#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
OSGEPL1	64172	broad.mit.edu	37	2	190626231	190626231	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:190626231A>G	ENST00000264151.5	-	2	238	c.136T>C	c.(136-138)Tgt>Cgt	p.C46R	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.C46R|OSGEPL1_ENST00000519810.1_Missense_Mutation_p.C46R|OSGEPL1-AS1_ENST00000523895.1_RNA|OSGEPL1-AS1_ENST00000521819.1_RNA|OSGEPL1-AS1_ENST00000520651.1_RNA|RP11-455J20.3_ENST00000608680.1_RNA	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTATCATCACAACTAGTTTCA	0.318																																						ENST00000519810.1																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(136-138)Tgt>Cgt		O-sialoglycoprotein endopeptidase-like 1							84.0	82.0	83.0					2																	190626231		1846	4097	5943	SO:0001583	missense	64172				proteolysis|tRNA processing		metalloendopeptidase activity	g.chr2:190626231A>G	AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.136T>C	2.37:g.190626231A>G	ENSP00000264151:p.Cys46Arg					OSGEPL1_ENST00000264151.5_Missense_Mutation_p.C46R|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.C46R	p.C46R			Q9H4B0	OSGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)		3	478	-			46						Missense_Mutation	SNP	ENST00000264151.5	37	c.136T>C	CCDS46472.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214302	0.79352	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000517895;ENST00000521630	T;T;T	0.17528	2.27;2.27;2.27	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.49661	-0.8916	10	0.87932	D	0	-13.089	16.0829	0.81017	1.0:0.0:0.0:0.0	.	46;46	B4DGY7;Q9H4B0	.;OSGP2_HUMAN	R	46	ENSP00000264151:C46R;ENSP00000428859:C46R;ENSP00000429697:C46R	ENSP00000264151:C46R	C	-	1	0	OSGEPL1	190334476	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.779000	0.91792	2.194000	0.70268	0.482000	0.46254	TGT		0.318	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353		3	73	0	0	0	1	0	3	73				
CHD4	1108	broad.mit.edu	37	12	6702291	6702291	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr12:6702291T>C	ENST00000357008.2	-	17	2781	c.2618A>G	c.(2617-2619)gAt>gGt	p.D873G	CHD4_ENST00000544040.1_Missense_Mutation_p.D866G|CHD4_ENST00000544484.1_Missense_Mutation_p.D870G|CHD4_ENST00000309577.6_Missense_Mutation_p.D873G	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	873	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATGGGCTTCATCCACGATGAG	0.473																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2617-2619)gAt>gGt		chromodomain helicase DNA binding protein 4							101.0	91.0	95.0					12																	6702291		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6702291T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2618A>G	12.37:g.6702291T>C	ENSP00000349508:p.Asp873Gly					CHD4_ENST00000544484.1_Missense_Mutation_p.D870G|CHD4_ENST00000544040.1_Missense_Mutation_p.D866G|CHD4_ENST00000357008.2_Missense_Mutation_p.D873G	p.D873G			Q14839	CHD4_HUMAN			17	2781	-			873			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2618A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653904	0.88056	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22	5.3	5.3	0.74995	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99928	0.9967	H	0.99609	4.655	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.91635	0.997;0.999;0.993	D	0.95831	0.8858	10	0.87932	D	0	-6.8555	15.2641	0.73649	0.0:0.0:0.0:1.0	.	873;873;866	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	870;866;873;873;847	ENSP00000440392:D870G;ENSP00000440542:D866G;ENSP00000312419:D873G;ENSP00000349508:D873G	ENSP00000312419:D873G	D	-	2	0	CHD4	6572552	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.671000	0.83941	2.013000	0.59113	0.383000	0.25322	GAT		0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	44	0	0	0	1	0	7	44				
PTF1A	256297	broad.mit.edu	37	10	23482633	23482633	+	Splice_Site	SNP	G	G	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:23482633G>T	ENST00000376504.3	+	2	989	c.785G>T	c.(784-786)cGg>cTg	p.R262L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	262					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						ACCTGTCCAGGGTCCCCCTCC	0.507																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.e2-1		pancreas specific transcription factor, 1a							151.0	171.0	165.0					10																	23482633		2203	4300	6503	SO:0001630	splice_region_variant	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23482633G>T	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.785-1G>T	10.37:g.23482633G>T							p.R262_splice	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			2	989	+			262					Q9HC25	Splice_Site	SNP	ENST00000376504.3	37	c.784_splice	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919066	0.73098	.	.	ENSG00000168267	ENST00000376504	D	0.94793	-3.52	5.34	5.34	0.76211	.	0.063256	0.64402	D	0.000014	D	0.96349	0.8809	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.95646	0.8702	9	.	.	.	.	18.6906	0.91581	0.0:0.0:1.0:0.0	.	262	Q7RTS3	PTF1A_HUMAN	L	262	ENSP00000365687:R262L	.	R	+	2	0	PTF1A	23522639	1.000000	0.71417	0.995000	0.50966	0.778000	0.44026	9.711000	0.98735	2.519000	0.84933	0.555000	0.69702	CGG		0.507	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161	Missense_Mutation	6	151	1	0	3.59834e-05	1	3.80396e-05	6	151				
MET	4233	broad.mit.edu	37	7	116399499	116399499	+	Silent	SNP	G	G	A	rs141733128	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr7:116399499G>A	ENST00000318493.6	+	10	2560	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	MET_ENST00000436117.2_Intron|MET_ENST00000397752.3_Silent_p.P773P			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTAGTGTCCCGAGAATGGTCA	0.433			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				G|||	3	0.000599042	0.0015	0.0	5008	,	,		19128	0.0		0.001	False		,,,				2504	0.0					ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2317-2319)ccG>ccA		met proto-oncogene							120.0	117.0	118.0					7																	116399499		1914	4121	6035	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116399499G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2373G>A	7.37:g.116399499G>A						MET_ENST00000436117.2_Intron|MET_ENST00000318493.6_Silent_p.P791P	p.P773P	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		10	2519	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	773		P -> L (in gastric cancer).	IPT/TIG 3.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.2319G>A	CCDS47689.1																																																																																				0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	14	0	0	0	1	0	5	14				
COG7	91949	broad.mit.edu	37	16	23436137	23436137	+	Silent	SNP	C	C	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:23436137C>A	ENST00000307149.5	-	7	1127	c.942G>T	c.(940-942)ctG>ctT	p.L314L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	314					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AGAACTCCAGCAGCCTGGTGA	0.637																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(940-942)ctG>ctT		component of oligomeric golgi complex 7							87.0	91.0	90.0					16																	23436137		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23436137C>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.942G>T	16.37:g.23436137C>A							p.L314L	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	7	1127	-			314					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.942G>T	CCDS10610.1																																																																																				0.637	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			24	59	1	0	2.21704e-12	1	2.44867e-12	24	59				
DOCK1	1793	broad.mit.edu	37	10	129224169	129224169	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:129224169A>G	ENST00000280333.6	+	47	4854	c.4745A>G	c.(4744-4746)cAt>cGt	p.H1582R		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1582	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCAGAATCCATGGAGACAAA	0.498																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4744-4746)cAt>cGt		dedicator of cytokinesis 1							189.0	189.0	189.0					10																	129224169		1924	4140	6064	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129224169A>G	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4745A>G	10.37:g.129224169A>G	ENSP00000280333:p.His1582Arg						p.H1582R	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	47	4854	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1582			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4745A>G		.	.	.	.	.	.	.	.	.	.	a	15.68	2.904931	0.52333	.	.	ENSG00000150760	ENST00000280333	T	0.19394	2.15	4.98	4.98	0.66077	.	0.110077	0.64402	D	0.000009	T	0.56093	0.1962	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.995	T	0.68375	-0.5425	10	0.87932	D	0	.	14.8644	0.70404	1.0:0.0:0.0:0.0	.	1582;1648;1582	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	R	1582	ENSP00000280333:H1582R	ENSP00000280333:H1582R	H	+	2	0	DOCK1	129114159	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	9.078000	0.94023	2.094000	0.63399	0.370000	0.22315	CAT		0.498	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		37	89	0	0	0	1	0	37	89				
