|T	.|0.23	-16.235|-16.235	15.6606|15.6606	0.77186|0.77186	0.0:0.0:0.8617:0.1383|0.0:0.0:0.8617:0.1383	.|.	.|425;457;425;425;405;424;450;430;425;450;450;430;367;425;425;450;425;430	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	V|S	356|425;430;425;430;450;450;430;457;430;367;450;425;425	.|ENSP00000354166:P425S;ENSP00000312237:P430S;ENSP00000392964:P425S;ENSP00000262975:P430S;ENSP00000420095:P450S;ENSP00000335537:P450S;ENSP00000379577:P430S;ENSP00000439800:P457S;ENSP00000348246:P430S;ENSP00000396725:P367S;ENSP00000418210:P450S;ENSP00000361093:P425S;ENSP00000443086:P425S	.|ENSP00000262975:P430S	A|P	-|-	2|1	0|0	ZMYND8|ZMYND8	45338597|45338597	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.328000|0.328000	0.28507|0.28507	9.338000|9.338000	0.96553|0.96553	1.305000|1.305000	0.44909|0.44909	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.597	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	140	0	0	0	0.150653	0	4	140				
MLLT1	4298	broad.mit.edu	37	19	6216490	6216490	+	Silent	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:6216490G>C	ENST00000252674.7	-	8	1396	c.1233C>G	c.(1231-1233)tcC>tcG	p.S411S	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	411					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGGACTCCTCGGACTGCAGGT	0.716			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1231-1233)tcC>tcG		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							19.0	18.0	18.0					19																	6216490		2200	4296	6496	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6216490G>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1233C>G	19.37:g.6216490G>C						MLLT1_ENST00000585588.1_5'UTR	p.S411S	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			8	1396	-			411					Q14768	Silent	SNP	ENST00000252674.7	37	c.1233C>G	CCDS12160.1																																																																																				0.716	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		3	13	0	0	0	0.184627	0	3	13				
KL	9365	broad.mit.edu	37	13	33635705	33635705	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr13:33635705T>A	ENST00000380099.3	+	4	2497	c.2489T>A	c.(2488-2490)gTg>gAg	p.V830E	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	830	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTAGAAGTGCAAGAAATG	0.463																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2488-2490)gTg>gAg		klotho							86.0	86.0	86.0					13																	33635705		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635705T>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2489T>A	13.37:g.33635705T>A	ENSP00000369442:p.Val830Glu					KL_ENST00000487852.1_3'UTR	p.V830E	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2497	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	830			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2489T>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524927	0.85600	.	.	ENSG00000133116	ENST00000380099	T	0.32988	1.43	5.91	5.91	0.95273	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.056187	0.64402	D	0.000001	T	0.58337	0.2115	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58154	-0.7686	10	0.35671	T	0.21	-23.0114	16.3436	0.83110	0.0:0.0:0.0:1.0	.	830	Q9UEF7	KLOT_HUMAN	E	830	ENSP00000369442:V830E	ENSP00000369442:V830E	V	+	2	0	KL	32533705	1.000000	0.71417	0.953000	0.39169	0.874000	0.50279	7.363000	0.79516	2.269000	0.75478	0.533000	0.62120	GTG		0.463	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			41	89	0	0	0	0.834066	0	41	89				
DHRS7B	25979	broad.mit.edu	37	17	21087063	21087063	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:21087063G>T	ENST00000395511.3	+	4	786	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L	DHRS7B_ENST00000579303.1_Missense_Mutation_p.V141L|DHRS7B_ENST00000581463.1_5'Flank	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	156						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGACACCACAGTGGATGTGGA	0.473																																						ENST00000395511.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(466-468)Gtg>Ttg		dehydrogenase/reductase (SDR family) member 7B							143.0	116.0	125.0					17																	21087063		2203	4300	6503	SO:0001583	missense	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21087063G>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.466G>T	17.37:g.21087063G>T	ENSP00000378887:p.Val156Leu					DHRS7B_ENST00000579303.1_Missense_Mutation_p.V141L	p.V156L	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			4	786	+			156					B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	ENST00000395511.3	37	c.466G>T	CCDS11215.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385747	0.25031	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	D	0.87103	-2.21	5.63	-11.3	0.00108	NAD(P)-binding domain (1);	1.273900	0.05054	N	0.478656	T	0.61022	0.2314	N	0.01729	-0.75	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.57728	-0.7761	10	0.06494	T	0.89	.	11.7984	0.52112	0.2648:0.4303:0.3049:0.0	.	156	Q6IAN0	DRS7B_HUMAN	L	156	ENSP00000378887:V156L	ENSP00000320352:V156L	V	+	1	0	DHRS7B	21027655	0.000000	0.05858	0.000000	0.03702	0.989000	0.77384	-0.584000	0.05800	-1.606000	0.01591	-0.310000	0.09108	GTG		0.473	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		24	49	1	0	2.39556e-15	0.639603	2.8285e-15	24	49				
BPIFB4	149954	broad.mit.edu	37	20	31671202	31671202	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr20:31671202C>T	ENST00000375483.3	+	3	199	c.199C>T	c.(199-201)Cat>Tat	p.H67Y		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	67						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAATGACTTCCATGTCCGAGG	0.498																																						ENST00000375483.3																			0											c.(199-201)Cat>Tat		BPI fold containing family B, member 4							91.0	90.0	91.0					20																	31671202		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671202C>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.199C>T	20.37:g.31671202C>T	ENSP00000364632:p.His67Tyr						p.H67Y	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	199	+			67					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.199C>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	c	4.413	0.076346	0.08485	.	.	ENSG00000186191	ENST00000375483	T	0.01397	4.94	2.89	2.89	0.33648	.	0.232356	0.21589	U	0.072135	T	0.01222	0.0040	L	0.27053	0.805	0.19300	N	0.999971	B	0.31949	0.348	B	0.22152	0.038	T	0.50021	-0.8876	10	0.72032	D	0.01	-0.0891	9.3529	0.38149	0.0:1.0:0.0:0.0	.	67	P59827	BPIB4_HUMAN	Y	67	ENSP00000364632:H67Y	ENSP00000364632:H67Y	H	+	1	0	BPIFB4	31134863	0.908000	0.30866	0.597000	0.28824	0.005000	0.04900	3.146000	0.50631	1.607000	0.50170	0.306000	0.20318	CAT		0.498	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		5	213	0	0	0	0.248553	0	5	213				
GSAP	54103	broad.mit.edu	37	7	76950057	76950057	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr7:76950057A>C	ENST00000257626.7	-	26	2152	c.2074T>G	c.(2074-2076)Tta>Gta	p.L692V	GSAP_ENST00000441833.2_Missense_Mutation_p.L13V|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	692					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GGCAGAGGTAAAAACAAACTG	0.388																																						ENST00000257626.7																			0											c.(2074-2076)Tta>Gta		gamma-secretase activating protein							75.0	72.0	73.0					7																	76950057		1866	4110	5976	SO:0001583	missense	54103							g.chr7:76950057A>C		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2074T>G	7.37:g.76950057A>C	ENSP00000257626:p.Leu692Val					GSAP_ENST00000441833.2_Missense_Mutation_p.L13V|GSAP_ENST00000440473.1_5'UTR	p.L692V	NM_017439.3	NP_059135.2					26	2152	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.2074T>G	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173460	0.57584	.	.	ENSG00000186088	ENST00000257626;ENST00000441833;ENST00000415112	T;T;T	0.32988	1.43;1.43;1.43	5.82	0.916	0.19373	.	0.078615	0.52532	D	0.000079	T	0.25158	0.0611	M	0.64997	1.995	0.34674	D	0.724031	P	0.38078	0.617	B	0.36464	0.225	T	0.22417	-1.0217	10	0.59425	D	0.04	.	4.1567	0.10265	0.5207:0.0:0.3283:0.1509	.	692	A4D1B5	GSAP_HUMAN	V	692;13;145	ENSP00000257626:L692V;ENSP00000415402:L13V;ENSP00000396230:L145V	ENSP00000257626:L692V	L	-	1	2	PION	76787993	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	0.995000	0.29706	0.134000	0.18681	-0.250000	0.11733	TTA		0.388	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		30	55	0	0	0	0.740014	0	30	55				
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs150470		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e6+1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11014937C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2528+1G>A	21.37:g.11014937C>T										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	808	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.328	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	3	47	0	0	0	0.115264	0	3	47				
