#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
FAT1	2195	broad.mit.edu	37	4	187540591	187540591	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:187540591G>A	ENST00000441802.2	-	10	7358	c.7149C>T	c.(7147-7149)ctC>ctT	p.L2383L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2383	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATTATCATTGAGGTCGGTAA	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7147-7149)ctC>ctT		FAT atypical cadherin 1							56.0	57.0	57.0					4																	187540591		2076	4213	6289	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540591G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7149C>T	4.37:g.187540591G>A		HNSCC(5;0.00058)					p.L2383L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7358	-			2383			Cadherin 21.			Silent	SNP	ENST00000441802.2	37	c.7149C>T	CCDS47177.1																																																																																				0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		18	44	0	0	0	1	0	18	44				
ITIH2	3698	broad.mit.edu	37	10	7745433	7745433	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:7745433T>A	ENST00000358415.4	+	1	202	c.36T>A	c.(34-36)ttT>ttA	p.F12L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	12					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTGCTTCTTTCTTTCTGAAG	0.428																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(34-36)ttT>ttA		inter-alpha-trypsin inhibitor heavy chain 2							141.0	131.0	135.0					10																	7745433		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7745433T>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.36T>A	10.37:g.7745433T>A	ENSP00000351190:p.Phe12Leu					ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L	p.F12L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			1	202	+			12					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.36T>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450594	0.26074	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.17691	4.94;2.26;4.9	5.66	0.101	0.14517	.	0.249082	0.41294	N	0.000917	T	0.06554	0.0168	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32268	-0.9913	10	0.10902	T	0.67	-4.8105	2.2496	0.04040	0.1163:0.2404:0.1192:0.5241	.	12	P19823	ITIH2_HUMAN	L	12	ENSP00000351190:F12L;ENSP00000388826:F12L;ENSP00000368906:F12L	ENSP00000351190:F12L	F	+	3	2	ITIH2	7785439	0.144000	0.22641	0.038000	0.18304	0.027000	0.11550	-0.100000	0.10990	0.366000	0.24427	0.533000	0.62120	TTT		0.428	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		37	95	0	0	0	1	0	37	95				
EPB41L3	23136	broad.mit.edu	37	18	5428394	5428394	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr18:5428394C>T	ENST00000341928.2	-	9	1323	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R328Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R328Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R328Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R328Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	328	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTGTTTATTCGCAGCCGGTC	0.418																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(982-984)cGa>cAa		erythrocyte membrane protein band 4.1-like 3							144.0	148.0	146.0					18																	5428394		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428394C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.983G>A	18.37:g.5428394C>T	ENSP00000343158:p.Arg328Gln					EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R328Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R328Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R328Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R328Q	p.R328Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1323	-			328			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.983G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.949500	0.97134	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.31	5.31	0.75309	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.993;1.0;1.0;0.983	D;P;D;D;P	0.79108	0.959;0.703;0.992;0.979;0.79	D	0.93072	0.6483	10	0.66056	D	0.02	.	18.973	0.92722	0.0:1.0:0.0:0.0	.	328;328;219;328;328	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	Q	328;219;328;219;328;328	ENSP00000343158:R328Q;ENSP00000441174:R328Q;ENSP00000341138:R328Q;ENSP00000382981:R328Q	ENSP00000343158:R328Q	R	-	2	0	EPB41L3	5418394	1.000000	0.71417	0.954000	0.39281	0.981000	0.71138	7.772000	0.85439	2.455000	0.83008	0.655000	0.94253	CGA		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		52	103	0	0	0	1	0	52	103				
CYP2A13	1553	broad.mit.edu	37	19	41595990	41595990	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:41595990C>T	ENST00000330436.3	+	3	382	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	128					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CAAGCAGCTCCGGCGCTTCTC	0.701																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(382-384)Cgg>Tgg		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						18.0	19.0	19.0					19																	41595990		2202	4296	6498	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41595990C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.382C>T	19.37:g.41595990C>T	ENSP00000332679:p.Arg128Trp						p.R128W	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			3	382	+			128					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.382C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	9.852	1.194046	0.22037	.	.	ENSG00000197838	ENST00000330436	T	0.06294	3.32	3.43	-6.85	0.01681	.	0.000000	0.85682	U	0.000000	T	0.32376	0.0827	H	0.96916	3.905	0.21697	N	0.999588	D	0.89917	1.0	D	0.87578	0.998	T	0.43734	-0.9373	10	0.87932	D	0	.	16.9995	0.86378	0.7368:0.2632:0.0:0.0	.	128	Q16696	CP2AD_HUMAN	W	128	ENSP00000332679:R128W	ENSP00000332679:R128W	R	+	1	2	CYP2A13	46287830	0.000000	0.05858	0.013000	0.15412	0.000000	0.00434	-2.575000	0.00910	-2.102000	0.00845	-4.920000	0.00002	CGG		0.701	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		3	23	0	0	0	1	0	3	23				
KCNB2	9312	broad.mit.edu	37	8	73849587	73849587	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr8:73849587C>T	ENST00000523207.1	+	3	2585	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGGATGGCACGCTGGAGTAT	0.562																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1996-1998)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							54.0	54.0	54.0					8																	73849587		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849587C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1997C>T	8.37:g.73849587C>T	ENSP00000430846:p.Thr666Met						p.T666M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2585	+	Breast(64;0.137)		666					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1997C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183592	0.01620	.	.	ENSG00000182674	ENST00000523207	T	0.25085	1.82	4.53	-0.951	0.10369	.	6.807010	0.01997	N	0.045941	T	0.23806	0.0576	L	0.48642	1.525	0.09310	N	1	P	0.40602	0.723	B	0.39660	0.306	T	0.12167	-1.0558	10	0.30078	T	0.28	.	5.3601	0.16083	0.1075:0.5522:0.2095:0.1308	.	666	Q92953	KCNB2_HUMAN	M	666	ENSP00000430846:T666M	ENSP00000430846:T666M	T	+	2	0	KCNB2	74012141	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.726000	0.25984	-0.703000	0.05049	-1.178000	0.01721	ACG		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		19	31	0	0	0	1	0	19	31				
PDZD2	23037	broad.mit.edu	37	5	32089032	32089032	+	Silent	SNP	T	T	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:32089032T>C	ENST00000438447.1	+	20	5866	c.5478T>C	c.(5476-5478)ccT>ccC	p.P1826P	PDZD2_ENST00000282493.3_Silent_p.P1826P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1826					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCTAATGCCTGCCAGAAGTC	0.468																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5476-5478)ccT>ccC		PDZ domain containing 2							109.0	114.0	112.0					5																	32089032		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089032T>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5478T>C	5.37:g.32089032T>C						PDZD2_ENST00000282493.3_Silent_p.P1826P	p.P1826P			O15018	PDZD2_HUMAN			20	5866	+			1826					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.5478T>C	CCDS34137.1																																																																																				0.468	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			29	46	0	0	0	1	0	29	46				