UTRN	7402	broad.mit.edu	37	6	144783990	144783990	+	Silent	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:144783990C>T	ENST00000367545.3	+	22	3054	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1018					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTCTCACACTCAGAGCTTTTG	0.338																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(3052-3054)ctC>ctT		utrophin							77.0	87.0	84.0					6																	144783990		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144783990C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3054C>T	6.37:g.144783990C>T							p.L1018L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	22	3054	+		Ovarian(120;0.218)	1018					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.3054C>T	CCDS34547.1																																																																																				0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			12	54	0	0	0	1	0	12	54				
OR5L1	219437	broad.mit.edu	37	11	55579005	55579005	+	Silent	SNP	T	T	A	rs201075284		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr11:55579005T>A	ENST00000333973.2	+	1	152	c.63T>A	c.(61-63)ccT>ccA	p.P21P		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CAGATGTCCCTGAGTTGAGAG	0.473																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(61-63)ccT>ccA		olfactory receptor, family 5, subfamily L, member 1							226.0	209.0	215.0					11																	55579005		2200	4293	6493	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579005T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.63T>A	11.37:g.55579005T>A							p.P21P	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	152	+		all_epithelial(135;0.208)	21					B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.63T>A	CCDS31509.1																																																																																				0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		48	118	0	0	0	1	0	48	118				
OR10Q1	219960	broad.mit.edu	37	11	57995629	57995629	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr11:57995629C>T	ENST00000316770.2	-	1	761	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GAAGGCCCGGCGGCGGCCCTC	0.632																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(718-720)cGc>cAc		olfactory receptor, family 10, subfamily Q, member 1							56.0	52.0	53.0					11																	57995629		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995629C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.719G>A	11.37:g.57995629C>T	ENSP00000314324:p.Arg240His						p.R240H	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	761	-		Breast(21;0.0589)	240					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.719G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957098	0.34565	.	.	ENSG00000180475	ENST00000316770	T	0.00034	8.87	4.84	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.392096	0.19178	N	0.120769	T	0.00109	0.0003	N	0.16478	0.41	0.20638	N	0.999874	D	0.55385	0.971	P	0.49192	0.602	T	0.52457	-0.8573	10	0.30854	T	0.27	.	7.8127	0.29241	0.0:0.4201:0.0:0.5799	.	240	Q8NGQ4	O10Q1_HUMAN	H	240	ENSP00000314324:R240H	ENSP00000314324:R240H	R	-	2	0	OR10Q1	57752205	0.000000	0.05858	0.701000	0.30321	0.894000	0.52154	-1.055000	0.03493	0.378000	0.24764	-0.232000	0.12228	CGC		0.632	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		7	46	0	0	0	1	0	7	46				
TP63	8626	broad.mit.edu	37	3	189612175	189612175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr3:189612175C>T	ENST00000264731.3	+	14	2016	c.1927C>T	c.(1927-1929)Cga>Tga	p.R643*	TP63_ENST00000440651.2_Nonsense_Mutation_p.R639*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R545*|TP63_ENST00000382063.4_Nonsense_Mutation_p.R558*|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Nonsense_Mutation_p.R549*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R464*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	643	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGATGCTGTGCGATTCACCCT	0.552										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1927-1929)Cga>Tga		tumor protein p63							125.0	115.0	118.0					3																	189612175		2203	4300	6503	SO:0001587	stop_gained	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189612175C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1927C>T	3.37:g.189612175C>T	ENSP00000264731:p.Arg643*	HNSCC(45;0.13)				TP63_ENST00000382063.4_Nonsense_Mutation_p.R558*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R545*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R464*|TP63_ENST00000440651.2_Nonsense_Mutation_p.R639*|TP63_ENST00000354600.5_Nonsense_Mutation_p.R549*|TP63_ENST00000320472.5_3'UTR	p.R643*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	14	2016	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		643			Transactivation inhibition.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	ENST00000264731.3	37	c.1927C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821471	0.96989	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.6124	19.2867	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	643;639;558;549;464;545	.	.	R	+	1	2	TP63	191094869	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	7.290000	0.78711	2.793000	0.96121	0.655000	0.94253	CGA		0.552	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		9	39	0	0	0	1	0	9	39				
TMEM192	201931	broad.mit.edu	37	4	166021832	166021832	+	Silent	SNP	G	G	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:166021832G>T	ENST00000306480.6	-	3	532	c.387C>A	c.(385-387)atC>atA	p.I129I	TMEM192_ENST00000506087.1_Silent_p.I125I	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TTGATCGGTAGATCAAGTTAT	0.413																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(385-387)atC>atA		transmembrane protein 192							97.0	96.0	96.0					4																	166021832		1889	4124	6013	SO:0001819	synonymous_variant	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166021832G>T	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.387C>A	4.37:g.166021832G>T						TMEM192_ENST00000506087.1_Silent_p.I125I	p.I129I	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	3	532	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	129					Q7Z3A1|Q8N928	Silent	SNP	ENST00000306480.6	37	c.387C>A	CCDS43279.1																																																																																				0.413	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		14	45	1	0	4.3838e-07	1	4.77061e-07	14	45				
KL	9365	broad.mit.edu	37	13	33629460	33629460	+	Intron	SNP	A	A	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr13:33629460A>G	ENST00000380099.3	+	3	1607				KL_ENST00000426690.2_Missense_Mutation_p.Q229R|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho						acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAAGTAAGTCAGCTGACAAAA	0.458																																						ENST00000426690.2																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(685-687)cAg>cGg		klotho							46.0	49.0	48.0					13																	33629460		2203	4300	6503	SO:0001627	intron_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33629460A>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1599+8A>G	13.37:g.33629460A>G						KL_ENST00000487852.1_3'UTR|KL_ENST00000380099.3_Intron	p.Q229R			Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	3	1033	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	536			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.686A>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350903	0.41599	.	.	ENSG00000133116	ENST00000426690	T	0.29397	1.57	5.76	-0.15	0.13416	.	.	.	.	.	T	0.16300	0.0392	.	.	.	0.80722	D	1	B	0.26445	0.149	B	0.28784	0.094	T	0.10800	-1.0614	7	.	.	.	.	3.3759	0.07237	0.642:0.0979:0.0875:0.1726	.	229	B3KUJ4	.	R	229	ENSP00000399513:Q229R	.	Q	+	2	0	KL	32527460	0.995000	0.38212	0.971000	0.41717	0.929000	0.56500	0.401000	0.20948	0.102000	0.17638	0.533000	0.62120	CAG		0.458	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			3	35	0	0	0	1	0	3	35				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	31	0	0	0	1	0	3	31				
CORIN	10699	broad.mit.edu	37	4	47788869	47788869	+	Silent	SNP	G	G	T	rs61764289		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:47788869G>T	ENST00000273857.4	-	3	281	c.282C>A	c.(280-282)tcC>tcA	p.S94S	CORIN_ENST00000505909.1_Silent_p.S94S|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Silent_p.S94S|CORIN_ENST00000508498.1_5'UTR	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	94					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAATAACATCGGACCCTTGGA	0.408																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(280-282)tcC>tcA		corin, serine peptidase							94.0	86.0	89.0					4																	47788869		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47788869G>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.282C>A	4.37:g.47788869G>T						CORIN_ENST00000504584.1_Silent_p.S94S|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000505909.1_Silent_p.S94S|CORIN_ENST00000502252.1_Intron	p.S94S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			3	281	-			94					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.282C>A	CCDS3477.1																																																																																				0.408	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			3	35	1	0	1	1	1	3	35				
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|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.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119.0	120.0	120.0					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	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.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		38	94	0	0	0	1	0	38	94				