G3BP1	10146	broad.mit.edu	37	5	151166239	151166239	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:151166239T>C	ENST00000394123.3	+	2	203	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	G3BP1_ENST00000356245.3_Missense_Mutation_p.Y20H|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	20	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GAGACAGTATTACACACTGCT	0.458																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(58-60)Tac>Cac		GTPase activating protein (SH3 domain) binding protein 1							139.0	131.0	134.0					5																	151166239		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151166239T>C	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.58T>C	5.37:g.151166239T>C	ENSP00000377681:p.Tyr20His					G3BP1_ENST00000356245.3_Missense_Mutation_p.Y20H|G3BP1_ENST00000543466.1_5'UTR	p.Y20H			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	203	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	20			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.58T>C	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959605	0.74016	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	D;D	0.94046	-3.34;-3.34	5.05	2.64	0.31445	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96240	0.9175	10	0.87932	D	0	-9.1837	9.0531	0.36389	0.0:0.1511:0.0:0.8489	.	20;20	E5RJU8;Q13283	.;G3BP1_HUMAN	H	20	ENSP00000377681:Y20H;ENSP00000348578:Y20H	ENSP00000274596:Y20H	Y	+	1	0	G3BP1	151146432	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	7.629000	0.83207	0.363000	0.24346	0.402000	0.26972	TAC		0.458	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		59	130	0	0	0	0.870114	0	59	130				
DIP2B	57609	broad.mit.edu	37	12	51077010	51077010	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:51077010A>G	ENST00000301180.5	+	10	1330	c.1296A>G	c.(1294-1296)atA>atG	p.I432M		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	432						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGTGCCTATAGAGGTACCTC	0.433																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1294-1296)atA>atG		DIP2 disco-interacting protein 2 homolog B (Drosophila)							154.0	144.0	147.0					12																	51077010		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51077010A>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1296A>G	12.37:g.51077010A>G	ENSP00000301180:p.Ile432Met						p.I432M	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			10	1330	+			432					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1296A>G	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308781	0.60305	.	.	ENSG00000066084	ENST00000301180	T	0.50001	0.76	4.98	2.46	0.29980	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	M	0.82056	2.57	0.53688	D	0.999973	D	0.60575	0.988	D	0.73708	0.981	T	0.61821	-0.6984	10	0.66056	D	0.02	-20.2665	6.2696	0.20947	0.5731:0.1462:0.0:0.2807	.	432	Q9P265	DIP2B_HUMAN	M	432	ENSP00000301180:I432M	ENSP00000301180:I432M	I	+	3	3	DIP2B	49363277	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.765000	0.26546	0.319000	0.23209	0.533000	0.62120	ATA		0.433	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		98	176	0	0	0	0.870114	0	98	176				
UNC79	57578	broad.mit.edu	37	14	94044309	94044309	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr14:94044309A>C	ENST00000393151.2	+	18	2333	c.2333A>C	c.(2332-2334)aAt>aCt	p.N778T	UNC79_ENST00000553484.1_Missense_Mutation_p.N778T|UNC79_ENST00000256339.4_Missense_Mutation_p.N601T|UNC79_ENST00000555664.1_Missense_Mutation_p.N778T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	778					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTTCAAGAATTTTGGACAC	0.433																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2332-2334)aAt>aCt		unc-79 homolog (C. elegans)							199.0	185.0	190.0					14																	94044309		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94044309A>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2333A>C	14.37:g.94044309A>C	ENSP00000376858:p.Asn778Thr					UNC79_ENST00000256339.4_Missense_Mutation_p.N601T|UNC79_ENST00000555664.1_Missense_Mutation_p.N778T|UNC79_ENST00000393151.2_Missense_Mutation_p.N778T	p.N778T			Q9P2D8	UNC79_HUMAN			18	2487	+			778					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2333A>C		.	.	.	.	.	.	.	.	.	.	A	19.16	3.772995	0.69992	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19806	2.12;2.13;2.13;2.13	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	L	0.43152	1.355	0.53005	D	0.999965	B	0.33022	0.394	B	0.37650	0.255	T	0.04165	-1.0972	10	0.72032	D	0.01	-22.9357	15.2958	0.73906	1.0:0.0:0.0:0.0	.	778	C9JQL1	.	T	601;778;778;778;778	ENSP00000256339:N601T;ENSP00000450868:N778T;ENSP00000451360:N778T;ENSP00000376858:N778T	ENSP00000256339:N601T	N	+	2	0	KIAA1409	93114062	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.125000	0.64715	2.024000	0.59613	0.528000	0.53228	AAT		0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		113	247	0	0	0	0.870114	0	113	247				
FBXO39	162517	broad.mit.edu	37	17	6690673	6690673	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:6690673G>A	ENST00000321535.4	+	4	1385	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	419										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCTGCAGGAAATTTACAG	0.418																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1255-1257)Gaa>Aaa		F-box protein 39							137.0	131.0	133.0					17																	6690673		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6690673G>A	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1255G>A	17.37:g.6690673G>A	ENSP00000321386:p.Glu419Lys						p.E419K	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			4	1385	+			419						Missense_Mutation	SNP	ENST00000321535.4	37	c.1255G>A	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844500	0.51164	.	.	ENSG00000177294	ENST00000321535	T	0.13657	2.57	5.23	4.26	0.50523	.	0.281308	0.30714	N	0.009033	T	0.09949	0.0244	N	0.19112	0.55	0.34989	D	0.754796	B	0.26635	0.155	B	0.24155	0.051	T	0.13150	-1.0520	10	0.59425	D	0.04	-11.856	12.2999	0.54868	0.0:0.1703:0.8297:0.0	.	419	Q8N4B4	FBX39_HUMAN	K	419	ENSP00000321386:E419K	ENSP00000321386:E419K	E	+	1	0	FBXO39	6631397	0.999000	0.42202	1.000000	0.80357	0.904000	0.53231	2.239000	0.43079	1.348000	0.45733	0.555000	0.69702	GAA		0.418	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		45	97	0	0	0	0.864702	0	45	97				
DNMT3A	1788	broad.mit.edu	37	2	25470606	25470606	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:25470606A>T	ENST00000264709.3	-	8	1205	c.868T>A	c.(868-870)Ttt>Att	p.F290I	DNMT3A_ENST00000380746.4_Missense_Mutation_p.F101I|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F290I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F67I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	290	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATGCCAAAGCCCCGGCCG	0.652			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(868-870)Ttt>Att		DNA (cytosine-5-)-methyltransferase 3 alpha							44.0	46.0	46.0					2																	25470606		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470606A>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.868T>A	2.37:g.25470606A>T	ENSP00000264709:p.Phe290Ile					DNMT3A_ENST00000380746.4_Missense_Mutation_p.F101I|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F290I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F67I	p.F290I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			8	1205	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		290			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.868T>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026845	0.75390	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.97	4.97	0.65823	PWWP (2);	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	M	0.83603	2.65	0.80722	D	1	D;P	0.60575	0.988;0.922	P;P	0.57057	0.812;0.596	D	0.84890	0.0836	10	0.72032	D	0.01	-3.1685	13.6031	0.62031	1.0:0.0:0.0:0.0	.	290;101	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	I	101;290;290;67	ENSP00000370122:F101I;ENSP00000324375:F290I;ENSP00000264709:F290I;ENSP00000384237:F67I	ENSP00000264709:F290I	F	-	1	0	DNMT3A	25324110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.040000	0.93783	2.088000	0.63022	0.379000	0.24179	TTT		0.652	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		42	50	0	0	0	0.827153	0	42	50				