LRRN2	10446	broad.mit.edu	37	1	204589109	204589109	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:204589109G>A	ENST00000367175.1	-	1	2224	c.12C>T	c.(10-12)ctC>ctT	p.L4L	LRRN2_ENST00000367177.3_Silent_p.L4L|LRRN2_ENST00000367176.3_Silent_p.L4L|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	4					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTGGGGCCACGAGAAGCCTCA	0.617																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(10-12)ctC>ctT		leucine rich repeat neuronal 2							13.0	14.0	14.0					1																	204589109		2181	4282	6463	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204589109G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.12C>T	1.37:g.204589109G>A						LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Silent_p.L4L|LRRN2_ENST00000367177.3_Silent_p.L4L	p.L4L			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2224	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		4					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.12C>T	CCDS1448.1																																																																																				0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		3	5	0	0	0	1	0	3	5				
ADHFE1	137872	broad.mit.edu	37	8	67356974	67356974	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr8:67356974C>T	ENST00000396623.3	+	5	375	c.344C>T	c.(343-345)aCg>aTg	p.T115M	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	115					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.T67M(1)|p.T115M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GTGGAACCAACGGATTCAAGG	0.438																																						ENST00000396623.3																			2	Substitution - Missense(2)	p.T67M(1)|p.T115M(1)	endometrium(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(343-345)aCg>aTg		alcohol dehydrogenase, iron containing, 1							258.0	243.0	248.0					8																	67356974		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67356974C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.344C>T	8.37:g.67356974C>T	ENSP00000379865:p.Thr115Met					ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M	p.T115M	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		5	375	+		Lung NSC(129;0.197)	115					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.344C>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181662	0.78677	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.8	4.8	0.61643	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.79747	0.4499	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87609	0.2502	10	0.87932	D	0	.	17.8523	0.88751	0.0:1.0:0.0:0.0	.	115	Q8IWW8	HOT_HUMAN	M	50;115;115;67	ENSP00000428055:T50M;ENSP00000368695:T115M;ENSP00000379865:T115M;ENSP00000407115:T67M	ENSP00000368695:T115M	T	+	2	0	ADHFE1	67519528	1.000000	0.71417	0.303000	0.25071	0.068000	0.16541	5.458000	0.66679	2.228000	0.72767	0.591000	0.81541	ACG		0.438	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		4	195	0	0	0	1	0	4	195				
SEC24C	9632	broad.mit.edu	37	10	75519789	75519789	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:75519789G>A	ENST00000339365.2	+	6	657	c.495G>A	c.(493-495)tcG>tcA	p.S165S	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.S165S|SEC24C_ENST00000411652.2_Silent_p.S23S|SEC24C_ENST00000546025.1_Silent_p.S23S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	165					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CACCAACATCGCTGGCTTCAG	0.537																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(493-495)tcG>tcA		SEC24 family member C							95.0	88.0	91.0					10																	75519789		2199	4291	6490	SO:0001819	synonymous_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75519789G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.495G>A	10.37:g.75519789G>A						SEC24C_ENST00000345254.4_Silent_p.S165S|SEC24C_ENST00000546025.1_Silent_p.S23S|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.S23S	p.S165S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			6	657	+	Prostate(51;0.0112)		165					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.495G>A	CCDS7332.1																																																																																				0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			4	93	0	0	0	1	0	4	93				
PPP1R3A	5506	broad.mit.edu	37	7	113519779	113519779	+	Silent	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:113519779G>C	ENST00000284601.3	-	4	1436	c.1368C>G	c.(1366-1368)ccC>ccG	p.P456P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	456					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATCTGAAGAGGGGCAAGGTA	0.398																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1366-1368)ccC>ccG		protein phosphatase 1, regulatory subunit 3A							89.0	82.0	84.0					7																	113519779		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519779G>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1368C>G	7.37:g.113519779G>C							p.P456P	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1436	-			456					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1368C>G	CCDS5759.1																																																																																				0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		5	103	0	0	0	1	0	5	103				
ELF2	1998	broad.mit.edu	37	4	139980684	139980684	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:139980684G>C	ENST00000394235.2	-	10	1701	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*|ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCATTAACTGACTGAACTGC	0.433																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(1198-1200)tCa>tGa		E74-like factor 2 (ets domain transcription factor)							90.0	85.0	87.0					4																	139980684		2203	4300	6503	SO:0001587	stop_gained	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:139980684G>C	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1199C>G	4.37:g.139980684G>C	ENSP00000377782:p.Ser400*					ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*	p.S400*	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN			10	1701	-	all_hematologic(180;0.162)		412						Nonsense_Mutation	SNP	ENST00000394235.2	37	c.1199C>G	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566552	0.86439	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	.	.	.	5.6	5.6	0.85130	.	0.256048	0.40554	N	0.001069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6057	0.95580	0.0:0.0:1.0:0.0	.	.	.	.	X	352;400;412;400;323;215;340	.	.	S	-	2	0	ELF2	140200134	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	8.259000	0.89855	2.629000	0.89072	0.650000	0.86243	TCA		0.433	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		4	105	0	0	0	1	0	4	105				
MYH11	4629	broad.mit.edu	37	16	15808890	15808890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr16:15808890C>T	ENST00000300036.5	-	40	5771	c.5662G>A	c.(5662-5664)Gag>Aag	p.E1888K	NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.E1888K|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1895K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1888					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTCTGCCTCCTCCAGCTGC	0.667			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(5662-5664)Gag>Aag		myosin, heavy chain 11, smooth muscle							124.0	118.0	120.0					16																	15808890		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15808890C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5662G>A	16.37:g.15808890C>T	ENSP00000300036:p.Glu1888Lys					MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1888K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1888K|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1895K	p.E1888K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			40	5768	-			1888					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5662G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346841	0.95807	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.64	4.64	0.57946	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94125	0.8116	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.994	D;D;D;D;D	0.74674	0.984;0.984;0.984;0.984;0.973	D	0.95784	0.8819	10	0.87932	D	0	.	16.4871	0.84187	0.0:1.0:0.0:0.0	.	1895;1888;1895;1888;1895	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1888;1888;1895;1895;1895	ENSP00000300036:E1888K;ENSP00000345136:E1888K;ENSP00000379616:E1895K;ENSP00000407821:E1895K	ENSP00000300036:E1888K	E	-	1	0	MYH11	15716391	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.562000	0.82300	2.110000	0.64415	0.455000	0.32223	GAG		0.667	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		62	179	0	0	0	1	0	62	179				