LAMA3	3909	broad.mit.edu	37	18	21441709	21441709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr18:21441709G>T	ENST00000313654.9	+	35	4763	c.4522G>T	c.(4522-4524)Gag>Tag	p.E1508*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.E1508*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1508	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGATCTCCAGGAGCTGCCCGC	0.597																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4522-4524)Gag>Tag		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	42.0	41.0					18																	21441709		2020	4181	6201	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21441709G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4522G>T	18.37:g.21441709G>T	ENSP00000324532:p.Glu1508*					LAMA3_ENST00000399516.3_Nonsense_Mutation_p.E1508*	p.E1508*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			35	4763	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1508			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.4522G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	42	9.795377	0.99266	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	.	.	.	5.5	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	14.096	0.65021	0.0721:0.0:0.9278:0.0	.	.	.	.	X	1508;1508;1506	.	ENSP00000324532:E1508X	E	+	1	0	LAMA3	19695707	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.313000	0.78978	1.322000	0.45245	0.555000	0.69702	GAG		0.597	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		3	20	1	0	0.004672	1	0.004736	3	20				
CAB39	51719	broad.mit.edu	37	2	231663527	231663527	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:231663527T>C	ENST00000258418.5	+	5	911	c.482T>C	c.(481-483)tTg>tCg	p.L161S	CAB39_ENST00000409788.3_Missense_Mutation_p.L161S|CAB39_ENST00000410084.3_Missense_Mutation_p.L161S	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	161					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		AAAATCATTTTGTGGTCGGAA	0.338																																						ENST00000258418.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(481-483)tTg>tCg		calcium binding protein 39							88.0	87.0	88.0					2																	231663527		2203	4300	6503	SO:0001583	missense	51719				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding	g.chr2:231663527T>C	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.482T>C	2.37:g.231663527T>C	ENSP00000258418:p.Leu161Ser					CAB39_ENST00000410084.3_Missense_Mutation_p.L161S|CAB39_ENST00000409788.3_Missense_Mutation_p.L161S	p.L161S	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	5	911	+		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)	161					A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	37	c.482T>C	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357701	0.82243	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.38077	1.16;1.16;1.16	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80125	-0.1513	10	0.87932	D	0	.	13.6933	0.62562	0.0:0.0:0.0:1.0	.	161	Q9Y376	CAB39_HUMAN	S	161	ENSP00000258418:L161S;ENSP00000386238:L161S;ENSP00000386642:L161S	ENSP00000258418:L161S	L	+	2	0	CAB39	231371771	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.114000	0.64651	0.383000	0.25322	TTG		0.338	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		16	37	0	0	0	1	0	16	37				
F13B	2165	broad.mit.edu	37	1	197030039	197030039	+	Silent	SNP	T	T	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:197030039T>A	ENST00000367412.1	-	4	661	c.618A>T	c.(616-618)ccA>ccT	p.P206P		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGGTACATTTTGGTGTGAGAG	0.393																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(616-618)ccA>ccT		coagulation factor XIII, B polypeptide							208.0	190.0	196.0					1																	197030039		2203	4300	6503	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197030039T>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.618A>T	1.37:g.197030039T>A							p.P206P	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			4	661	-			206			Sushi 3.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.618A>T	CCDS1388.1																																																																																				0.393	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		23	52	0	0	0	1	0	23	52				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	20	0	0	0	1	0	4	20				
ZNF688	146542	broad.mit.edu	37	16	30581273	30581273	+	Silent	SNP	G	G	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:30581273G>A	ENST00000223459.6	-	3	1899	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZNF688_ENST00000395219.1_Silent_p.F251F|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GGTAGTGCCGGAAGAGCACAG	0.711																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(793-795)ttC>ttT		zinc finger protein 688							28.0	31.0	30.0					16																	30581273		2042	4084	6126	SO:0001819	synonymous_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581273G>A	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.795C>T	16.37:g.30581273G>A						ZNF688_ENST00000395219.1_Silent_p.F251F	p.F265F	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1899	-			265					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	c.795C>T	CCDS10684.1																																																																																				0.711	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		15	33	0	0	0	1	0	15	33				
RSC1A1	6248	broad.mit.edu	37	1	15986477	15986477	+	Silent	SNP	C	C	T	rs533088478		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:15986477C>T	ENST00000345034.1	+	1	114	c.114C>T	c.(112-114)tgC>tgT	p.C38C	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	38					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCAGTCTGCCCTATCAAGC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		21016	0.0		0.0	False		,,,				2504	0.001					ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(112-114)tgC>tgT		regulatory solute carrier protein, family 1, member 1							184.0	191.0	189.0					1																	15986477		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986477C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.114C>T	1.37:g.15986477C>T						DDI2_ENST00000480945.1_3'UTR	p.C38C	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	114	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	38					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.114C>T	CCDS161.1																																																																																				0.473	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		5	152	0	0	0	1	0	5	152				
G6PC3	92579	broad.mit.edu	37	17	42152704	42152704	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:42152704C>A	ENST00000269097.4	+	5	793	c.562C>A	c.(562-564)Ccc>Acc	p.P188T		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	188					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGATGACTCCCCGAGTGCC	0.597																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(562-564)Ccc>Acc		glucose 6 phosphatase, catalytic, 3							109.0	97.0	101.0					17																	42152704		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152704C>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.562C>A	17.37:g.42152704C>A	ENSP00000269097:p.Pro188Thr						p.P188T	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	793	+		Breast(137;0.00637)|Prostate(33;0.0313)	188					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.562C>A	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456303	0.26161	.	.	ENSG00000141349	ENST00000269097	T	0.73681	-0.77	5.27	5.27	0.74061	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.607303	0.17344	N	0.177639	T	0.54382	0.1855	N	0.03154	-0.405	0.39245	D	0.963931	P	0.43231	0.801	B	0.40741	0.339	T	0.59144	-0.7509	10	0.22706	T	0.39	-4.4477	15.9118	0.79477	0.0:1.0:0.0:0.0	.	188	Q9BUM1	G6PC3_HUMAN	T	188	ENSP00000269097:P188T	ENSP00000269097:P188T	P	+	1	0	G6PC3	39508230	0.161000	0.22892	0.950000	0.38849	0.942000	0.58702	1.673000	0.37534	2.750000	0.94351	0.563000	0.77884	CCC		0.597	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		14	27	1	0	2.31682e-05	1	2.48471e-05	14	27				
UGT2B7	7364	broad.mit.edu	37	4	69962788	69962788	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:69962788A>G	ENST00000508661.1	+	1	577	c.550A>G	c.(550-552)Agt>Ggt	p.S184G	UGT2B7_ENST00000305231.7_Missense_Mutation_p.S184G|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	184					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGAAAAGCATAGTGGAGGATT	0.393																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(550-552)Agt>Ggt		UDP glucuronosyltransferase 2 family, polypeptide B7							122.0	121.0	121.0					4																	69962788		2203	4298	6501	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962788A>G	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.550A>G	4.37:g.69962788A>G	ENSP00000427659:p.Ser184Gly					UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.S184G	p.S184G	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	596	+			184					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.550A>G		.	.	.	.	.	.	.	.	.	.	A	0.354	-0.943159	0.02322	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61980	0.06;0.06	2.54	-5.08	0.02929	.	0.076940	0.53938	U	0.000060	T	0.35770	0.0943	L	0.35542	1.07	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.17722	0.019;0.012	T	0.16719	-1.0393	9	.	.	.	.	0.4631	0.00519	0.2314:0.1415:0.2281:0.3991	.	184;184	E9PBP8;P16662	.;UD2B7_HUMAN	G	184	ENSP00000304811:S184G;ENSP00000427659:S184G	.	S	+	1	0	UGT2B7	69997377	0.131000	0.22433	0.000000	0.03702	0.015000	0.08874	0.477000	0.22196	-1.411000	0.02032	-2.980000	0.00080	AGT		0.393	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		29	89	0	0	0	1	0	29	89				