AAMDC	28971	broad.mit.edu	37	11	77553573	77553573	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:77553573T>C	ENST00000526415.1	+	3	204	c.31T>C	c.(31-33)Tgg>Cgg	p.W11R	AAMDC_ENST00000525409.1_Missense_Mutation_p.W11R|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525034.1_Missense_Mutation_p.W30R|AAMDC_ENST00000533193.1_Missense_Mutation_p.W11R|AAMDC_ENST00000304716.8_Missense_Mutation_p.W11R|AAMDC_ENST00000393427.2_Missense_Mutation_p.W11R|AAMDC_ENST00000527134.1_Missense_Mutation_p.W11R|AAMDC_ENST00000532481.1_Missense_Mutation_p.W11R			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	11	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											TTCCTTATCATGGGGGCAAAT	0.388																																						ENST00000527134.1																			0											c.(31-33)Tgg>Cgg		adipogenesis associated, Mth938 domain containing							49.0	54.0	52.0					11																	77553573		2200	4292	6492	SO:0001583	missense	28971							g.chr11:77553573T>C	BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 67"""	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.31T>C	11.37:g.77553573T>C	ENSP00000431808:p.Trp11Arg					AAMDC_ENST00000525034.1_Missense_Mutation_p.W30R|AAMDC_ENST00000526415.1_Missense_Mutation_p.W11R|AAMDC_ENST00000525409.1_Missense_Mutation_p.W11R|AAMDC_ENST00000393427.2_Missense_Mutation_p.W11R|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000533193.1_Missense_Mutation_p.W11R|AAMDC_ENST00000532481.1_Missense_Mutation_p.W11R|AAMDC_ENST00000304716.8_Missense_Mutation_p.W11R	p.W11R							3	179	+								Q96AQ4|Q9Y6B1	Missense_Mutation	SNP	ENST00000526415.1	37	c.31T>C	CCDS8254.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297767	0.81025	.	.	ENSG00000087884	ENST00000532481;ENST00000526415;ENST00000393427;ENST00000527134;ENST00000304716;ENST00000525409;ENST00000533193;ENST00000525034	T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;0.99;-0.99;-0.99	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.87410	0.2375	10	0.87932	D	0	-8.928	15.6986	0.77521	0.0:0.0:0.0:1.0	.	11;11;11	E9PLK9;Q9H7C9;Q9H7C9-3	.;CK067_HUMAN;.	R	11;11;11;11;11;11;11;30	ENSP00000433293:W11R;ENSP00000431808:W11R;ENSP00000377078:W11R;ENSP00000433281:W11R;ENSP00000307254:W11R;ENSP00000433956:W11R;ENSP00000436086:W11R;ENSP00000432830:W30R	ENSP00000307254:W11R	W	+	1	0	C11orf67	77231221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.788000	0.75105	2.371000	0.80710	0.533000	0.62120	TGG		0.388	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684		51	77	0	0	0	0.870114	0	51	77				
PIP4K2A	5305	broad.mit.edu	37	10	23003251	23003251	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:23003251G>A	ENST00000376573.4	-	1	233	c.5C>T	c.(4-6)gCg>gTg	p.A2V	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	2					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GCCGGGGGTCGCCATGGCCGC	0.687																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(4-6)gCg>gTg		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							55.0	51.0	52.0					10																	23003251		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:23003251G>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.5C>T	10.37:g.23003251G>A	ENSP00000365757:p.Ala2Val						p.A2V	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			1	233	-			2					B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.5C>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	g	15.43	2.832583	0.50845	.	.	ENSG00000150867	ENST00000376573	T	0.26810	1.71	3.65	2.72	0.32119	.	0.170990	0.38897	U	0.001535	T	0.10337	0.0253	N	0.08118	0	0.80722	D	1	P	0.38745	0.645	B	0.22753	0.041	T	0.14952	-1.0454	10	0.72032	D	0.01	.	11.3059	0.49334	0.0:0.0:0.816:0.1839	.	2	P48426	PI42A_HUMAN	V	2	ENSP00000365757:A2V	ENSP00000365757:A2V	A	-	2	0	PIP4K2A	23043257	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	6.298000	0.72763	0.748000	0.32831	0.274000	0.19336	GCG		0.687	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		3	39	0	0	0	0.184627	0	3	39				
PCNT	5116	broad.mit.edu	37	21	47776974	47776974	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:47776974A>T	ENST00000359568.5	+	13	2129	c.2022A>T	c.(2020-2022)gaA>gaT	p.E674D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	674	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGGTCTGGAAACTGAGCACA	0.498																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2020-2022)gaA>gaT		pericentrin							67.0	70.0	69.0					21																	47776974		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47776974A>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2022A>T	21.37:g.47776974A>T	ENSP00000352572:p.Glu674Asp					PCNT_ENST00000480896.1_3'UTR	p.E674D	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			13	2129	+	Breast(49;0.112)		674			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2022A>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529561	0.44969	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.02280	4.36	4.83	4.83	0.62350	.	.	.	.	.	T	0.06142	0.0159	L	0.40543	1.245	0.26582	N	0.973364	D;D	0.64830	0.994;0.989	D;P	0.67103	0.949;0.89	T	0.37820	-0.9689	9	0.37606	T	0.19	.	7.3071	0.26453	0.9003:0.0:0.0997:0.0	.	556;674	O95613-2;O95613	.;PCNT_HUMAN	D	674;661	ENSP00000352572:E674D	ENSP00000338675:E661D	E	+	3	2	PCNT	46601402	0.985000	0.35326	0.532000	0.27989	0.112000	0.19704	2.146000	0.42216	1.810000	0.52873	0.459000	0.35465	GAA		0.498	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		48	95	0	0	0	0.870114	0	48	95				
TSC2	7249	broad.mit.edu	37	16	2111908	2111908	+	Missense_Mutation	SNP	G	G	A	rs137854007|rs137854398		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:2111908G>A	ENST00000219476.3	+	12	1786	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	TSC2_ENST00000350773.4_Missense_Mutation_p.D386N|TSC2_ENST00000568454.1_Missense_Mutation_p.D397N|TSC2_ENST00000353929.4_Missense_Mutation_p.D386N|TSC2_ENST00000382538.6_Missense_Mutation_p.D337N|TSC2_ENST00000401874.2_Missense_Mutation_p.D386N|TSC2_ENST00000439673.2_Missense_Mutation_p.D349N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	386	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCGTCCATGACCTGTTGAC	0.587			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(1156-1158)Gac>Aac		tuberous sclerosis 2							126.0	106.0	113.0					16																	2111908		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2111908G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1156G>A	16.37:g.2111908G>A	ENSP00000219476:p.Asp386Asn					TSC2_ENST00000568454.1_Missense_Mutation_p.D397N|TSC2_ENST00000401874.2_Missense_Mutation_p.D386N|TSC2_ENST00000353929.4_Missense_Mutation_p.D386N|TSC2_ENST00000382538.6_Missense_Mutation_p.D337N|TSC2_ENST00000439673.2_Missense_Mutation_p.D349N|TSC2_ENST00000350773.4_Missense_Mutation_p.D386N	p.D386N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			12	1786	+		Hepatocellular(780;0.0202)	386			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1156G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222075	0.58560	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.29	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.101955	0.64402	D	0.000003	D	0.84732	0.5537	L	0.28115	0.83	0.50632	D	0.999883	B;B;B;B;B;D	0.76494	0.211;0.176;0.151;0.176;0.176;0.999	B;B;B;B;B;D	0.83275	0.147;0.132;0.1;0.132;0.103;0.996	D	0.85269	0.1055	10	0.52906	T	0.07	-33.7499	12.2945	0.54838	0.078:0.0:0.922:0.0	.	337;349;386;386;386;386	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	N	386;386;386;349;337;386	ENSP00000219476:D386N;ENSP00000384468:D386N;ENSP00000248099:D386N;ENSP00000399232:D349N;ENSP00000371978:D337N;ENSP00000344383:D386N	ENSP00000219476:D386N	D	+	1	0	TSC2	2051909	1.000000	0.71417	0.964000	0.40570	0.595000	0.36748	7.316000	0.79007	2.471000	0.83476	0.561000	0.74099	GAC		0.587	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		36	74	0	0	0	0.819951	0	36	74				
UBQLN1	29979	broad.mit.edu	37	9	86292725	86292725	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:86292725G>T	ENST00000376395.4	-	6	1545	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	UBQLN1_ENST00000257468.7_Missense_Mutation_p.T341N	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	341					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCCACCCACAGTGCTGGCAGT	0.522																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(1021-1023)aCt>aAt		ubiquilin 1							81.0	74.0	77.0					9																	86292725		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86292725G>T	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1022C>A	9.37:g.86292725G>T	ENSP00000365576:p.Thr341Asn					UBQLN1_ENST00000257468.7_Missense_Mutation_p.T341N	p.T341N	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			6	1545	-			341					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.1022C>A	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877869	0.33162	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.79749	-1.3;-1.3;-1.3	5.82	4.9	0.64082	.	1.113020	0.06574	N	0.749131	T	0.65471	0.2694	N	0.04686	-0.185	0.09310	N	1	B;B	0.26002	0.016;0.139	B;B	0.24701	0.025;0.055	T	0.46978	-0.9152	10	0.16896	T	0.51	.	13.1784	0.59641	0.0:0.3832:0.6168:0.0	.	341;341	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	N	341;341;138	ENSP00000365576:T341N;ENSP00000257468:T341N;ENSP00000434194:T138N	ENSP00000257468:T341N	T	-	2	0	UBQLN1	85482545	0.486000	0.25980	0.048000	0.18961	0.917000	0.54804	4.533000	0.60615	2.756000	0.94617	0.561000	0.74099	ACT		0.522	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		37	68	1	0	7.04047e-22	0.812448	8.73375e-22	37	68				
SIGLEC11	114132	broad.mit.edu	37	19	50453230	50453230	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:50453230C>T	ENST00000447370.2	-	11	2184	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K	CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Silent_p.K602K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	698					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GACCTCTTCACTTTGGAACCA	0.567																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(2092-2094)aaG>aaA		sialic acid binding Ig-like lectin 11							27.0	24.0	25.0					19																	50453230		2201	4300	6501	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50453230C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.2094G>A	19.37:g.50453230C>T						SIGLEC11_ENST00000426971.2_Silent_p.K602K|CTC-326K19.6_ENST00000451973.1_Intron	p.K698K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	11	2184	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	698						Silent	SNP	ENST00000447370.2	37	c.2094G>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	1.794	-0.478883	0.04414	.	.	ENSG00000161640	ENST00000426971	.	.	.	2.67	0.319	0.15873	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25813	-1.0121	4	.	.	.	.	5.4789	0.16713	0.0:0.6911:0.0:0.3089	.	.	.	.	N	592	.	.	S	-	2	0	SIGLEC11	55145042	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	0.002000	0.14630	-0.140000	0.14226	AGT		0.567	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		10	23	0	0	0	0.361761	0	10	23				