APC	324	broad.mit.edu	37	5	112174658	112174658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:112174658C>T	ENST00000457016.1	+	16	3747	c.3367C>T	c.(3367-3369)Caa>Taa	p.Q1123*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1123*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1123*			P25054	APC_HUMAN	adenomatous polyposis coli	1123	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGAATTAATCAAAATGTAAG	0.403		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM011276	APC	M		c.(3367-3369)Caa>Taa		adenomatous polyposis coli							81.0	73.0	76.0					5																	112174658		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174658C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3367C>T	5.37:g.112174658C>T	ENSP00000413133:p.Gln1123*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.Q1123*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1123*	p.Q1123*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3747	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1123			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.3367C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.727967	0.97792	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	5.76	0.90799	.	0.190358	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-14.8121	13.2077	0.59807	0.0:0.9274:0.0:0.0726	.	.	.	.	X	1123;1105;1123;1123;1123	.	ENSP00000257430:Q1123X	Q	+	1	0	APC	112202557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.439000	0.52878	2.732000	0.93576	0.655000	0.94253	CAA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		15	22	0	0	0	1	0	15	22				
EGR1	1958	broad.mit.edu	37	5	137802637	137802637	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:137802637C>G	ENST00000239938.4	+	2	771	c.499C>G	c.(499-501)Cca>Gca	p.P167A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	167					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATGACCAACCCACCGGCCTC	0.652																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(499-501)Cca>Gca		early growth response 1							114.0	117.0	116.0					5																	137802637		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802637C>G	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.499C>G	5.37:g.137802637C>G	ENSP00000239938:p.Pro167Ala						p.P167A	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	771	+			167						Missense_Mutation	SNP	ENST00000239938.4	37	c.499C>G	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.046602	0.00398	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.23754	1.89	4.89	4.02	0.46733	.	0.114530	0.64402	D	0.000011	T	0.14098	0.0341	N	0.25485	0.75	0.36872	D	0.888947	B	0.02656	0.0	B	0.09377	0.004	T	0.11591	-1.0581	10	0.07030	T	0.85	-2.4788	8.3922	0.32535	0.0:0.6214:0.2881:0.0905	.	167	P18146	EGR1_HUMAN	A	167	ENSP00000239938:P167A	ENSP00000239938:P167A	P	+	1	0	EGR1	137830536	1.000000	0.71417	0.960000	0.40013	0.019000	0.09904	3.228000	0.51270	1.053000	0.40415	-0.379000	0.06801	CCA		0.652	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		48	74	0	0	0	1	0	48	74				
UBXN11	91544	broad.mit.edu	37	1	26608892	26608892	+	Silent	SNP	G	G	A	rs367932248|rs200210107		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:26608892G>A	ENST00000374222.1	-	16	1925	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	UBXN11_ENST00000314675.7_Silent_p.P367P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374223.1_Silent_p.P244P			Q5T124	UBX11_HUMAN	UBX domain protein 11	487	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gaccgggaccgggacagggac	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		11883	0.0		0.001	False		,,,				2504	0.0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1099-1101)ccC>ccT		UBX domain protein 11		G	,,	1,3703		0,1,1851	49.0	60.0	56.0		1101,1362,1461	0.6	0.0	1		56	4,8126		0,4,4061	no	coding-synonymous,coding-synonymous,coding-synonymous	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,,	0,5,5912	AA,AG,GG		0.0492,0.027,0.0423	,,	367/401,454/488,487/521	26608892	5,11829	1852	4065	5917	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26608892G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1461C>T	1.37:g.26608892G>A						UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374221.3_Silent_p.P487P	p.P367P	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1180	-			487					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.1101C>T	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		3	32	0	0	0	1	0	3	32				
N4BP2	55728	broad.mit.edu	37	4	40123039	40123039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:40123039C>A	ENST00000261435.6	+	9	3724	c.3308C>A	c.(3307-3309)tCa>tAa	p.S1103*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1103					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGATCCTTTTCATTAGAAGCC	0.348																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3307-3309)tCa>tAa		NEDD4 binding protein 2							68.0	74.0	72.0					4																	40123039		2202	4299	6501	SO:0001587	stop_gained	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123039C>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3308C>A	4.37:g.40123039C>A	ENSP00000261435:p.Ser1103*						p.S1103*	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	3724	+			1103					A0AVR3|Q9NVK2|Q9P2D4	Nonsense_Mutation	SNP	ENST00000261435.6	37	c.3308C>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.929252|6.929252	0.97944|0.97944	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	T|.	0.31769|.	1.48|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.235176	.|0.35495	.|N	.|0.003170	T|.	0.49592|.	0.1566|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38607|.	-0.9653|.	5|.	0.51188|0.02654	T|T	0.08|1	-6.8203|-6.8203	20.1931|20.1931	0.98233|0.98233	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	749|1103;1023	ENSP00000426430:F749L|.	ENSP00000426430:F749L|ENSP00000261435:S1103X	F|S	+|+	3|2	2|0	N4BP2|N4BP2	39799434|39799434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	5.369000|5.369000	0.66138|0.66138	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.348	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		18	39	1	0	7.21436e-19	1	7.76931e-19	18	39				
MARCO	8685	broad.mit.edu	37	2	119727707	119727707	+	Missense_Mutation	SNP	C	C	T	rs377491060		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:119727707C>T	ENST00000327097.4	+	3	352	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	73					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCTGCAGGCGCGGCTCCGGGT	0.547																																					GBM(8;18 374 7467 11269 32796)	ENST00000327097.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(217-219)Cgg>Tgg		macrophage receptor with collagenous structure		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	75.0	72.0		217	3.5	1.0	2		72	0,8600		0,0,4300	no	missense	MARCO	NM_006770.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	73/521	119727707	1,13005	2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119727707C>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.217C>T	2.37:g.119727707C>T	ENSP00000318916:p.Arg73Trp					MARCO_ENST00000541757.1_5'UTR	p.R73W	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN			3	352	+			73					B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.217C>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578018	0.28180	2.27E-4	0.0	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.90955	-2.76	4.43	3.53	0.40419	.	0.593254	0.15121	N	0.279406	D	0.90099	0.6907	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	D	0.86873	0.2037	9	.	.	.	.	9.7722	0.40595	0.2052:0.7948:0.0:0.0	.	73	Q9UEW3	MARCO_HUMAN	W	73	ENSP00000318916:R73W	.	R	+	1	2	MARCO	119444177	0.733000	0.28132	0.998000	0.56505	0.824000	0.46624	0.892000	0.28322	1.425000	0.47237	0.561000	0.74099	CGG		0.547	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		17	37	0	0	0	1	0	17	37				