CHM	1121	broad.mit.edu	37	X	85212902	85212902	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chrX:85212902T>C	ENST00000357749.2	-	7	927	c.898A>G	c.(898-900)Aca>Gca	p.T300A	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.T152A	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	300					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATACAAAATGTAAGAAATTTC	0.274																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(898-900)Aca>Gca		choroideremia (Rab escort protein 1)							48.0	47.0	47.0					X																	85212902		2202	4292	6494	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85212902T>C	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.898A>G	X.37:g.85212902T>C	ENSP00000350386:p.Thr300Ala					CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.T152A	p.T300A	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			7	927	-		all_lung(315;5.41e-06)	300					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.898A>G	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072908	0.76415	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85702	-2.02;-2.02	4.36	4.36	0.52297	.	0.047572	0.85682	D	0.000000	D	0.91085	0.7194	M	0.88570	2.965	0.58432	D	0.999995	P	0.48834	0.916	P	0.55087	0.768	D	0.91445	0.5177	10	0.44086	T	0.13	-10.8818	13.1157	0.59299	0.0:0.0:0.0:1.0	.	300	P24386	RAE1_HUMAN	A	300;152	ENSP00000350386:T300A;ENSP00000441728:T152A	ENSP00000350386:T300A	T	-	1	0	CHM	85099558	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.915000	0.75770	1.535000	0.49220	0.339000	0.21740	ACA		0.274	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		23	11	0	0	0	1	0	23	11				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	35	0	0	0	1	0	3	35				
KIF1A	547	broad.mit.edu	37	2	241726712	241726712	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:241726712G>A	ENST00000320389.7	-	5	543	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R129W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	129	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCGTTGATCCGAGAGAAGAGG	0.652																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(385-387)Cgg>Tgg		kinesin family member 1A							84.0	102.0	96.0					2																	241726712		2066	4200	6266	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241726712G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.385C>T	2.37:g.241726712G>A	ENSP00000322791:p.Arg129Trp					KIF1A_ENST00000320389.7_Missense_Mutation_p.R129W	p.R129W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	5	631	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	129			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.385C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980193	0.74474	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76060	-0.99;-0.99;-0.99	4.51	4.51	0.55191	Kinesin, motor domain (4);	0.069857	0.56097	U	0.000025	D	0.88858	0.6551	M	0.90922	3.16	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.983;0.985	D	0.91877	0.5512	10	0.87932	D	0	.	16.8348	0.85954	0.0:0.0:1.0:0.0	.	129;129;129	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	129	ENSP00000322791:R129W;ENSP00000438388:R129W;ENSP00000384231:R129W	ENSP00000322791:R129W	R	-	1	2	KIF1A	241375385	1.000000	0.71417	0.735000	0.30896	0.716000	0.41182	3.109000	0.50345	2.066000	0.61787	0.655000	0.94253	CGG		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		15	32	0	0	0	1	0	15	32				
RPS9	6203	broad.mit.edu	37	19	54710321	54710321	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr19:54710321G>C	ENST00000302907.4	+	4	570	c.398G>C	c.(397-399)cGc>cCc	p.R133P	RPS9_ENST00000441429.1_Missense_Mutation_p.R133P|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000391752.1_Missense_Mutation_p.R133P|RPS9_ENST00000402367.1_Missense_Mutation_p.R133P|RPS9_ENST00000391753.2_Missense_Mutation_p.R133P	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	133	S4 RNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00182}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		ATCCGCCAGCGCCATATCAGG	0.577																																						ENST00000402367.1																			0				NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20						c.(397-399)cGc>cCc		ribosomal protein S9							31.0	33.0	32.0					19																	54710321		2203	4300	6503	SO:0001583	missense	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54710321G>C	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.398G>C	19.37:g.54710321G>C	ENSP00000302896:p.Arg133Pro					RPS9_ENST00000391752.1_Missense_Mutation_p.R133P|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000302907.4_Missense_Mutation_p.R133P|RPS9_ENST00000441429.1_Missense_Mutation_p.R133P|RPS9_ENST00000391753.2_Missense_Mutation_p.R133P	p.R133P			P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	4	513	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		133			S4 RNA-binding.		A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	c.398G>C	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994615	0.93167	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391753;ENST00000441429	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.7	4.7	0.59300	RNA-binding S4 (4);	0.152878	0.56097	D	0.000035	T	0.78786	0.4338	H	0.97732	4.065	0.80722	D	1	P;D;P	0.63046	0.946;0.992;0.912	P;D;D	0.68039	0.873;0.955;0.955	D	0.86466	0.1782	10	0.72032	D	0.01	-8.2444	15.9326	0.79675	0.0:0.0:1.0:0.0	.	133;133;133	B5MCT8;C9JM19;P46781	.;.;RS9_HUMAN	P	133	ENSP00000302896:R133P;ENSP00000375632:R133P;ENSP00000383937:R133P;ENSP00000375633:R133P;ENSP00000414314:R133P	ENSP00000302896:R133P	R	+	2	0	RPS9	59402133	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.009000	0.93606	2.539000	0.85634	0.655000	0.94253	CGC		0.577	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		4	17	0	0	0	1	0	4	17				
MFHAS1	9258	broad.mit.edu	37	8	8748174	8748174	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:8748174G>A	ENST00000276282.6	-	1	2981	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	799										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATGAGCTGGCAAGAGCCCA	0.602																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2395-2397)Cca>Tca		malignant fibrous histiocytoma amplified sequence 1							65.0	65.0	65.0					8																	8748174		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748174G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2395C>T	8.37:g.8748174G>A	ENSP00000276282:p.Pro799Ser						p.P799S	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2981	-		Hepatocellular(245;0.217)	799					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2395C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326664	0.60743	.	.	ENSG00000147324	ENST00000276282	T	0.32272	1.46	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11690	-1.0577	10	0.15066	T	0.55	.	17.7729	0.88499	0.0:0.0:1.0:0.0	.	799	Q9Y4C4	MFHA1_HUMAN	S	799	ENSP00000276282:P799S	ENSP00000276282:P799S	P	-	1	0	MFHAS1	8785584	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.225000	0.95219	2.679000	0.91253	0.655000	0.94253	CCA		0.602	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		19	39	0	0	0	1	0	19	39				
PITRM1	10531	broad.mit.edu	37	10	3208477	3208477	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:3208477T>C	ENST00000224949.4	-	4	396	c.362A>G	c.(361-363)gAc>gGc	p.D121G	PITRM1_ENST00000451104.2_Missense_Mutation_p.D89G|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.D121G			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	121				D -> N (in Ref. 1; AAC67244). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GAAGAAAGGGTCTCTGCACGG	0.498																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(361-363)gAc>gGc		pitrilysin metallopeptidase 1							192.0	191.0	191.0					10																	3208477		1952	4147	6099	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3208477T>C	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.362A>G	10.37:g.3208477T>C	ENSP00000224949:p.Asp121Gly					PITRM1_ENST00000451104.2_Missense_Mutation_p.D89G|PITRM1_ENST00000224949.4_Missense_Mutation_p.D121G|PITRM1-AS1_ENST00000598280.1_RNA	p.D121G	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			4	400	-			89					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.362A>G	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	t	20.9	4.065008	0.76187	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.32023	1.47;1.47;1.47	5.55	5.55	0.83447	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.129088	0.64402	N	0.000001	T	0.54464	0.1860	M	0.77313	2.365	0.80722	D	1	P;P;P;P;P;P	0.52842	0.956;0.866;0.757;0.878;0.795;0.931	P;P;B;P;P;P	0.59948	0.73;0.866;0.422;0.823;0.823;0.823	T	0.60125	-0.7324	10	0.87932	D	0	.	15.7592	0.78063	0.0:0.0:0.0:1.0	.	114;89;121;121;121;114	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	G	121;114;121;89	ENSP00000224949:D121G;ENSP00000370377:D121G;ENSP00000401201:D89G	ENSP00000224949:D121G	D	-	2	0	PITRM1	3198477	1.000000	0.71417	0.998000	0.56505	0.457000	0.32468	7.447000	0.80620	2.128000	0.65567	0.374000	0.22700	GAC		0.498	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			34	67	0	0	0	1	0	34	67				