PCDHB3	56132	broad.mit.edu	37	5	140481574	140481574	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:140481574C>T	ENST00000231130.2	+	1	1341	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.562																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1339-1341)aaC>aaT									100.0	94.0	96.0					5																	140481574		2203	4300	6503	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481574C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1341C>T	5.37:g.140481574C>T						AC005754.7_ENST00000607216.1_RNA	p.N447N	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1341	+			447			Cadherin 4.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1341C>T	CCDS4245.1																																																																																				0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		4	182	0	0	0	0.150653	0	4	182				
RAB8A	4218	broad.mit.edu	37	19	16240402	16240402	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:16240402G>C	ENST00000300935.3	+	7	792	c.519G>C	c.(517-519)atG>atC	p.M173I	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.G167R|CTD-2231E14.8_ENST00000599676.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	173					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						AAGCAAAAATGGACAAAAAAT	0.517																																						ENST00000300935.3																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						c.(517-519)atG>atC		RAB8A, member RAS oncogene family							148.0	146.0	147.0					19																	16240402		2203	4300	6503	SO:0001583	missense	4218				cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding	g.chr19:16240402G>C		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.519G>C	19.37:g.16240402G>C	ENSP00000300935:p.Met173Ile					CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.G167R	p.M173I	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN			7	792	+			173					B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	ENST00000300935.3	37	c.519G>C	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149779	0.57151	.	.	ENSG00000167461	ENST00000300935	T	0.79141	-1.24	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	N	0.19112	0.55	0.34072	D	0.658591	B	0.02656	0.0	B	0.04013	0.001	T	0.71705	-0.4512	10	0.56958	D	0.05	.	15.9005	0.79373	0.0:0.0:1.0:0.0	.	173	P61006	RAB8A_HUMAN	I	173	ENSP00000300935:M173I	ENSP00000300935:M173I	M	+	3	0	RAB8A	16101402	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.611000	0.98342	2.087000	0.62958	0.491000	0.48974	ATG		0.517	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		76	184	0	0	0	0.870114	0	76	184				
VKORC1	79001	broad.mit.edu	37	16	31104693	31104693	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:31104693T>G	ENST00000394975.2	-	2	450	c.223A>C	c.(223-225)Atc>Ctc	p.I75L	VKORC1_ENST00000394971.3_Missense_Mutation_p.H106P|VKORC1_ENST00000300851.6_Missense_Mutation_p.H95P|VKORC1_ENST00000498155.1_Missense_Mutation_p.H107P|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.I75L|VKORC1_ENST00000319788.7_Missense_Mutation_p.I75L	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	75					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TGATTGAGGATGCTGTCCTGT	0.612																																						ENST00000319788.7																			0				lung(3)|urinary_tract(1)	4						c.(223-225)Atc>Ctc		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						154.0	111.0	126.0					16																	31104693		2197	4300	6497	SO:0001583	missense	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31104693T>G		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.223A>C	16.37:g.31104693T>G	ENSP00000378426:p.Ile75Leu					VKORC1_ENST00000394975.2_Missense_Mutation_p.I75L|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.I75L|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Missense_Mutation_p.H95P|VKORC1_ENST00000394971.3_Missense_Mutation_p.H106P|VKORC1_ENST00000498155.1_Missense_Mutation_p.H107P	p.I75L			Q9BQB6	VKOR1_HUMAN			2	433	-			75					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.223A>C	CCDS10703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.31|14.31	2.498602|2.498602	0.44455|0.44455	.|.	.|.	ENSG00000167397|ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000300851;ENST00000394971;ENST00000498155|ENST00000319788;ENST00000394975;ENST00000529564	D|D;D;D	0.97620|0.98012	-4.46|-4.44;-4.66;-2.92	6.17|6.17	-10.4|-10.4	0.00318|0.00318	.|Vitamin K epoxide reductase (2);	.|0.960443	.|0.08629	.|N	.|0.917234	D|D	0.90314|0.90314	0.6970|0.6970	N|N	0.16066|0.16066	0.365|0.365	0.09310|0.09310	N|N	1|1	.|B;B	.|0.28850	.|0.225;0.041	.|B;B	.|0.23574	.|0.047;0.034	T|T	0.79145|0.79145	-0.1924|-0.1924	7|10	0.31617|0.05833	T|T	0.26|0.94	-0.6972|-0.6972	15.1369|15.1369	0.72576|0.72576	0.1468:0.6811:0.0:0.172|0.1468:0.6811:0.0:0.172	.|.	.|75;75	.|Q9BQB6-2;Q9BQB6	.|.;VKOR1_HUMAN	P|L	95;106;107|75	ENSP00000300851:H95P|ENSP00000326135:I75L;ENSP00000378426:I75L;ENSP00000431371:I75L	ENSP00000300851:H95P|ENSP00000431371:I75L	H|I	-|-	2|1	0|0	VKORC1|RP11-196G11.1;VKORC1	31012194|31012194	0.001000|0.001000	0.12720|0.12720	0.085000|0.085000	0.20634|0.20634	0.842000|0.842000	0.47809|0.47809	-1.349000|-1.349000	0.02627|0.02627	-1.711000|-1.711000	0.01395|0.01395	-0.290000|-0.290000	0.09829|0.09829	CAT|ATC		0.612	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		32	76	0	0	0	0.819951	0	32	76				
RAP1GAP	5909	broad.mit.edu	37	1	21936688	21936688	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:21936688C>T	ENST00000374765.4	-	14	1124	c.924G>A	c.(922-924)atG>atA	p.M308I	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M339I|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M308I|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.M308I|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M372I	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	308	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGACGCGATCATGTCGGGCA	0.632																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(922-924)atG>atA		RAP1 GTPase activating protein							108.0	83.0	91.0					1																	21936688		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936688C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.924G>A	1.37:g.21936688C>T	ENSP00000363897:p.Met308Ile					RAP1GAP_ENST00000374765.4_Missense_Mutation_p.M308I|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M339I|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M308I|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M372I	p.M308I	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	15	1226	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	308			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.924G>A	CCDS218.1	.	.	.	.	.	.	.	.	.	.	C	35	5.557941	0.96514	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.36	5.36	0.76844	Rap/ran-GAP (2);	0.041485	0.85682	D	0.000000	D	0.94042	0.8091	L	0.45137	1.4	0.80722	D	1	B;D;B;B	0.63046	0.005;0.992;0.011;0.01	B;P;B;B	0.56563	0.006;0.801;0.035;0.016	D	0.94549	0.7752	10	0.87932	D	0	-29.0809	16.9622	0.86275	0.0:1.0:0.0:0.0	.	308;308;338;308	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	I	372;339;308;308;338;308	ENSP00000290101:M372I;ENSP00000363893:M339I;ENSP00000441661:M308I;ENSP00000363897:M308I	ENSP00000290101:M372I	M	-	3	0	RAP1GAP	21809275	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.731000	0.84895	2.688000	0.91661	0.561000	0.74099	ATG		0.632	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		47	73	0	0	0	0.870114	0	47	73				
CEP85	64793	broad.mit.edu	37	1	26584685	26584685	+	Silent	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:26584685G>A	ENST00000252992.4	+	6	1220	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CEP85_ENST00000451429.2_Silent_p.L312L	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	363						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AGAGCGAACTGCAAGTCCACA	0.557																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(1087-1089)ctG>ctA		centrosomal protein 85kDa							129.0	115.0	120.0					1																	26584685		2203	4300	6503	SO:0001819	synonymous_variant	64793					centrosome|nucleolus|spindle pole		g.chr1:26584685G>A	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1089G>A	1.37:g.26584685G>A						CEP85_ENST00000451429.2_Silent_p.L312L	p.L363L	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			6	1220	+			363					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Silent	SNP	ENST00000252992.4	37	c.1089G>A	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.327071	0.24080	.	.	ENSG00000130695	ENST00000453146	.	.	.	6.04	-9.8	0.00490	.	.	.	.	.	T	0.43656	0.1257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52335	-0.8589	4	.	.	.	-4.3278	6.5728	0.22549	0.2034:0.0862:0.526:0.1845	.	.	.	.	Y	37	.	.	C	+	2	0	CEP85	26457272	0.992000	0.36948	0.857000	0.33713	0.900000	0.52787	0.323000	0.19593	-1.305000	0.02327	-0.471000	0.05019	TGC		0.557	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		42	107	0	0	0	0.840704	0	42	107				