KIAA1147	57189	broad.mit.edu	37	7	141385300	141385300	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:141385300G>C	ENST00000536163.1	-	3	504	c.505C>G	c.(505-507)Cac>Gac	p.H169D	KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	169										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TCCAAGAAGTGCATGTAGCGG	0.592																																						ENST00000536163.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(505-507)Cac>Gac		KIAA1147							158.0	163.0	161.0					7																	141385300		2165	4262	6427	SO:0001583	missense	57189							g.chr7:141385300G>C	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.505C>G	7.37:g.141385300G>C	ENSP00000445768:p.His169Asp					KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D	p.H169D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN			3	504	-	Melanoma(164;0.0171)		169					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.505C>G	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	G	8.352	0.831039	0.16820	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.39898	1.24	0.58432	D	0.999999	B	0.14438	0.01	B	0.19391	0.025	T	0.48736	-0.9009	9	0.10902	T	0.67	-30.7111	16.5356	0.84372	0.0:0.0:1.0:0.0	.	169	A4D1U4	LCHN_HUMAN	D	169;78	.	ENSP00000297761:H169D	H	-	1	0	KIAA1147	141031769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.412000	0.90232	2.329000	0.79093	0.591000	0.81541	CAC		0.592	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			51	77	0	0	0	1	0	51	77				
OTX1	5013	broad.mit.edu	37	2	63282953	63282953	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:63282953G>A	ENST00000282549.2	+	5	843	c.567G>A	c.(565-567)gcG>gcA	p.A189A	OTX1_ENST00000366671.3_Silent_p.A189A	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	189					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAGCGCCCGCGTCCGTGTCGG	0.682																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(565-567)gcG>gcA		orthodenticle homeobox 1							13.0	15.0	14.0					2																	63282953		2190	4285	6475	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282953G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.567G>A	2.37:g.63282953G>A						OTX1_ENST00000366671.3_Silent_p.A189A	p.A189A	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	843	+	Lung NSC(7;0.121)|all_lung(7;0.211)		189					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.567G>A	CCDS1873.1																																																																																				0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			7	11	0	0	0	1	0	7	11				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	33	0	0	0	1	0	3	33				
EPB42	2038	broad.mit.edu	37	15	43500934	43500934	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr15:43500934G>A	ENST00000441366.2	-	7	1097	c.872C>T	c.(871-873)aCg>aTg	p.T291M	EPB42_ENST00000300215.3_Missense_Mutation_p.T321M|EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000540029.1_Missense_Mutation_p.T213M	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	291					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGAGGCAAACGTGGTCACCAC	0.612																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(961-963)aCg>aTg		erythrocyte membrane protein band 4.2							69.0	71.0	70.0					15																	43500934		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43500934G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.872C>T	15.37:g.43500934G>A	ENSP00000396616:p.Thr291Met					EPB42_ENST00000540029.1_Missense_Mutation_p.T213M|EPB42_ENST00000441366.2_Missense_Mutation_p.T291M	p.T321M			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	7	1419	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	291					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.962C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	7.565	0.665570	0.14710	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.52295	0.67;0.67;0.67	5.15	2.88	0.33553	Transglutaminase-like (2);	0.269168	0.41396	N	0.000899	T	0.37732	0.1014	M	0.65975	2.015	0.21290	N	0.99974	P;P;P;P	0.45212	0.789;0.853;0.823;0.853	B;B;B;B	0.37198	0.116;0.243;0.11;0.243	T	0.47471	-0.9115	10	0.87932	D	0	-5.4873	3.7516	0.08569	0.2152:0.0:0.5964:0.1885	.	213;291;321;291	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	M	321;213;291;291	ENSP00000300215:T321M;ENSP00000444699:T213M;ENSP00000396616:T291M	ENSP00000300215:T321M	T	-	2	0	EPB42	41288226	0.508000	0.26154	0.208000	0.23602	0.047000	0.14425	0.755000	0.26405	1.238000	0.43771	0.561000	0.74099	ACG		0.612	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		31	54	0	0	0	1	0	31	54				
KDELR3	11015	broad.mit.edu	37	22	38881961	38881961	+	IGR	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr22:38881961A>G	ENST00000216014.4	+	0	1728				DDX17_ENST00000381633.3_Silent_p.P646P|DDX17_ENST00000444597.1_Silent_p.P175P|DDX17_ENST00000396821.3_Silent_p.P725P	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					Aaggaggaggagggggaggag	0.473																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2173-2175)ccT>ccC		DEAD (Asp-Glu-Ala-Asp) box helicase 17							115.0	107.0	110.0					22																	38881961		2203	4300	6503	SO:0001628	intergenic_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38881961A>G	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881961A>G						DDX17_ENST00000444597.1_Silent_p.P175P|DDX17_ENST00000381633.3_Silent_p.P646P	p.P725P	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			13	2274	-	Melanoma(58;0.0286)		644					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	ENST00000216014.4	37	c.2175T>C	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	A	0.950	-0.706751	0.03230	.	.	ENSG00000100201	ENST00000404499	.	.	.	5.26	-7.23	0.01480	.	.	.	.	.	T	0.33789	0.0875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	-6.8524	1.3423	0.02157	0.3598:0.0885:0.2865:0.2652	.	.	.	.	P	716	.	.	L	-	2	0	DDX17	37211907	0.707000	0.27866	0.227000	0.23927	0.389000	0.30415	-0.308000	0.08156	-0.565000	0.06061	-0.384000	0.06662	CTC		0.473	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			3	51	0	0	0	1	0	3	51				
SMC2	10592	broad.mit.edu	37	9	106876995	106876995	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr9:106876995G>C	ENST00000286398.7	+	13	1844	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T	SMC2_ENST00000374787.3_Missense_Mutation_p.R519T|SMC2_ENST00000374793.3_Missense_Mutation_p.R519T|SMC2_ENST00000303219.8_Missense_Mutation_p.R519T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	519	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACTGGAATAGAAATTGTGTG	0.358																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1555-1557)aGa>aCa		structural maintenance of chromosomes 2							106.0	105.0	105.0					9																	106876995		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106876995G>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1556G>C	9.37:g.106876995G>C	ENSP00000286398:p.Arg519Thr					SMC2_ENST00000374793.3_Missense_Mutation_p.R519T|SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374787.3_Missense_Mutation_p.R519T	p.R519T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			13	1844	+			519			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1556G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141567	0.37825	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.45	4.56	0.56223	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.298027	0.37012	N	0.002296	D	0.86732	0.6003	M	0.87269	2.87	0.41468	D	0.98808	B;B	0.34103	0.437;0.262	B;B	0.39094	0.29;0.151	D	0.86502	0.1804	10	0.54805	T	0.06	-15.9845	7.9296	0.29895	0.0838:0.2542:0.6619:0.0	.	519;519	O95347;Q2KQ72	SMC2_HUMAN;.	T	519	ENSP00000286398:R519T;ENSP00000363925:R519T;ENSP00000306152:R519T;ENSP00000363919:R519T	ENSP00000286398:R519T	R	+	2	0	SMC2	105916816	0.978000	0.34361	1.000000	0.80357	0.998000	0.95712	3.077000	0.50089	1.542000	0.49330	0.655000	0.94253	AGA		0.358	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			26	54	0	0	0	1	0	26	54				
PDE9A	5152	broad.mit.edu	37	21	44190855	44190855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr21:44190855G>T	ENST00000291539.6	+	18	1693	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	545	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GCCACTTTGGGAATCCCGAGA	0.527																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1633-1635)Gaa>Taa		phosphodiesterase 9A							140.0	113.0	122.0					21																	44190855		2203	4300	6503	SO:0001587	stop_gained	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44190855G>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1633G>T	21.37:g.44190855G>T	ENSP00000291539:p.Glu545*					PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*	p.E545*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			18	1693	+			545			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Nonsense_Mutation	SNP	ENST00000291539.6	37	c.1633G>T	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273779	0.80580	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	.	.	.	4.64	3.73	0.42828	.	0.159596	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	13.5942	0.61979	0.0807:0.0:0.9193:0.0	.	.	.	.	X	485;417;545;492;478;444;459;519;443;504;411;385;417;418	.	ENSP00000291539:E545X	E	+	1	0	PDE9A	43063924	1.000000	0.71417	0.984000	0.44739	0.025000	0.11179	6.169000	0.71913	2.301000	0.77427	0.557000	0.71058	GAA		0.527	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			21	6	1	0	1.50039e-11	1	1.55596e-11	21	6				