MAP3K8	1326	broad.mit.edu	37	10	30739283	30739283	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:30739283G>A	ENST00000263056.1	+	5	1297	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E201K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E201K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTGTGGGGTGAAACTGTCCA	0.493																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(601-603)Gaa>Aaa		mitogen-activated protein kinase kinase kinase 8							123.0	119.0	120.0					10																	30739283		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30739283G>A	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.601G>A	10.37:g.30739283G>A	ENSP00000263056:p.Glu201Lys					MAP3K8_ENST00000375321.1_Missense_Mutation_p.E201K|MAP3K8_ENST00000542547.1_Missense_Mutation_p.E201K	p.E201K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			5	1297	+		Prostate(175;0.151)	201			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.601G>A	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602480	0.46423	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000413724;ENST00000375321	T;T;T;T;T	0.64618	1.07;1.07;-0.11;-0.11;1.07	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.259259	0.45126	D	0.000382	T	0.47210	0.1433	N	0.17922	0.545	0.40344	D	0.979066	B	0.12013	0.005	B	0.19391	0.025	T	0.40794	-0.9544	10	0.33940	T	0.23	.	12.7111	0.57089	0.0758:0.0:0.9241:0.0	.	201	P41279	M3K8_HUMAN	K	201	ENSP00000263056:E201K;ENSP00000443610:E201K;ENSP00000409653:E201K;ENSP00000391275:E201K;ENSP00000364470:E201K	ENSP00000263056:E201K	E	+	1	0	MAP3K8	30779289	1.000000	0.71417	0.559000	0.28332	0.925000	0.55904	5.603000	0.67619	2.658000	0.90341	0.650000	0.86243	GAA		0.493	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		19	46	0	0	0	1	0	19	46				
SLX4	84464	broad.mit.edu	37	16	3658512	3658512	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:3658512C>G	ENST00000294008.3	-	2	1094	c.454G>C	c.(454-456)Gtg>Ctg	p.V152L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	152	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCCGGAGCACAGGTGGATCT	0.502								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(454-456)Gtg>Ctg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							105.0	105.0	105.0					16																	3658512		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658512C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.454G>C	16.37:g.3658512C>G	ENSP00000294008:p.Val152Leu						p.V152L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			2	1094	-			152			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.454G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369452	0.42003	.	.	ENSG00000188827	ENST00000294008	T	0.01209	5.17	5.27	-0.18	0.13295	.	1.212500	0.06359	N	0.711260	T	0.00666	0.0022	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46762	-0.9168	10	0.56958	D	0.05	.	5.2138	0.15332	0.0:0.466:0.2826:0.2514	.	152	Q8IY92	SLX4_HUMAN	L	152	ENSP00000294008:V152L	ENSP00000294008:V152L	V	-	1	0	SLX4	3598513	0.000000	0.05858	0.001000	0.08648	0.634000	0.38068	-0.528000	0.06193	0.048000	0.15891	-0.156000	0.13503	GTG		0.502	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		19	39	0	0	0	1	0	19	39				
NCKAP5	344148	broad.mit.edu	37	2	133636429	133636429	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:133636429G>T	ENST00000409261.1	-	9	1013	c.640C>A	c.(640-642)Ctt>Att	p.L214I	NCKAP5_ENST00000405974.3_Missense_Mutation_p.L214I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L214I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L214I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	214										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTCATCAAGACATCGCTCA	0.418																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(640-642)Ctt>Att		NCK-associated protein 5							181.0	176.0	178.0					2																	133636429		2001	4156	6157	SO:0001583	missense	344148						protein binding	g.chr2:133636429G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.640C>A	2.37:g.133636429G>T	ENSP00000387128:p.Leu214Ile					NCKAP5_ENST00000409213.1_Missense_Mutation_p.L214I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.L214I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L214I	p.L214I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			9	1013	-			214					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.640C>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073672	0.55646	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.78126	0.74;-1.15;0.74;-1.15	5.7	5.7	0.88788	.	0.000000	0.28209	U	0.016191	D	0.85771	0.5774	L	0.52573	1.65	0.30147	N	0.803404	D;P	0.89917	1.0;0.633	D;P	0.83275	0.996;0.686	D	0.83535	0.0093	10	0.87932	D	0	.	18.0183	0.89248	0.0:0.0:1.0:0.0	.	214;214	O14513-2;O14513	.;NCKP5_HUMAN	I	214	ENSP00000387128:L214I;ENSP00000386952:L214I;ENSP00000380603:L214I;ENSP00000385692:L214I	ENSP00000380603:L214I	L	-	1	0	NCKAP5	133352899	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.151000	0.77411	2.711000	0.92665	0.561000	0.74099	CTT		0.418	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	17	1	0	8.12818e-05	1	8.47163e-05	7	17				
EPB41L2	2037	broad.mit.edu	37	6	131277399	131277399	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:131277399C>T	ENST00000337057.3	-	2	408	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	EPB41L2_ENST00000525193.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R76Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R76Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R76Q|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R76Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	76					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CGGTATGAACCGAGAAATACC	0.478																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(226-228)cGg>cAg		erythrocyte membrane protein band 4.1-like 2							153.0	150.0	151.0					6																	131277399		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277399C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.227G>A	6.37:g.131277399C>T	ENSP00000338481:p.Arg76Gln					EPB41L2_ENST00000527411.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R76Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R76Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R76Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R76Q	p.R76Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	408	-	Breast(56;0.0639)		76					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.227G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726777	0.89390	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709;ENST00000532499;ENST00000526983;ENST00000531356;ENST00000530707	D;D;D;D;D;D;D;D;D;D;D;T;T;T;T;T	0.90563	-2.61;-2.56;-2.61;-2.69;-2.58;-2.69;-2.6;-2.58;-2.55;-2.56;-2.6;-0.45;-0.39;-0.32;-0.25;-0.21	6.17	6.17	0.99709	.	0.000000	0.53938	D	0.000049	D	0.92492	0.7616	L	0.36672	1.1	0.42849	D	0.99407	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.992;0.992;0.992;0.996;0.992	D	0.92864	0.6308	10	0.87932	D	0	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	76;76;76;76;76	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	Q	76	ENSP00000434308:R76Q;ENSP00000434576:R76Q;ENSP00000402041:R76Q;ENSP00000338481:R76Q;ENSP00000376222:R76Q;ENSP00000357110:R76Q;ENSP00000436348:R76Q;ENSP00000432803:R76Q;ENSP00000431988:R76Q;ENSP00000431647:R76Q;ENSP00000436641:R76Q;ENSP00000436871:R76Q;ENSP00000432013:R76Q;ENSP00000432329:R76Q;ENSP00000436145:R76Q;ENSP00000435556:R76Q	ENSP00000338481:R76Q	R	-	2	0	EPB41L2	131319092	0.998000	0.40836	0.996000	0.52242	0.579000	0.36224	4.962000	0.63687	2.941000	0.99782	0.655000	0.94253	CGG		0.478	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			9	95	0	0	0	1	0	9	95				
CDCA2	157313	broad.mit.edu	37	8	25364244	25364244	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:25364244A>C	ENST00000330560.3	+	15	2539	c.2062A>C	c.(2062-2064)Aat>Cat	p.N688H	CDCA2_ENST00000380665.3_Missense_Mutation_p.N673H|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	688					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CATTAATGAAAATAAAAATAT	0.328																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2062-2064)Aat>Cat		cell division cycle associated 2							33.0	36.0	35.0					8																	25364244		2195	4296	6491	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364244A>C	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2062A>C	8.37:g.25364244A>C	ENSP00000328228:p.Asn688His					CDCA2_ENST00000380665.3_Missense_Mutation_p.N673H|CDCA2_ENST00000521098.2_3'UTR	p.N688H	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	2539	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	688					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.2062A>C	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	7.974	0.749785	0.15778	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.45668	0.89;0.89	5.18	2.84	0.33178	.	0.949616	0.08803	N	0.891411	T	0.28830	0.0715	L	0.27053	0.805	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.21546	0.035;0.035	T	0.28235	-1.0050	10	0.36615	T	0.2	-3.9463	4.692	0.12785	0.6864:0.2119:0.1018:0.0	.	673;688	E9PEI0;Q69YH5	.;CDCA2_HUMAN	H	688;673;87	ENSP00000328228:N688H;ENSP00000370040:N673H	ENSP00000328228:N688H	N	+	1	0	CDCA2	25420161	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	1.205000	0.32308	0.457000	0.26962	0.528000	0.53228	AAT		0.328	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		15	50	0	0	0	1	0	15	50				