MUC5AC	4586	broad.mit.edu	37	11	1159013	1159013	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:1159013C>T	ENST00000356191.2	+	15	1182	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	397					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTGCCTGCGTCTACAACGGGG	0.652																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1180-1182)gtC>gtT		mucin 5AC, oligomeric mucus/gel-forming							69.0	69.0	69.0					11																	1159013		875	1990	2865	SO:0001819	synonymous_variant	4586							g.chr11:1159013C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1182C>T	11.37:g.1159013C>T							p.V394V						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	15	1182	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.1182C>T																																																																																					0.652	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		26	54	0	0	0	0.693898	0	26	54				
SREBF2	6721	broad.mit.edu	37	22	42294664	42294664	+	Missense_Mutation	SNP	A	A	G	rs375253567		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr22:42294664A>G	ENST00000361204.4	+	15	2783	c.2617A>G	c.(2617-2619)Atc>Gtc	p.I873V	MIR33A_ENST00000385197.1_RNA|SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	873					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCCAGACATCATCTGTCGGTG	0.562																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2617-2619)Atc>Gtc		sterol regulatory element binding transcription factor 2		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	134.0	112.0	119.0		2617	-2.6	0.2	22		119	2,8598	2.2+/-6.3	0,2,4298	no	missense	SREBF2	NM_004599.2	29	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	benign	873/1142	42294664	3,13003	2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42294664A>G	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2617A>G	22.37:g.42294664A>G	ENSP00000354476:p.Ile873Val					SREBF2_ENST00000491541.1_3'UTR	p.I873V	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			15	2783	+			873					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.2617A>G	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	1.898	-0.453800	0.04540	2.27E-4	2.33E-4	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.05786	3.39	5.42	-2.6	0.06190	.	0.439888	0.26704	N	0.022927	T	0.01976	0.0062	N	0.01874	-0.695	0.22050	N	0.99939	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	10	0.02654	T	1	-13.3023	14.7967	0.69884	0.3964:0.0:0.6036:0.0	.	873	Q12772	SRBP2_HUMAN	V	873	ENSP00000354476:I873V	ENSP00000354476:I873V	I	+	1	0	SREBF2	40624610	0.845000	0.29573	0.188000	0.23233	0.994000	0.84299	0.243000	0.18106	-0.903000	0.03881	0.533000	0.62120	ATC		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		23	42	0	0	0	0.667858	0	23	42				
SLC28A3	64078	broad.mit.edu	37	9	86900351	86900351	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:86900351T>G	ENST00000376238.4	-	14	1605	c.1556A>C	c.(1555-1557)gAa>gCa	p.E519A	SLC28A3_ENST00000537648.1_Missense_Mutation_p.E450A|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	519					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AGCCACAAATTCATTGAAGAA	0.423																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1555-1557)gAa>gCa		solute carrier family 28 (concentrative nucleoside transporter), member 3							104.0	104.0	104.0					9																	86900351		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86900351T>G	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1556A>C	9.37:g.86900351T>G	ENSP00000365413:p.Glu519Ala					SLC28A3_ENST00000537648.1_Missense_Mutation_p.E450A|RP11-380F14.2_ENST00000419815.1_RNA	p.E519A	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			14	1605	-			519					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1556A>C	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434756	0.83885	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.18338	2.22;2.22	5.74	4.59	0.56863	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	H	0.95850	3.73	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.67169	-0.5738	10	0.87932	D	0	-26.123	12.0651	0.53583	0.0:0.0675:0.0:0.9325	.	519	Q9HAS3	S28A3_HUMAN	A	519;450	ENSP00000365413:E519A;ENSP00000446438:E450A	ENSP00000365413:E519A	E	-	2	0	SLC28A3	86090171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.941000	0.87700	1.099000	0.41499	0.459000	0.35465	GAA		0.423	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		57	103	0	0	0	0.870114	0	57	103				
MTSS1	9788	broad.mit.edu	37	8	125603469	125603469	+	Silent	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:125603469G>T	ENST00000518547.1	-	4	689	c.216C>A	c.(214-216)acC>acA	p.T72T	MTSS1_ENST00000378017.3_Silent_p.T72T|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.T72T	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	72	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATCTCCCTGGTCCCACCTG	0.498																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(214-216)acC>acA		metastasis suppressor 1							127.0	102.0	110.0					8																	125603469		2203	4300	6503	SO:0001819	synonymous_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125603469G>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.216C>A	8.37:g.125603469G>T						MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Silent_p.T72T|MTSS1_ENST00000325064.5_Silent_p.T72T	p.T72T	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	689	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		72			IMD.		J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	c.216C>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	2.282	-0.364497	0.05103	.	.	ENSG00000170873	ENST00000522162	.	.	.	5.77	3.93	0.45458	.	.	.	.	.	T	0.63426	0.2510	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60105	-0.7328	4	.	.	.	-27.6392	12.5666	0.56314	0.0:0.1274:0.7398:0.1327	.	.	.	.	Q	67	.	.	P	-	2	0	MTSS1	125672650	0.999000	0.42202	0.870000	0.34147	0.247000	0.25773	1.259000	0.32956	0.752000	0.32923	0.650000	0.86243	CCA		0.498	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		25	74	1	0	9.39395e-14	0.706142	1.09596e-13	25	74				
NPHP3	27031	broad.mit.edu	37	3	132432049	132432049	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:132432049T>A	ENST00000337331.5	-	6	1125	c.1039A>T	c.(1039-1041)Aat>Tat	p.N347Y	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Missense_Mutation_p.N347Y	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	347					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGTATTGATTTTCAACATCT	0.284																																						ENST00000326682.8																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1039-1041)Aat>Tat		nephronophthisis 3 (adolescent)							44.0	46.0	45.0					3																	132432049		2199	4273	6472	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132432049T>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1039A>T	3.37:g.132432049T>A	ENSP00000338766:p.Asn347Tyr					NPHP3_ENST00000337331.5_Missense_Mutation_p.N347Y|NPHP3_ENST00000476742.1_5'UTR	p.N347Y			Q7Z494	NPHP3_HUMAN			6	1115	-			347					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.1039A>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.440784	0.63067	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91996	-2.95;-2.84	6.02	4.86	0.63082	.	0.247012	0.47852	D	0.000210	D	0.88362	0.6416	L	0.43152	1.355	0.80722	D	1	B	0.33857	0.429	B	0.33295	0.161	D	0.86332	0.1699	10	0.54805	T	0.06	-26.2459	12.3177	0.54966	0.0:0.0662:0.0:0.9338	.	347	Q7Z494	NPHP3_HUMAN	Y	347	ENSP00000319909:N347Y;ENSP00000338766:N347Y	ENSP00000319909:N347Y	N	-	1	0	NPHP3	133914739	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.148000	0.50647	1.087000	0.41251	0.482000	0.46254	AAT		0.284	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		53	81	0	0	0	0.870114	0	53	81				