SMG7	9887	broad.mit.edu	37	1	183514379	183514379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:183514379C>T	ENST00000347615.2	+	16	2421	c.2302C>T	c.(2302-2304)Caa>Taa	p.Q768*	SMG7_ENST00000367537.3_Nonsense_Mutation_p.Q751*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	768	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACTCAGCAACAACAATCCCC	0.512																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2251-2253)Caa>Taa		SMG7 nonsense mediated mRNA decay factor							127.0	133.0	131.0					1																	183514379		2203	4300	6503	SO:0001587	stop_gained	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183514379C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2302C>T	1.37:g.183514379C>T	ENSP00000340766:p.Gln768*					SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.Q768*	p.Q751*			Q92540	SMG7_HUMAN			17	2446	+			768			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Nonsense_Mutation	SNP	ENST00000347615.2	37	c.2251C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	38	6.867259	0.97897	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.69	5.69	0.88448	.	0.260319	0.38164	N	0.001787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-10.4124	19.8045	0.96525	0.0:1.0:0.0:0.0	.	.	.	.	X	680;751;726;680;768;722;722	.	ENSP00000340766:Q768X	Q	+	1	0	SMG7	181781002	1.000000	0.71417	0.951000	0.38953	0.808000	0.45660	6.348000	0.73009	2.676000	0.91093	0.655000	0.94253	CAA		0.512	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	74	0	0	0	1	0	4	74				
NKAP	79576	broad.mit.edu	37	X	119077407	119077407	+	Silent	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chrX:119077407A>G	ENST00000371410.3	-	1	328	c.162T>C	c.(160-162)aaT>aaC	p.N54N		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	54	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGGTGAGTCCATTCCGGTCCC	0.682																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(160-162)aaT>aaC		NFKB activating protein							32.0	34.0	33.0					X																	119077407		2202	4293	6495	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077407A>G	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.162T>C	X.37:g.119077407A>G							p.N54N	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			1	328	-			54			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.162T>C	CCDS14592.1																																																																																				0.682	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		5	1	0	0	0	1	0	5	1				
MLPH	79083	broad.mit.edu	37	2	238402143	238402143	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:238402143A>T	ENST00000264605.3	+	2	368	c.74A>T	c.(73-75)gAt>gTt	p.D25V	MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000338530.4_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	25	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTTCAACGAGATTTTGACCTC	0.542																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(73-75)gAt>gTt		melanophilin							163.0	158.0	160.0					2																	238402143		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238402143A>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.74A>T	2.37:g.238402143A>T	ENSP00000264605:p.Asp25Val					MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V|MLPH_ENST00000338530.4_Missense_Mutation_p.D25V	p.D25V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	2	368	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	25			RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.74A>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.817438	0.70912	.	.	ENSG00000115648	ENST00000422695;ENST00000429898;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.05	5.05	0.67936	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92908	0.6345	10	0.87932	D	0	-34.7271	11.1979	0.48724	1.0:0.0:0.0:0.0	.	25;25;25;25;25	B4DKW7;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;MELPH_HUMAN;.	V	25	ENSP00000409170:D25V;ENSP00000403909:D25V;ENSP00000386338:D25V;ENSP00000264605:D25V;ENSP00000414849:D25V;ENSP00000341845:D25V;ENSP00000386780:D25V	ENSP00000264605:D25V	D	+	2	0	MLPH	238066882	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.680000	0.84062	1.900000	0.55004	0.472000	0.43445	GAT		0.542	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		22	74	0	0	0	1	0	22	74				
TRAP1	10131	broad.mit.edu	37	16	3713497	3713497	+	Missense_Mutation	SNP	T	T	G	rs143144399	byFrequency	TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr16:3713497T>G	ENST00000246957.5	-	14	1724	c.1636A>C	c.(1636-1638)Aag>Cag	p.K546Q	TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q|TRAP1_ENST00000575671.1_Missense_Mutation_p.K337Q|DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000573872.1_5'Flank	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	546					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GAGATCAGCTTCTTCTTGTCA	0.552													T|||	2	0.000399361	0.0	0.0	5008	,	,		19766	0.002		0.0	False		,,,				2504	0.0					ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1009-1011)Aag>Cag		TNF receptor-associated protein 1		T	GLN/LYS	1,4393	2.1+/-5.4	0,1,2196	139.0	128.0	132.0		1636	2.3	1.0	16	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRAP1	NM_016292.2	53	0,2,6495	GG,GT,TT		0.0116,0.0228,0.0154	benign	546/705	3713497	2,12992	2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3713497T>G	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1636A>C	16.37:g.3713497T>G	ENSP00000246957:p.Lys546Gln					TRAP1_ENST00000246957.5_Missense_Mutation_p.K546Q|DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q|DNASE1_ENST00000414110.2_3'UTR	p.K337Q			Q12931	TRAP1_HUMAN			9	1738	-		Ovarian(90;0.0261)	546					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.1009A>C	CCDS10508.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	5.083	0.200915	0.09652	2.28E-4	1.16E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.11930	2.73;2.73	5.83	2.28	0.28536	Ribosomal protein S5 domain 2-type fold (1);	0.161204	0.56097	N	0.000039	T	0.08980	0.0222	L	0.35341	1.055	0.58432	D	0.999997	B;B	0.12630	0.004;0.006	B;B	0.18871	0.013;0.023	T	0.27673	-1.0067	10	0.08381	T	0.77	-36.1249	9.6988	0.40173	0.0:0.0625:0.2228:0.7148	.	493;546	F5H897;Q12931	.;TRAP1_HUMAN	Q	546;493	ENSP00000246957:K546Q;ENSP00000442070:K493Q	ENSP00000246957:K546Q	K	-	1	0	TRAP1	3653498	1.000000	0.71417	0.997000	0.53966	0.020000	0.10135	3.939000	0.56591	-0.116000	0.11893	-3.431000	0.00037	AAG		0.552	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		22	53	0	0	0	1	0	22	53				
CHRNA9	55584	broad.mit.edu	37	4	40351353	40351353	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:40351353A>G	ENST00000310169.2	+	4	959	c.820A>G	c.(820-822)Acc>Gcc	p.T274A		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	274					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	CCTGGGAGTGACCATCCTGTT	0.507																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(820-822)Acc>Gcc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						131.0	139.0	136.0					4																	40351353		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351353A>G	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.820A>G	4.37:g.40351353A>G	ENSP00000312663:p.Thr274Ala						p.T274A	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	959	+			274					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.820A>G	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056222	0.76074	.	.	ENSG00000174343	ENST00000310169	D	0.90261	-2.64	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96515	0.9381	10	0.87932	D	0	.	15.6992	0.77528	1.0:0.0:0.0:0.0	.	274	Q9UGM1	ACHA9_HUMAN	A	274	ENSP00000312663:T274A	ENSP00000312663:T274A	T	+	1	0	CHRNA9	40046110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.327000	0.79147	2.122000	0.65172	0.459000	0.35465	ACC		0.507	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			84	151	0	0	0	1	0	84	151				