MED24	9862	broad.mit.edu	37	17	38182486	38182486	+	Silent	SNP	A	A	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:38182486A>T	ENST00000394128.2	-	19	1989	c.1908T>A	c.(1906-1908)cgT>cgA	p.R636R	MED24_ENST00000394127.2_Silent_p.R623R|MED24_ENST00000394126.1_Silent_p.R661R|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000356271.3_Silent_p.R623R|MED24_ENST00000501516.3_Silent_p.R655R	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	636					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCGACTTCTCACGCTCATCCA	0.552																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1981-1983)cgT>cgA		mediator complex subunit 24							149.0	133.0	138.0					17																	38182486		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38182486A>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1908T>A	17.37:g.38182486A>T						MED24_ENST00000394127.2_Silent_p.R623R|MED24_ENST00000394128.2_Silent_p.R636R|MED24_ENST00000356271.3_Silent_p.R623R|MED24_ENST00000501516.3_Silent_p.R655R	p.R661R			O75448	MED24_HUMAN			18	2401	-	Colorectal(19;0.000442)		636					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.1983T>A	CCDS11359.1																																																																																				0.552	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		6	72	0	0	0	1	0	6	72				
ABCA1	19	broad.mit.edu	37	9	107645339	107645339	+	Silent	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr9:107645339C>T	ENST00000374736.3	-	5	796	c.402G>A	c.(400-402)caG>caA	p.Q134Q	ABCA1_ENST00000423487.2_Silent_p.Q134Q|ABCA1_ENST00000374733.1_Silent_p.Q74Q	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	134					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ATTTCTTGATCTGCTGTAATG	0.468																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(400-402)caG>caA		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						174.0	164.0	167.0					9																	107645339		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107645339C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.402G>A	9.37:g.107645339C>T						ABCA1_ENST00000423487.2_Silent_p.Q134Q|ABCA1_ENST00000374733.1_Silent_p.Q74Q	p.Q134Q	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	5	796	-			134					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.402G>A	CCDS6762.1																																																																																				0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		8	103	0	0	0	1	0	8	103				
CFAP46	54777	broad.mit.edu	37	10	134743283	134743283	+	Missense_Mutation	SNP	G	G	A	rs141623050		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:134743283G>A	ENST00000368586.5	-	9	992	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	TTC40_ENST00000368585.3_Missense_Mutation_p.R298C|TTC40_ENST00000368582.2_Missense_Mutation_p.R298C	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AAGGAAAAACGCGCCAATTCA	0.493																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(892-894)Cgt>Tgt		tetratricopeptide repeat domain 40		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	53.0	52.0		892	2.1	0.0	10	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense	C10orf93	NM_173572.3	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	298/406	134743283	2,13004	2203	4300	6503	SO:0001583	missense	54777							g.chr10:134743283G>A																												ENST00000368586.5:c.892C>T	10.37:g.134743283G>A	ENSP00000357575:p.Arg298Cys					TTC40_ENST00000368585.3_Missense_Mutation_p.R298C|TTC40_ENST00000368582.2_Missense_Mutation_p.R298C	p.R298C	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			9	992	-			0						Missense_Mutation	SNP	ENST00000368586.5	37	c.892C>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691723	0.30052	2.27E-4	1.16E-4	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	T;T;T	0.56103	0.48;0.48;0.48	4.02	2.13	0.27403	.	1.394770	0.05045	U	0.477054	T	0.67116	0.2859	L	0.59436	1.845	0.09310	N	0.999999	D	0.76494	0.999	P	0.62014	0.897	T	0.50406	-0.8832	10	0.87932	D	0	.	9.6642	0.39974	0.1833:0.0:0.8167:0.0	.	298	Q5SR76-1	.	C	298	ENSP00000357575:R298C;ENSP00000357571:R298C;ENSP00000357574:R298C	ENSP00000357571:R298C	R	-	1	0	C10orf93	134593273	0.942000	0.31987	0.000000	0.03702	0.000000	0.00434	5.784000	0.68990	0.418000	0.25898	-0.291000	0.09656	CGT		0.493	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			8	32	0	0	0	1	0	8	32				
NRG1	3084	broad.mit.edu	37	8	32453407	32453407	+	Silent	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:32453407C>T	ENST00000405005.3	+	2	162	c.162C>T	c.(160-162)gtC>gtT	p.V54V	NRG1_ENST00000521670.1_Silent_p.V54V|NRG1_ENST00000356819.4_Silent_p.V54V|NRG1_ENST00000519301.1_Silent_p.V33V|NRG1_ENST00000520407.1_Silent_p.V269V|NRG1_ENST00000523079.1_Silent_p.V54V|NRG1_ENST00000338921.4_Silent_p.V54V|NRG1_ENST00000287842.3_Silent_p.V54V|NRG1_ENST00000341377.5_Silent_p.V54V|NRG1_ENST00000287845.5_Silent_p.V54V			Q02297	NRG1_HUMAN	neuregulin 1	54	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAAACTAGTCCTTCGGTGTG	0.403																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(160-162)gtC>gtT		neuregulin 1							115.0	127.0	123.0					8																	32453407		2203	4300	6503	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32453407C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.162C>T	8.37:g.32453407C>T						NRG1_ENST00000287840.5_Silent_p.V54V|NRG1_ENST00000521670.1_Silent_p.V54V|NRG1_ENST00000287842.3_Silent_p.V54V|NRG1_ENST00000287845.5_Silent_p.V54V|NRG1_ENST00000356819.4_Silent_p.V54V|NRG1_ENST00000523079.1_Silent_p.V54V|NRG1_ENST00000405005.2_Silent_p.V54V|NRG1_ENST00000520407.1_Silent_p.V269V|NRG1_ENST00000338921.4_Silent_p.V54V|NRG1_ENST00000519301.1_Silent_p.V33V	p.V54V			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	2	679	+		Breast(100;0.203)	54			Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.162C>T	CCDS6085.1																																																																																				0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			5	104	0	0	0	1	0	5	104				
GRIK3	2899	broad.mit.edu	37	1	37267464	37267464	+	Silent	SNP	A	A	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:37267464A>T	ENST00000373091.3	-	16	2764	c.2748T>A	c.(2746-2748)ccT>ccA	p.P916P		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	916					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGGGGAACACAGGGGCTAAGG	0.612																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(2746-2748)ccT>ccA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						75.0	62.0	67.0					1																	37267464		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37267464A>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2748T>A	1.37:g.37267464A>T							p.P916P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			16	2764	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	916					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2748T>A	CCDS416.1																																																																																				0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		3	33	0	0	0	1	0	3	33				
PDGFA	5154	broad.mit.edu	37	7	540867	540867	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr7:540867C>T	ENST00000354513.5	-	5	858	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	PDGFA_ENST00000402802.3_Missense_Mutation_p.E156K	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	156					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CTGACGTATTCCACCTTGGCC	0.567																																						ENST00000402802.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(466-468)Gaa>Aaa		platelet-derived growth factor alpha polypeptide							257.0	250.0	252.0					7																	540867		2203	4296	6499	SO:0001583	missense	0				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:540867C>T		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"""PDGF A-chain"", ""platelet-derived growth factor alpha chain"""	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.466G>A	7.37:g.540867C>T	ENSP00000346508:p.Glu156Lys					PDGFA_ENST00000354513.5_Missense_Mutation_p.E156K	p.E156K	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	5	873	-		Ovarian(82;0.0112)	156					B5BU73	Missense_Mutation	SNP	ENST00000354513.5	37	c.466G>A	CCDS34578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.088931|4.088931	0.76756|0.76756	.|.	.|.	ENSG00000197461|ENSG00000197461	ENST00000402802;ENST00000354513|ENST00000400761	T;T|.	0.47177|.	0.85;0.86|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Platelet-derived growth factor (PDGF) (3);|.	0.052661|.	0.64402|.	D|.	0.000001|.	T|T	0.68787|0.68787	0.3039|0.3039	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.87578|.	0.998;0.99;0.998|.	T|T	0.66893|0.66893	-0.5808|-0.5808	10|5	0.30078|.	T|.	0.28|.	-18.5081|-18.5081	17.546|17.546	0.87861|0.87861	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	170;156;156|.	Q32M96;P04085-2;P04085|.	.;.;PDGFA_HUMAN|.	K|E	156|162	ENSP00000383889:E156K;ENSP00000346508:E156K|.	ENSP00000346508:E156K|.	E|G	-|-	1|2	0|0	PDGFA|PDGFA	507393|507393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.782000|0.782000	0.44232|0.44232	6.602000|6.602000	0.74141|0.74141	2.211000|2.211000	0.71520|0.71520	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.567	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			4	182	0	0	0	1	0	4	182				