CD44	960	broad.mit.edu	37	11	35198275	35198275	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:35198275T>A	ENST00000428726.2	+	2	344	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	CD44_ENST00000433354.2_Missense_Mutation_p.F74Y|CD44_ENST00000434472.2_Missense_Mutation_p.F74Y|CD44_ENST00000360158.4_Missense_Mutation_p.F74Y|CD44_ENST00000263398.6_Missense_Mutation_p.F74Y|CD44_ENST00000437706.2_Missense_Mutation_p.F74Y|CD44_ENST00000278386.6_Missense_Mutation_p.F74Y|CD44_ENST00000449691.2_Missense_Mutation_p.F74Y|CD44_ENST00000526025.1_Missense_Mutation_p.F74Y|CD44_ENST00000352818.4_Missense_Mutation_p.F74Y|CD44_ENST00000415148.2_Missense_Mutation_p.F74Y|CD44_ENST00000433892.2_Missense_Mutation_p.F74Y|CD44_ENST00000526669.2_Missense_Mutation_p.F74Y	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	74	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGCATCGGATTTGAGACCTGC	0.592																																						ENST00000263398.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(220-222)tTt>tAt		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						47.0	45.0	45.0					11																	35198275		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35198275T>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.221T>A	11.37:g.35198275T>A	ENSP00000398632:p.Phe74Tyr					CD44_ENST00000434472.2_Missense_Mutation_p.F74Y|CD44_ENST00000433892.2_Missense_Mutation_p.F74Y|CD44_ENST00000433354.2_Missense_Mutation_p.F74Y|CD44_ENST00000360158.4_Missense_Mutation_p.F74Y|CD44_ENST00000526669.2_Missense_Mutation_p.F74Y|CD44_ENST00000437706.2_Missense_Mutation_p.F74Y|CD44_ENST00000352818.4_Missense_Mutation_p.F74Y|CD44_ENST00000526025.1_Missense_Mutation_p.F74Y|CD44_ENST00000278386.6_Missense_Mutation_p.F74Y|CD44_ENST00000449691.2_Missense_Mutation_p.F74Y|CD44_ENST00000428726.2_Missense_Mutation_p.F74Y|CD44_ENST00000415148.2_Missense_Mutation_p.F74Y	p.F74Y	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		2	655	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	74			Link.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.221T>A	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.288417|4.288417	0.80803|0.80803	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000526025;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000278386;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526669;ENST00000526000;ENST00000279452|ENST00000527889	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.08720|.	3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06|.	5.85|5.85	5.85|5.85	0.93711|0.93711	C-type lectin fold (1);Link (5);C-type lectin-like (1);|.	0.109676|.	0.64402|.	D|.	0.000005|.	T|T	0.69405|0.69405	0.3107|0.3107	L|L	0.56769|0.56769	1.78|1.78	0.46044|0.46044	D|D	0.99883|0.99883	D;D;D;D;D;P;P|.	0.89917|.	1.0;0.996;0.999;0.997;0.986;0.705;0.749|.	D;D;D;D;D;P;P|.	0.97110|.	1.0;0.998;0.998;0.998;0.995;0.904;0.865|.	T|T	0.67879|0.67879	-0.5556|-0.5556	10|5	0.72032|.	D|.	0.01|.	-3.2284|-3.2284	14.2004|14.2004	0.65699|0.65699	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	74;74;74;74;74;74;74|.	B6EAT9;P16070-11;O95370;P16070-12;P16070-10;P16070-4;P16070|.	.;.;.;.;.;.;CD44_HUMAN|.	Y|M	74;74;74;74;74;74;74;74;74;74;74;74;53;53;52;34|30	ENSP00000263398:F74Y;ENSP00000435377:F74Y;ENSP00000389830:F74Y;ENSP00000414567:F74Y;ENSP00000391008:F74Y;ENSP00000403990:F74Y;ENSP00000353280:F74Y;ENSP00000398632:F74Y;ENSP00000392331:F74Y;ENSP00000278386:F74Y;ENSP00000404447:F74Y;ENSP00000309732:F74Y;ENSP00000432405:F53Y;ENSP00000434465:F52Y;ENSP00000279452:F34Y|.	ENSP00000263398:F74Y|.	F|L	+|+	2|1	0|2	CD44|CD44	35154851|35154851	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.594000|0.594000	0.36715|0.36715	5.137000|5.137000	0.64789|0.64789	2.237000|2.237000	0.73441|0.73441	0.459000|0.459000	0.35465|0.35465	TTT|TTG		0.592	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		24	76	0	0	0	0.654019	0	24	76				
IRX1	79192	broad.mit.edu	37	5	3601149	3601149	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:3601149G>A	ENST00000302006.3	+	4	1490	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	480					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTCCCGTCCGCCTGATTAAG	0.582																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1438-1440)Gcc>Acc		iroquois homeobox 1							41.0	46.0	44.0					5																	3601149		2203	4297	6500	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3601149G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1438G>A	5.37:g.3601149G>A	ENSP00000305244:p.Ala480Thr						p.A480T	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			4	1490	+			480					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1438G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061348	0.55432	.	.	ENSG00000170549	ENST00000302006	T	0.64438	-0.1	4.9	4.01	0.46588	.	0.000000	0.85682	U	0.000000	T	0.67382	0.2887	N	0.24115	0.695	0.47123	D	0.999322	D	0.89917	1.0	D	0.81914	0.995	T	0.71477	-0.4581	10	0.66056	D	0.02	.	15.0289	0.71691	0.0:0.1432:0.8568:0.0	.	480	P78414	IRX1_HUMAN	T	480	ENSP00000305244:A480T	ENSP00000305244:A480T	A	+	1	0	IRX1	3654149	1.000000	0.71417	0.844000	0.33320	0.733000	0.41908	7.738000	0.84966	1.016000	0.39470	0.655000	0.94253	GCC		0.582	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		35	77	0	0	0	0.840704	0	35	77				
RAP1GAP	5909	broad.mit.edu	37	1	21936673	21936673	+	Silent	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:21936673G>A	ENST00000374765.4	-	14	1139	c.939C>T	c.(937-939)ttC>ttT	p.F313F	RAP1GAP_ENST00000374761.2_Silent_p.F344F|RAP1GAP_ENST00000374763.2_Silent_p.F313F|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000542643.2_Silent_p.F313F|RAP1GAP_ENST00000290101.4_Silent_p.F377F	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	313	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGGCATGCAGGAAGTTGGACG	0.632																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(937-939)ttC>ttT		RAP1 GTPase activating protein							95.0	72.0	80.0					1																	21936673		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936673G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.939C>T	1.37:g.21936673G>A						RAP1GAP_ENST00000374765.4_Silent_p.F313F|RAP1GAP_ENST00000374761.2_Silent_p.F344F|RAP1GAP_ENST00000374763.2_Silent_p.F313F|RAP1GAP_ENST00000290101.4_Silent_p.F377F	p.F313F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	15	1241	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	313			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.939C>T	CCDS218.1																																																																																				0.632	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		41	71	0	0	0	0.840704	0	41	71				
KL	9365	broad.mit.edu	37	13	33635704	33635704	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr13:33635704G>A	ENST00000380099.3	+	4	2496	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	830	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTACCTAGAAGTGCAAGAAAT	0.458																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2488-2490)Gtg>Atg		klotho							86.0	86.0	86.0					13																	33635704		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635704G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2488G>A	13.37:g.33635704G>A	ENSP00000369442:p.Val830Met					KL_ENST00000487852.1_3'UTR	p.V830M	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2496	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	830			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2488G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835958	0.71373	.	.	ENSG00000133116	ENST00000380099	T	0.31769	1.48	5.91	5.06	0.68205	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.056187	0.64402	N	0.000001	T	0.56702	0.2003	M	0.82923	2.615	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.59974	-0.7353	10	0.45353	T	0.12	-23.0114	11.8389	0.52342	0.1396:0.0:0.8604:0.0	.	830	Q9UEF7	KLOT_HUMAN	M	830	ENSP00000369442:V830M	ENSP00000369442:V830M	V	+	1	0	KL	32533704	1.000000	0.71417	0.921000	0.36526	0.854000	0.48673	6.074000	0.71253	1.509000	0.48786	0.655000	0.94253	GTG		0.458	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			40	90	0	0	0	0.827153	0	40	90				
HNRNPU	3192	broad.mit.edu	37	1	245021386	245021386	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:245021386G>C	ENST00000283179.9	-	7	1584	c.1421C>G	c.(1420-1422)aCt>aGt	p.T474S	HNRNPU_ENST00000444376.2_Missense_Mutation_p.T455S|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	474					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTGGATGAAAGTATACTCTTC	0.418																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1363-1365)aCt>aGt		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							71.0	69.0	70.0					1																	245021386		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245021386G>C	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1421C>G	1.37:g.245021386G>C	ENSP00000283179:p.Thr474Ser					HNRNPU_ENST00000283179.9_Missense_Mutation_p.T474S	p.T455S	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		7	1598	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		474			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1364C>G	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422547	0.62622	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.49139	0.79;0.8	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	L	0.43923	1.385	0.80722	D	1	D;B;P;D	0.63880	0.993;0.328;0.589;0.982	D;B;B;D	0.67548	0.935;0.316;0.298;0.952	T	0.50575	-0.8812	10	0.25751	T	0.34	-10.7236	20.5752	0.99366	0.0:0.0:1.0:0.0	.	399;455;474;198	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	S	455;474;399	ENSP00000393151:T455S;ENSP00000283179:T474S	ENSP00000283179:T474S	T	-	2	0	HNRNPU	243088009	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	5.717000	0.68446	2.868000	0.98415	0.557000	0.71058	ACT		0.418	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		43	91	0	0	0	0.840704	0	43	91				