DNASE2	1777	broad.mit.edu	37	19	12986907	12986907	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:12986907C>A	ENST00000222219.3	-	6	1072	c.980G>T	c.(979-981)tGt>tTt	p.C327F	DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	327					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAGCTGGGCACACAGTGTGCC	0.602																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(979-981)tGt>tTt		deoxyribonuclease II, lysosomal							56.0	54.0	54.0					19																	12986907		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12986907C>A	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.980G>T	19.37:g.12986907C>A	ENSP00000222219:p.Cys327Phe					DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F	p.C327F	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			6	1072	-			327					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.980G>T	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923879	0.73213	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.26518	1.73;1.73	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73525	-0.3955	10	0.87932	D	0	.	15.772	0.78176	0.0:1.0:0.0:0.0	.	272;327	B7Z4K6;O00115	.;DNS2A_HUMAN	F	327;272	ENSP00000222219:C327F;ENSP00000445988:C272F	ENSP00000222219:C327F	C	-	2	0	DNASE2	12847907	1.000000	0.71417	0.838000	0.33150	0.961000	0.63080	6.472000	0.73567	2.327000	0.79052	0.462000	0.41574	TGT		0.602	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			37	59	1	0	4.62619e-21	1	5.07974e-21	37	59				
ARHGAP33	115703	broad.mit.edu	37	19	36278974	36278974	+	Silent	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:36278974C>T	ENST00000007510.4	+	21	3651	c.3507C>T	c.(3505-3507)taC>taT	p.Y1169Y	ARHGAP33_ENST00000378944.5_Silent_p.Y1005Y|ARHGAP33_ENST00000314737.5_Silent_p.Y1008Y|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1169					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGCCCCTCTACGTCAACCTAG	0.682																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3505-3507)taC>taT		Rho GTPase activating protein 33							33.0	35.0	34.0					19																	36278974		2200	4298	6498	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278974C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3507C>T	19.37:g.36278974C>T						ARHGAP33_ENST00000314737.5_Silent_p.Y1008Y|ARHGAP33_ENST00000378944.5_Silent_p.Y1005Y	p.Y1169Y			O14559	RHG33_HUMAN			21	3651	+			1169					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3507C>T																																																																																					0.682	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		22	42	0	0	0	1	0	22	42				
AC002472.1	0	broad.mit.edu	37	22	21363573	21363573	+	5'Flank	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr22:21363573G>A	ENST00000547793.2	-	0	0				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA																							GTAGGGCTCCGTCATGGCCAT	0.552																																						ENST00000452284.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr22:21363573G>A																													22.37:g.21363573G>A	Exception_encountered					THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA		NR_027051.1						0	1240	+									RNA	SNP	ENST00000547793.2	37																																																																																						0.552	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				10	47	0	0	0	1	0	10	47				
NUP133	55746	broad.mit.edu	37	1	229580721	229580721	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:229580721G>A	ENST00000261396.3	-	25	3365	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S	NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1092					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACTTCAATTGGATCATCTTTG	0.318																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3274-3276)Cca>Tca		nucleoporin 133kDa							129.0	140.0	136.0					1																	229580721		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229580721G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3274C>T	1.37:g.229580721G>A	ENSP00000261396:p.Pro1092Ser					NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S|NUP133_ENST00000366679.1_Missense_Mutation_p.P1021S	p.P1092S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			25	3365	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1092					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.3274C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396842	0.83120	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.36157	1.27;1.35;1.29	5.79	5.79	0.91817	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50363	-0.8837	10	0.08381	T	0.77	-1.992	18.204	0.89848	0.0:0.0:1.0:0.0	.	1092	Q8WUM0	NU133_HUMAN	S	1021;1092;1021;1076	ENSP00000261396:P1092S;ENSP00000355640:P1021S;ENSP00000443496:P1076S	ENSP00000261396:P1092S	P	-	1	0	NUP133	227647344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.659000	0.91116	2.727000	0.93392	0.563000	0.77884	CCA		0.318	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		31	98	0	0	0	1	0	31	98				
PCDHA7	56141	broad.mit.edu	37	5	140215504	140215504	+	Silent	SNP	G	G	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:140215504G>T	ENST00000525929.1	+	1	1536	c.1536G>T	c.(1534-1536)gcG>gcT	p.A512A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCACGCGGAGAGCGGCA	0.701																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1534-1536)gcG>gcT									68.0	73.0	72.0					5																	140215504		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140215504G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1536G>T	5.37:g.140215504G>T						PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A512A	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1536	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1536G>T	CCDS54918.1																																																																																				0.701	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		61	101	1	0	9.40535e-28	1	1.0534e-27	61	101				
GTF3C6	112495	broad.mit.edu	37	6	111288987	111288987	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:111288987G>A	ENST00000329970.7	+	6	846	c.636G>A	c.(634-636)ctG>ctA	p.L212L	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	212					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		CTCAAATGCTGCCTTAGAAAT	0.338																																						ENST00000329970.7																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(634-636)ctG>ctA		general transcription factor IIIC, polypeptide 6, alpha 35kDa							76.0	79.0	78.0					6																	111288987		2203	4299	6502	SO:0001819	synonymous_variant	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111288987G>A	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.636G>A	6.37:g.111288987G>A						GTF3C6_ENST00000480191.1_3'UTR	p.L212L	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	6	846	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)	212					Q5VXN2	Silent	SNP	ENST00000329970.7	37	c.636G>A	CCDS5087.1																																																																																				0.338	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408		3	29	0	0	0	1	0	3	29				
KALRN	8997	broad.mit.edu	37	3	123988044	123988044	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr3:123988044G>A	ENST00000240874.3	+	5	1062	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KALRN_ENST00000360013.3_Missense_Mutation_p.R302H|KALRN_ENST00000460856.1_Missense_Mutation_p.R302H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	302					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGCATGTGCGCAAGCTCAAG	0.612																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(904-906)cGc>cAc		kalirin, RhoGEF kinase							39.0	40.0	40.0					3																	123988044		2202	4299	6501	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123988044G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.905G>A	3.37:g.123988044G>A	ENSP00000240874:p.Arg302His					KALRN_ENST00000240874.3_Missense_Mutation_p.R302H|KALRN_ENST00000460856.1_Missense_Mutation_p.R302H	p.R302H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			5	1032	+			302					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.905G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.041694|5.041694	0.93685|0.93685	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.76060	.|-0.99;-0.99;-0.99	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84284|0.84284	0.5438|0.5438	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.76494	.|0.902;0.999;0.941	.|B;D;P	.|0.76071	.|0.291;0.987;0.485	T|T	0.79303|0.79303	-0.1859|-0.1859	5|10	.|0.18276	.|T	.|0.48	.|.	19.1899|19.1899	0.93660|0.93660	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|302;302;302	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|H	280|302	.|ENSP00000418611:R302H;ENSP00000240874:R302H;ENSP00000353109:R302H	.|ENSP00000240874:R302H	A|R	+|+	1|2	0|0	KALRN|KALRN	125470734|125470734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.657000|9.657000	0.98554|0.98554	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.612	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		3	51	0	0	0	1	0	3	51				