ZNF236	7776	broad.mit.edu	37	18	74620343	74620343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr18:74620343C>T	ENST00000253159.8	+	14	2557	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q789*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	787					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CACTGTAGACCAGCAGAGCAT	0.552																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2359-2361)Cag>Tag		zinc finger protein 236							101.0	109.0	106.0					18																	74620343		2097	4216	6313	SO:0001587	stop_gained	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620343C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2359C>T	18.37:g.74620343C>T	ENSP00000253159:p.Gln787*					ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q789*	p.Q787*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2557	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	787					B2RTX9|Q9UL37	Nonsense_Mutation	SNP	ENST00000253159.8	37	c.2359C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	40	8.388693	0.98789	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.23	5.23	0.72850	.	0.065812	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1458	0.93467	0.0:1.0:0.0:0.0	.	.	.	.	X	787	.	ENSP00000253159:Q787X	Q	+	1	0	ZNF236	72749331	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	4.678000	0.61641	2.600000	0.87896	0.563000	0.77884	CAG		0.552	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			7	165	0	0	0	1	0	7	165				
TEX15	56154	broad.mit.edu	37	8	30694898	30694898	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:30694898C>T	ENST00000256246.2	-	3	7827	c.7753G>A	c.(7753-7755)Gat>Aat	p.D2585N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2585					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCAATGTATCCTTCATGTAT	0.403																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7753-7755)Gat>Aat		testis expressed 15							94.0	92.0	93.0					8																	30694898		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30694898C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7753G>A	8.37:g.30694898C>T	ENSP00000256246:p.Asp2585Asn						p.D2585N	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7827	-			2585						Missense_Mutation	SNP	ENST00000256246.2	37	c.7753G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348330	0.41599	.	.	ENSG00000133863	ENST00000256246	T	0.18657	2.2	4.95	2.16	0.27623	.	0.253349	0.28393	N	0.015509	T	0.15305	0.0369	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.20806	-1.0264	10	0.87932	D	0	.	8.8057	0.34936	0.0:0.733:0.0:0.267	.	2585	Q9BXT5	TEX15_HUMAN	N	2585	ENSP00000256246:D2585N	ENSP00000256246:D2585N	D	-	1	0	TEX15	30814440	0.008000	0.16893	0.005000	0.12908	0.002000	0.02628	0.504000	0.22626	0.356000	0.24157	-0.813000	0.03139	GAT		0.403	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			23	66	0	0	0	1	0	23	66				
RPS9	6203	broad.mit.edu	37	19	54710322	54710322	+	Silent	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr19:54710322C>T	ENST00000302907.4	+	4	571	c.399C>T	c.(397-399)cgC>cgT	p.R133R	RPS9_ENST00000441429.1_Silent_p.R133R|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000391752.1_Silent_p.R133R|RPS9_ENST00000402367.1_Silent_p.R133R|RPS9_ENST00000391753.2_Silent_p.R133R	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	133	S4 RNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00182}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TCCGCCAGCGCCATATCAGGT	0.577																																						ENST00000402367.1																			0				NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20						c.(397-399)cgC>cgT		ribosomal protein S9							31.0	33.0	32.0					19																	54710322		2203	4300	6503	SO:0001819	synonymous_variant	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54710322C>T	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.399C>T	19.37:g.54710322C>T						RPS9_ENST00000391752.1_Silent_p.R133R|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000302907.4_Silent_p.R133R|RPS9_ENST00000441429.1_Silent_p.R133R|RPS9_ENST00000391753.2_Silent_p.R133R	p.R133R			P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	4	514	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		133			S4 RNA-binding.		A9C4C1|Q4QRK7|Q9BVZ0	Silent	SNP	ENST00000302907.4	37	c.399C>T	CCDS12884.1																																																																																				0.577	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		4	17	0	0	0	1	0	4	17				
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130									DNM1 pseudogene 47																		GACATCAACATGAACACCATC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305084T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305084T>C														0	13130	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	16	0	0	0	1	0	4	16				
RBM6	10180	broad.mit.edu	37	3	50005613	50005613	+	Missense_Mutation	SNP	C	C	T	rs369268393		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr3:50005613C>T	ENST00000266022.4	+	3	1014	c.755C>T	c.(754-756)aCg>aTg	p.T252M	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.T120M	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	252					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GACAGGGATACGCCACATTCA	0.438																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(358-360)aCg>aTg		RNA binding motif protein 6		C	,MET/THR	0,4406		0,0,2203	87.0	87.0	87.0		,755	3.3	0.1	3		87	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	RBM6	NM_001167582.1,NM_005777.2	,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,252/1124	50005613	1,13005	2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005613C>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.755C>T	3.37:g.50005613C>T	ENSP00000266022:p.Thr252Met					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.T252M|RBM6_ENST00000422955.1_Intron	p.T120M			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1278	+			252					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.359C>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	2.284	-0.364011	0.05103	0.0	1.16E-4	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.33216	1.42;1.48	6.04	3.32	0.38043	.	0.667620	0.15749	N	0.246534	T	0.19287	0.0463	N	0.24115	0.695	0.09310	N	0.999992	B	0.19583	0.037	B	0.08055	0.003	T	0.20338	-1.0278	9	.	.	.	0.1238	10.3998	0.44222	0.0:0.7413:0.0:0.2587	.	252	P78332	RBM6_HUMAN	M	252;120	ENSP00000266022:T252M;ENSP00000396466:T120M	.	T	+	2	0	RBM6	49980617	0.000000	0.05858	0.082000	0.20525	0.832000	0.47134	0.107000	0.15375	0.452000	0.26830	-1.036000	0.02392	ACG		0.438	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		19	43	0	0	0	1	0	19	43				
NOD2	64127	broad.mit.edu	37	16	50733414	50733414	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:50733414C>T	ENST00000300589.2	+	2	194	c.89C>T	c.(88-90)tCg>tTg	p.S30L	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	30	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAATGTGCTCGCAGGAGGCT	0.612																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(88-90)tCg>tTg		nucleotide-binding oligomerization domain containing 2							114.0	121.0	119.0					16																	50733414		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733414C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.89C>T	16.37:g.50733414C>T	ENSP00000300589:p.Ser30Leu					NOD2_ENST00000526417.2_3'UTR	p.S30L	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			2	194	+		all_cancers(37;0.0156)	30			CARD 1.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.89C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930981	0.52866	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.70045	0.35;-0.45	5.52	5.52	0.82312	Caspase Recruitment (2);	0.715003	0.12529	N	0.460966	T	0.53465	0.1798	N	0.22421	0.69	0.22171	N	0.999315	B	0.31837	0.342	B	0.22753	0.041	T	0.52779	-0.8530	10	0.62326	D	0.03	.	14.9482	0.71050	0.0:1.0:0.0:0.0	.	30	Q9HC29	NOD2_HUMAN	L	3;3;30	ENSP00000431681:S3L;ENSP00000300589:S30L	ENSP00000300589:S30L	S	+	2	0	NOD2	49290915	0.090000	0.21635	0.655000	0.29622	0.991000	0.79684	2.644000	0.46613	2.617000	0.88574	0.655000	0.94253	TCG		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		4	133	0	0	0	1	0	4	133				
CSMD3	114788	broad.mit.edu	37	8	113812389	113812389	+	Splice_Site	SNP	A	A	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:113812389A>G	ENST00000297405.5	-	13	2217		c.e13+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTAATCATTACCTTTGTAGT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e13+1		CUB and Sushi multiple domains 3							100.0	93.0	96.0					8																	113812389		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113812389A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1972+1T>C	8.37:g.113812389A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			13	2217	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.780779	0.90195	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2002	0.82067	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113881565	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.127000	0.94417	2.231000	0.72958	0.454000	0.30748	.		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	14	36	0	0	0	1	0	14	36				