POU5F1	5460	broad.mit.edu	37	6	31138063	31138063	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:31138063G>C	ENST00000259915.8	-	1	407	c.335C>G	c.(334-336)cCg>cGg	p.P112R	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	112					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	GCAGGGCTCCGGGGAGGCCCC	0.657			T	EWSR1	sarcoma																																	ENST00000259915.8				Dom	yes		6	6p21.31	5460	T	"""POU domain, class 5, transcription factor 1"""			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	0				breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						c.(334-336)cCg>cGg		POU class 5 homeobox 1							35.0	39.0	38.0					6																	31138063		1510	2708	4218	SO:0001583	missense	5460				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31138063G>C	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.335C>G	6.37:g.31138063G>C	ENSP00000259915:p.Pro112Arg					POU5F1_ENST00000441888.3_Intron	p.P112R	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN			1	407	-			112					A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	ENST00000259915.8	37	c.335C>G	CCDS34391.1	.	.	.	.	.	.	.	.	.	.	G	9.963	1.223310	0.22457	.	.	ENSG00000204531	ENST00000259915	T	0.18657	2.2	3.96	3.96	0.45880	.	0.000000	0.40385	N	0.001114	T	0.10723	0.0262	L	0.46157	1.445	0.80722	D	1	P	0.49862	0.929	B	0.40134	0.32	T	0.03545	-1.1026	10	0.66056	D	0.02	.	11.6838	0.51474	0.0:0.0:1.0:0.0	.	112	Q01860	PO5F1_HUMAN	R	112	ENSP00000259915:P112R	ENSP00000259915:P112R	P	-	2	0	POU5F1	31246042	0.999000	0.42202	0.888000	0.34837	0.029000	0.11900	4.492000	0.60334	2.211000	0.71520	0.448000	0.29417	CCG		0.657	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		19	53	0	0	0	0.575678	0	19	53				
ZBTB11	27107	broad.mit.edu	37	3	101378747	101378747	+	Silent	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:101378747A>T	ENST00000312938.4	-	6	2506	c.1926T>A	c.(1924-1926)tcT>tcA	p.S642S	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCCCTTCTCAGATGATGTTC	0.423																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1924-1926)tcT>tcA		zinc finger and BTB domain containing 11							147.0	135.0	139.0					3																	101378747		2203	4300	6503	SO:0001819	synonymous_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378747A>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1926T>A	3.37:g.101378747A>T							p.S642S	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			6	2506	-			642					Q2NKP9	Silent	SNP	ENST00000312938.4	37	c.1926T>A	CCDS2943.1																																																																																				0.423	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		54	110	0	0	0	0.870114	0	54	110				
DNER	92737	broad.mit.edu	37	2	230253114	230253114	+	Splice_Site	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:230253114T>G	ENST00000341772.4	-	11	1858		c.e11-2			NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACTCTTCACCTAGGGAGATAA	0.483																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.e11-2		delta/notch-like EGF repeat containing							110.0	110.0	110.0					2																	230253114		2203	4300	6503	SO:0001630	splice_region_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230253114T>G	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1724-2A>C	2.37:g.230253114T>G								NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	11	1858	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)						A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Splice_Site	SNP	ENST00000341772.4	37		CCDS33390.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418857	0.42918	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6101	0.76710	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNER	229961358	1.000000	0.71417	0.971000	0.41717	0.180000	0.23129	7.116000	0.77119	2.173000	0.68751	0.523000	0.50628	.		0.483	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	Intron	4	229	0	0	0	0.150653	0	4	229				
CBR3	874	broad.mit.edu	37	21	37505046	37505046	+	5'Flank	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:37505046T>A	ENST00000290354.5	+	0	0				CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3						cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	ATCCTGGGCCTGAAGATCAAT	0.542																																						ENST00000413862.1																			0																																																	SO:0001631	upstream_gene_variant	100506428							g.chr21:37505046T>A	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617		21.37:g.37505046T>A	Exception_encountered					CBR3-AS1_ENST00000453159.1_RNA		NR_038892.1						0	580	-								Q6FHP2	RNA	SNP	ENST00000290354.5	37		CCDS13642.1																																																																																				0.542	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			2	6	0	0	0	0.115264	0	2	6				
KAT6A	7994	broad.mit.edu	37	8	41790405	41790405	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:41790405G>T	ENST00000396930.3	-	18	5876	c.5333C>A	c.(5332-5334)aCt>aAt	p.T1778N	KAT6A_ENST00000265713.2_Missense_Mutation_p.T1778N|KAT6A_ENST00000406337.1_Missense_Mutation_p.T1778N	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1778					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGCATAGGAAGTCACAGCAGG	0.532																																						ENST00000396930.3																			0											c.(5332-5334)aCt>aAt		K(lysine) acetyltransferase 6A							241.0	233.0	236.0					8																	41790405		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790405G>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5333C>A	8.37:g.41790405G>T	ENSP00000380136:p.Thr1778Asn					KAT6A_ENST00000406337.1_Missense_Mutation_p.T1778N|KAT6A_ENST00000265713.2_Missense_Mutation_p.T1778N	p.T1778N	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5876	-			1778					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.5333C>A	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596871	0.28445	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.66815	-0.23;-0.23;-0.23	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.66716	0.946	T	0.71613	-0.4540	10	0.33940	T	0.23	-17.1457	19.1646	0.93551	0.0:0.0:1.0:0.0	.	1778	Q92794	KAT6A_HUMAN	N	1778	ENSP00000265713:T1778N;ENSP00000385888:T1778N;ENSP00000380136:T1778N	ENSP00000265713:T1778N	T	-	2	0	KAT6A	41909562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.497000	0.84241	0.650000	0.86243	ACT		0.532	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		84	165	1	0	6.14238e-36	0.870114	8.13451e-36	84	165				
DMRTB1	63948	broad.mit.edu	37	1	53925249	53925249	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:53925249C>T	ENST00000371445.3	+	1	178	c.123C>T	c.(121-123)taC>taT	p.Y41Y		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGAAGTGCTACCTGATCTCCG	0.657																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(121-123)taC>taT		DMRT-like family B with proline-rich C-terminal, 1							22.0	21.0	21.0					1																	53925249		2203	4300	6503	SO:0001819	synonymous_variant	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53925249C>T	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.123C>T	1.37:g.53925249C>T							p.Y41Y	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			1	178	+			41					Q96SD2	Silent	SNP	ENST00000371445.3	37	c.123C>T	CCDS581.1																																																																																				0.657	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			7	18	0	0	0	0.248553	0	7	18				
NID1	4811	broad.mit.edu	37	1	236195855	236195856	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:236195855_236195856insT	ENST00000264187.6	-	6	1464_1465	c.1382_1383insA	c.(1381-1383)tacfs	p.Y461fs	NID1_ENST00000366595.3_Frame_Shift_Ins_p.Y461fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	461	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TCATTACTACGTAAGAGTGGAG	0.545																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(1381-1383)tgtfs		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236195855_236195856insT	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1383dupA	1.37:g.236195856_236195856dupT	ENSP00000264187:p.Tyr461fs					NID1_ENST00000366595.3_Frame_Shift_Ins_p.C461fs	p.C461fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		6	1464_1465	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	461			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Frame_Shift_Ins	INS	ENST00000264187.6	37	c.1382_1383insA	CCDS1608.1																																																																																				0.545	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		25	86						25	86	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107052648	107052649	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:107052648_107052649insA	ENST00000409886.3	-	12	1775_1776	c.1688_1689insT	c.