FAM178A	55719	broad.mit.edu	37	10	102684014	102684014	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:102684014C>G	ENST00000238961.4	+	5	1798	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	419						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGCCACCATTCTACCAGGAAT	0.443																																						ENST00000238961.3																			0											c.(1255-1257)tCt>tGt		family with sequence similarity 178, member A							122.0	125.0	124.0					10																	102684014		2203	4300	6503	SO:0001583	missense	0							g.chr10:102684014C>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1256C>G	10.37:g.102684014C>G	ENSP00000238961:p.Ser419Cys					FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C	p.S419C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1404	+			419					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1256C>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528932	0.44969	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.53206	0.63;1.3;1.29	5.1	3.22	0.36961	.	0.306936	0.24481	N	0.038143	T	0.42607	0.1210	N	0.24115	0.695	0.33250	D	0.558348	D;D;D;D	0.61697	0.99;0.969;0.969;0.99	P;P;P;P	0.56474	0.799;0.639;0.639;0.799	T	0.54761	-0.8245	10	0.56958	D	0.05	-5.8774	5.8112	0.18467	0.193:0.7115:0.0:0.0955	.	68;419;419;419	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	419	ENSP00000359294:S419C;ENSP00000238961:S419C;ENSP00000359292:S419C	ENSP00000238961:S419C	S	+	2	0	FAM178A	102674004	0.982000	0.34865	1.000000	0.80357	0.985000	0.73830	0.836000	0.27545	1.504000	0.48704	0.650000	0.86243	TCT		0.443	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			48	65	0	0	0	1	0	48	65				
ASH1L	55870	broad.mit.edu	37	1	155429593	155429593	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:155429593G>C	ENST00000368346.3	-	4	5720	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1694	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTAGCCTGTTGAAGAAGTACT	0.423																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5080-5082)tCa>tGa		ash1 (absent, small, or homeotic)-like (Drosophila)							76.0	73.0	74.0					1																	155429593		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155429593G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5081C>G	1.37:g.155429593G>C	ENSP00000357330:p.Ser1694*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694*	p.S1694*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		4	5720	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1694			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.5081C>G		.	.	.	.	.	.	.	.	.	.	G	49	15.387945	0.99832	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	4.19	4.19	0.49359	.	0.503837	0.19787	N	0.106094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.4894	0.67639	0.0:0.0:1.0:0.0	.	.	.	.	X	1694	.	ENSP00000357330:S1694X	S	-	2	0	ASH1L	153696217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.344000	0.65981	2.175000	0.68902	0.591000	0.81541	TCA		0.423	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	16	0	0	0	1	0	7	16				
TRDC	28526	broad.mit.edu	37	14	22933250	22933250	+	RNA	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr14:22933250G>C	ENST00000390477.2	+	0	400				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											CTTGGGCTACGAATGCTGTTT	0.433																																						ENST00000514473.2																			0																				83.0	83.0	83.0					14																	22933250		1887	4117	6004			0							g.chr14:22933250G>C	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22933250G>C						AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA								0	225	-									RNA	SNP	ENST00000390477.2	37																																																																																						0.433	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		12	41	0	0	0	1	0	12	41				
PPP1R13B	23368	broad.mit.edu	37	14	104212714	104212714	+	Silent	SNP	T	T	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr14:104212714T>C	ENST00000202556.9	-	9	1428	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	PPP1R13B_ENST00000555391.1_5'Flank|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	382					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACTCACCGGATTTGGATCTTC	0.607																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(1144-1146)aaA>aaG		protein phosphatase 1, regulatory subunit 13B							56.0	63.0	61.0					14																	104212714		1895	4110	6005	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104212714T>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1146A>G	14.37:g.104212714T>C						PPP1R13B_ENST00000423488.2_5'UTR	p.K382K	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			9	1428	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	382					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.1146A>G	CCDS41997.1																																																																																				0.607	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		15	17	0	0	0	1	0	15	17				
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	G	rs193920894		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr17:47696643A>G	ENST00000393328.2	-	5	670	c.305T>C	c.(304-306)tTc>tCc	p.F102S	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S|SPOP_ENST00000504102.1_Missense_Mutation_p.F102S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tCc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>C	17.37:g.47696643A>G	ENSP00000377001:p.Phe102Ser	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F102S|SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S	p.F102S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706704	0.89018	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86271	0.1661	10	0.87932	D	0	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	S	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102S;ENSP00000377004:F102S;ENSP00000240327:F102S;ENSP00000425905:F102S;ENSP00000420908:F102S;ENSP00000426986:F102S;ENSP00000420960:F102S;ENSP00000426262:F102S;ENSP00000424119:F102S;ENSP00000426537:F102S	ENSP00000240327:F102S	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		55	72	0	0	0	1	0	55	72				
SLC38A3	10991	broad.mit.edu	37	3	50255182	50255182	+	RNA	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr3:50255182C>T	ENST00000420502.1	+	0	918									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		ACTTCAGCCACGTGGAGATCG	0.572																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						65.0	67.0	66.0					3																	50255182		2049	4182	6231			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255182C>T	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255182C>T										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	918	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.572	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		17	31	0	0	0	1	0	17	31				