(1687-1689)ctafs	p.L563fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.L563fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	563					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTGGGCTCTTAGAGTGTTTAT	0.342																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(1687-1689)cagfs		RANBP2-like and GRIP domain containing 3																																				SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107052648_107052649insA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.1689dupT	2.37:g.107052649_107052649dupA	ENSP00000386588:p.Leu563fs					RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.Q563fs	p.Q563fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			12	1775_1776	-			563					B8ZZM4	Frame_Shift_Ins	INS	ENST00000409886.3	37	c.1688_1689insT	CCDS46379.1																																																																																				0.342	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		58	149						58	149	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10183805	10183809	+	Frame_Shift_Del	DEL	GACGG	GACGG	-	rs587780731|rs5030808		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:10183805_10183809delGACGG	ENST00000256474.2	+	1	1114_1118	c.274_278delGACGG	c.(274-279)gacggcfs	p.DG92fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.DG92fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	92			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G93fs*66(2)|p.G93R(2)|p.?_?ins?(1)|p.D92_G93>G(1)|p.D92fs*67(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.N90fs*67(1)|p.D92Y(1)|p.V84_E94>E(1)|p.D92fs*68(1)|p.D92fs*38(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)|p.D92N(1)|p.G93S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTCAACTTCGACGGCGAGCCGCAG	0.717		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		19	Deletion - Frameshift(8)|Substitution - Missense(5)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - frameshift(1)	p.G93fs*66(2)|p.G93R(2)|p.?_?ins?(1)|p.D92_G93>G(1)|p.D92fs*67(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.N90fs*67(1)|p.D92Y(1)|p.V84_E94>E(1)|p.D92fs*68(1)|p.D92fs*38(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)|p.D92N(1)|p.G93S(1)	kidney(17)|adrenal_gland(1)|soft_tissue(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CD941807|CM011824|CM020978|CM951279|CM961419	VHL	D|M	rs5030808	c.(274-279)cfs		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183805_10183809delGACGG	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.274_278delGACGG	3.37:g.10183805_10183809delGACGG	ENSP00000256474:p.Asp92fs					VHL_ENST00000345392.2_Frame_Shift_Del_p.DG92fs	p.DG92fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	1114_1118	+			92		Missing (in VHLD; type I).			B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	c.274_278delGACGG	CCDS2597.1																																																																																				0.717	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		5	11						5	11	---	---	---	---
RP11-371F15.3	0	broad.mit.edu	37	4	139786778	139786781	+	RNA	DEL	GGAA	GGAA	-	rs112477691|rs373908740		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr4:139786778_139786781delGGAA	ENST00000507038.1	-	0	158				RP11-371F15.3_ENST00000511951.1_RNA																							aaggaaagagggaaggaaggaagg	0.436																																						ENST00000507038.1																			0																																																			0							g.chr4:139786778_139786781delGGAA																													4.37:g.139786786_139786789delGGAA						RP11-371F15.3_ENST00000511951.1_RNA								0	158	-									RNA	DEL	ENST00000507038.1	37																																																																																						0.436	RP11-371F15.3-002	KNOWN	basic	antisense	antisense	OTTHUMT00000366073.1			3	6						3	6	---	---	---	---
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-	rs200675201		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313																																						ENST00000390184.1																			0																																																			0							g.chr7:88269891delT																													7.37:g.88269891delT														0	57	+									RNA	DEL	ENST00000390184.1	37																																																																																						0.313	AC006988.1-201	NOVEL	basic	miRNA	miRNA				5	9						5	9	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCA	rs112821450|rs143611048|rs79156963	byFrequency	TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:35906583_35906584insCCA	ENST00000354323.2	+	1	395_396	c.299_300insCCA	c.(298-303)ctccac>ctCCAccac	p.105_106insH	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.L100H(1)	NS(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-300)cca>cCCAca		histidine rich carboxyl terminus 1																																				SO:0001652	inframe_insertion	646962					integral to membrane		g.chr9:35906583_35906584insCCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.312_314dupCCA	9.37:g.35906590_35906592dupCCA	ENSP00000346283:p.His106_His107dup						p.100_101insT	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	395_396	+			100			His-rich.		B7ZBJ1	In_Frame_Ins	INS	ENST00000354323.2	37	c.299_300insCCA	CCDS35012.1																																																																																				0.668	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		7	41						7	41	---	---	---	---
PGM5P2	595135	broad.mit.edu	37	9	69128459	69128462	+	RNA	DEL	GAAA	GAAA	-	rs60552196|rs374169837		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:69128459_69128462delGAAA	ENST00000591037.1	-	0	430					NR_002836.2				phosphoglucomutase 5 pseudogene 2																		agaaaggaaggaaagaaagaaaga	0.377																																						ENST00000591037.1																			0																																																			595135							g.chr9:69128459_69128462delGAAA	BC007887, BC025351		9q12	2014-01-23			ENSG00000227558	ENSG00000277778			18965	pseudogene	pseudogene						12421752, 15233989	Standard	NR_002836		Approved		uc004aff.4		OTTHUMG00000013322		9.37:g.69128467_69128470delGAAA								NR_002836.2						0	430	-									RNA	DEL	ENST00000591037.1	37																																																																																						0.377	PGM5P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460890.1	NR_002836		5	5						5	5	---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102117531	102117531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:102117531delT	ENST00000229266.3	+	7	1206	c.971delT	c.(970-972)cttfs	p.L324fs	CHPT1_ENST00000549872.1_Frame_Shift_Del_p.L324fs	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	324					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GAACTATATCTTCAAGACACT	0.299																																						ENST00000549872.1																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(970-972)ctfs		choline phosphotransferase 1							82.0	81.0	82.0					12																	102117531		2201	4295	6496	SO:0001589	frameshift_variant	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102117531delT		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.971delT	12.37:g.102117531delT	ENSP00000229266:p.Leu324fs					CHPT1_ENST00000229266.3_Frame_Shift_Del_p.L324fs	p.L324fs			Q8WUD6	CHPT1_HUMAN			7	1161	+			324					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Frame_Shift_Del	DEL	ENST00000229266.3	37	c.971delT	CCDS9086.1																																																																																				0.299	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		35	41						35	41	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	3						4	3	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43590674	43590675	+	RNA	INS	-	-	A	rs373528477		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:43590674_43590675insA	ENST00000579913.1	-	0	1289				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		AACAAAAAAACAAAAAAAAAAC	0.332																																						ENST00000253803.2																			0																																																			55073							g.chr17:43590674_43590675insA	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43590684_43590684dupA						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.332	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		2	4						2	4	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538076	4538079	+	Frame_Shift_Del	DEL	AGGT	AGGT	-			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:4538076_4538079delAGGT	ENST00000306390.6	-	2	1377_1380	c.917_920delACCT	c.(916-921)aacctgfs	p.NL306fs	PLIN5_ENST00000586133.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank|LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	306	LRRCT.	Not glycosylated.			brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTCGCTCAGGTTCTGGTCACA	0.608																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(916-921)agfs		leucine-rich alpha-2-glycoprotein 1																																				SO:0001589	frameshift_variant	116844					extracellular region|membrane		g.chr19:4538076_4538079delAGGT		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.917_920delACCT	19.37:g.4538076_4538079delAGGT	ENSP00000302621:p.Asn306fs					CTB-50L17.14_ENST00000586020.1_Intron	p.NL306fs	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1377_1380	-		Hepatocellular(1079;0.137)	306			LRRCT.	Not glycosylated.	Q8N4F5|Q96QZ4	Frame_Shift_Del	DEL	ENST00000306390.6	37	c.917_920delACCT	CCDS12130.1																																																																																				0.608	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		47	104						47	104	---	---	---	---