TIAM2	26230	broad.mit.edu	37	6	155565186	155565186	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:155565186G>C	ENST00000461783.3	+	19	4663	c.3390G>C	c.(3388-3390)caG>caC	p.Q1130H	TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1130	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCACTTCAGAATGAGACCT	0.398																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3388-3390)caG>caC		T-cell lymphoma invasion and metastasis 2							160.0	150.0	153.0					6																	155565186		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155565186G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3390G>C	6.37:g.155565186G>C	ENSP00000437188:p.Gln1130His					TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H	p.Q1130H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	19	4663	+		Ovarian(120;0.196)	1130			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3390G>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947910	0.73787	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.29	-2.21	0.06973	Dbl homology (DH) domain (5);	0.057473	0.64402	D	0.000001	T	0.68137	0.2968	M	0.78223	2.4	0.40603	D	0.981608	P;D;D;D	0.89917	0.873;1.0;1.0;0.994	P;D;D;D	0.91635	0.749;0.999;0.997;0.992	T	0.73553	-0.3946	10	0.56958	D	0.05	.	13.689	0.62533	0.3879:0.0:0.6121:0.0	.	466;1130;1154;1130	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1130;1376;1130;1130;1130;506;1154;1130;442;466;55;68	ENSP00000437188:Q1130H;ENSP00000434901:Q1130H;ENSP00000407746:Q1130H;ENSP00000327315:Q1130H;ENSP00000356142:Q506H;ENSP00000353528:Q1154H;ENSP00000433348:Q1130H;ENSP00000407183:Q442H;ENSP00000435335:Q466H;ENSP00000275246:Q55H;ENSP00000431269:Q68H	ENSP00000275246:Q55H	Q	+	3	2	TIAM2	155606878	0.987000	0.35691	0.895000	0.35142	0.993000	0.82548	0.209000	0.17435	-0.540000	0.06265	0.561000	0.74099	CAG		0.398	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		39	65	0	0	0	1	0	39	65				
ALPK2	115701	broad.mit.edu	37	18	56246451	56246451	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr18:56246451T>A	ENST00000361673.3	-	4	1770	c.1557A>T	c.(1555-1557)agA>agT	p.R519S	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	519						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCCCCCCACTCTCTTGTCAG	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1555-1557)agA>agT		alpha-kinase 2							217.0	217.0	217.0					18																	56246451		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246451T>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1557A>T	18.37:g.56246451T>A	ENSP00000354991:p.Arg519Ser		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.R519S	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1770	-			519					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1557A>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	15.45	2.838266	0.51057	.	.	ENSG00000198796	ENST00000361673	T	0.52057	0.68	5.14	1.03	0.20045	.	1.544590	0.04399	N	0.363947	T	0.35913	0.0948	L	0.41824	1.3	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.20571	-1.0271	10	0.37606	T	0.19	-1.5845	1.1691	0.01822	0.1869:0.1819:0.1178:0.5134	.	519	Q86TB3	ALPK2_HUMAN	S	519	ENSP00000354991:R519S	ENSP00000354991:R519S	R	-	3	2	ALPK2	54397431	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.025000	0.12413	0.277000	0.22141	0.533000	0.62120	AGA		0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		48	105	0	0	0	1	0	48	105				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	4						3	4	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		5	5						5	5	---	---	---	---
RFPL4B	442247	broad.mit.edu	37	6	112671567	112671568	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:112671567_112671568insT	ENST00000441065.2	+	3	969_970	c.657_658insT	c.(658-660)tttfs	p.F220fs	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	220	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGAAATCCAGTTTTTTGATGT	0.455																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(655-660)cattttfs		ret finger protein-like 4B																																				SO:0001589	frameshift_variant	442247						zinc ion binding	g.chr6:112671567_112671568insT	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.663dupT	6.37:g.112671573_112671573dupT	ENSP00000423391:p.Phe220fs						p.HF219fs	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	969_970	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	219			B30.2/SPRY.		A2RU91	Frame_Shift_Ins	INS	ENST00000441065.2	37	c.657_658insT	CCDS34515.1																																																																																				0.455	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		17	25						17	25	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		3	4						3	4	---	---	---	---
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-	rs369065333|rs146925843|rs377067235		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115									T cell receptor beta variable 6-5																		CCTGCAGAGAAGGAGAACAAAGC	0.557																																						ENST00000390368.2																			0																																																			0							g.chr7:142180819_142180821delAGG	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180819_142180821delAGG														0	115	-									RNA	DEL	ENST00000390368.2	37																																																																																						0.557	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		8	90						8	90	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104309224	104309225	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr9:104309224_104309225delAC	ENST00000389120.3	+	7	960_961	c.870_871delAC	c.(868-873)cgacacfs	p.H291fs	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	291					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GACTCAACCGACACTTAGCAGA	0.48																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(868-873)cgacfs		ring finger protein 20, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104309224_104309225delAC	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.870_871delAC	9.37:g.104309226_104309227delAC	ENSP00000373772:p.His291fs						p.RH290fs	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	7	960_961	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	290					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Frame_Shift_Del	DEL	ENST00000389120.3	37	c.870_871delAC	CCDS35084.1																																																																																				0.480	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		31	25						31	25	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		8	170						8	170	---	---	---	---
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																						ENST00000408133.1																			0																																																			0							g.chr14:70270922delT	AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT														0	126	-									RNA	DEL	ENST00000408133.1	37																																																																																						0.353	SNORA11.1-201	NOVEL	basic	snoRNA	snoRNA		NR_002953		3	3						3	3	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1030-1032)del		family with sequence similarity 98, member C				414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				SO:0001651	inframe_deletion	147965							g.chr19:38899502_38899504delAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del					FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	p.K349del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	1049_1051	+	all_cancers(60;3.95e-06)		349					A6NMW3|Q66K45	In_Frame_Del	DEL	ENST00000252530.5	37	c.1030_1032delAAG	CCDS42562.1																																																																																				0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		7	54						7	54	---	---	---	---
FAM217B	63939	broad.mit.edu	37	20	58519620	58519620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr20:58519620delC	ENST00000358293.3	+	5	1037	c.622delC	c.(622-624)cccfs	p.P209fs	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Frame_Shift_Del_p.P209fs	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	209																	CAAAGCAAGGCCCCCCACTGC	0.542																																						ENST00000358293.3																			0											c.(622-624)ccfs		family with sequence similarity 217, member B							34.0	41.0	38.0					20																	58519620		2203	4300	6503	SO:0001589	frameshift_variant	63939							g.chr20:58519620delC	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.622delC	20.37:g.58519620delC	ENSP00000351040:p.Pro209fs					FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Frame_Shift_Del_p.P209fs	p.P209fs	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1037	+			209					B3KWH1|Q9NTA3	Frame_Shift_Del	DEL	ENST00000358293.3	37	c.622delC	CCDS13484.1																																																																																				0.542	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		22	31						22	31	---	---	---	---