DAAM2	23500	broad.mit.edu	37	6	39847179	39847179	+	Missense_Mutation	SNP	G	G	A	rs564327973		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:39847179G>A	ENST00000398904.2	+	14	1953	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.V591I|DAAM2_ENST00000274867.4_Missense_Mutation_p.V591I			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	591	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGCAGTGACGTCCCACTCAG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		13740	0.0		0.0	False		,,,				2504	0.001					ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1771-1773)Gtc>Atc		dishevelled associated activator of morphogenesis 2							63.0	65.0	64.0					6																	39847179		1955	4125	6080	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39847179G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1771G>A	6.37:g.39847179G>A	ENSP00000381876:p.Val591Ile					DAAM2_ENST00000274867.4_Missense_Mutation_p.V591I|DAAM2_ENST00000398904.2_Missense_Mutation_p.V591I	p.V591I	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			14	1953	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		591			FH1.|Pro-rich.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1771G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803882	0.16467	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.79749	-1.29;-1.29;-1.3	5.15	-10.3	0.00346	Actin-binding FH2 (1);	2.233800	0.01883	N	0.038000	T	0.27832	0.0685	N	0.08118	0	0.21105	N	0.999781	B;B	0.29988	0.031;0.264	B;B	0.16722	0.016;0.014	T	0.33548	-0.9864	10	0.21014	T	0.42	.	4.1081	0.10047	0.3169:0.2367:0.3678:0.0786	.	591;591	G5EA45;Q86T65	.;DAAM2_HUMAN	I	591	ENSP00000274867:V591I;ENSP00000381876:V591I;ENSP00000437808:V591I	ENSP00000274867:V591I	V	+	1	0	DAAM2	39955157	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-0.016000	0.12613	-1.824000	0.01209	-0.172000	0.13284	GTC		0.652	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			16	61	0	0	0	1	0	16	61				
UGT2B7	7364	broad.mit.edu	37	4	69962451	69962451	+	Silent	SNP	T	T	C			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:69962451T>C	ENST00000508661.1	+	1	240	c.213T>C	c.(211-213)gcT>gcC	p.A71A	UGT2B7_ENST00000305231.7_Silent_p.A71A|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	71			A -> S (in dbSNP:rs12233719).		androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACTCATCCGCTCTTAAAATTG	0.373																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(211-213)gcT>gcC		UDP glucuronosyltransferase 2 family, polypeptide B7							68.0	75.0	72.0					4																	69962451		2203	4299	6502	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962451T>C	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.213T>C	4.37:g.69962451T>C						UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.A71A	p.A71A	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	259	+			71		A -> S (in dbSNP:rs12233719).			B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.213T>C																																																																																					0.373	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		23	61	0	0	0	1	0	23	61				
LRRC27	80313	broad.mit.edu	37	10	134165247	134165247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:134165247C>T	ENST00000368614.3	+	7	1168	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	LRRC27_ENST00000368613.4_Nonsense_Mutation_p.Q355*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.Q228*|LRRC27_ENST00000368615.3_Nonsense_Mutation_p.Q355*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.Q293*|LRRC27_ENST00000344079.5_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.Q293*	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	355										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTGATGGAGCAGCAGAGACG	0.622																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(877-879)Cag>Tag		leucine rich repeat containing 27							38.0	42.0	41.0					10																	134165247		2203	4300	6503	SO:0001587	stop_gained	80313							g.chr10:134165247C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1063C>T	10.37:g.134165247C>T	ENSP00000357603:p.Gln355*					LRRC27_ENST00000368614.3_Nonsense_Mutation_p.Q355*|LRRC27_ENST00000344079.5_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.Q228*|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.Q293*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.Q355*|LRRC27_ENST00000368615.3_Nonsense_Mutation_p.Q355*	p.Q293*			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	6	877	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	355					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	37	c.877C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679283	0.88542	.	.	ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	.	.	.	4.16	3.24	0.37175	.	0.102871	0.37095	N	0.002250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-31.2381	9.899	0.41335	0.2045:0.7955:0.0:0.0	.	.	.	.	X	355;355;355;293;293;228	.	ENSP00000357599:Q293X	Q	+	1	0	LRRC27	134015237	0.994000	0.37717	0.056000	0.19401	0.001000	0.01503	1.151000	0.31651	1.051000	0.40369	-0.310000	0.09108	CAG		0.622	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		6	72	0	0	0	1	0	6	72				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			0							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A								NR_002164.1						0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	144	0	0	0	1	0	4	144				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	27	0	0	0	1	0	3	27				
NDUFAF6	137682	broad.mit.edu	37	8	96070121	96070121	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:96070121C>G	ENST00000396124.4	+	9	981	c.958C>G	c.(958-960)Ctt>Gtt	p.L320V	NDUFAF6_ENST00000396113.1_Missense_Mutation_p.L228V|RNU6-1209P_ENST00000363655.1_RNA|NDUFAF6_ENST00000286687.4_Intron|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.L268V|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.L228V	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	320					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										GAATACATTACTTCCATTATA	0.289																																						ENST00000396113.1																			0											c.(682-684)Ctt>Gtt		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							48.0	47.0	47.0					8																	96070121		1785	4054	5839	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96070121C>G	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.958C>G	8.37:g.96070121C>G	ENSP00000379430:p.Leu320Val					NDUFAF6_ENST00000396111.2_Missense_Mutation_p.L228V|NDUFAF6_ENST00000286687.4_Intron|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.L268V|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.L320V	p.L228V			Q330K2	CH038_HUMAN			15	1732	+			320					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.682C>G	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214199	0.58452	.	.	ENSG00000156170	ENST00000396113;ENST00000396111;ENST00000542894;ENST00000396124	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.9	3.79	0.43588	Terpenoid synthase (1);	0.517370	0.17464	N	0.173355	D	0.82440	0.5037	M	0.87381	2.88	0.80722	D	1	P;P;D	0.59357	0.833;0.577;0.985	P;B;P	0.57009	0.6;0.273;0.811	D	0.85262	0.1051	10	0.66056	D	0.02	-13.0234	12.9517	0.58405	0.0:0.8417:0.0:0.1583	.	320;268;288	Q330K2;Q330K2-2;B4DQ45	CH038_HUMAN;.;.	V	228;228;268;320	ENSP00000379419:L228V;ENSP00000379417:L228V;ENSP00000444515:L268V;ENSP00000379430:L320V	ENSP00000379417:L228V	L	+	1	0	C8orf38	96139297	1.000000	0.71417	0.604000	0.28916	0.990000	0.78478	2.713000	0.47194	1.499000	0.48617	0.563000	0.77884	CTT		0.289	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		21	64	0	0	0	1	0	21	64				
SYNE1	23345	broad.mit.edu	37	6	152552704	152552704	+	Splice_Site	SNP	T	T	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:152552704T>A	ENST00000367255.5	-	114	21464		c.e114-2		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTAAAACCCTAAAAAAAAAG	0.338										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e114-2		spectrin repeat containing, nuclear envelope 1							41.0	40.0	40.0					6																	152552704		2202	4300	6502	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152552704T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20863-2A>T	6.37:g.152552704T>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	114	21464	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686025	0.88639	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152594397	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.879000	0.87236	2.302000	0.77476	0.533000	0.62120	.		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	3	40	0	0	0	1	0	3	40				
FOXP1	27086	broad.mit.edu	37	3	71027139	71027139	+	Silent	SNP	C	C	T	rs138465768		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr3:71027139C>T	ENST00000318789.4	-	15	1713	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	FOXP1_ENST00000498215.1_Silent_p.S396S|FOXP1_ENST00000468577.1_Silent_p.S396S|FOXP1_ENST00000475937.1_Silent_p.S396S|FOXP1_ENST00000491238.1_Silent_p.S398S|FOXP1_ENST00000493089.1_Silent_p.S396S|FOXP1_ENST00000484350.1_Silent_p.S320S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	396					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAGAAGCCTCCGATGCGGACT	0.532			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1186-1188)tcG>tcA		forkhead box P1		C		0,4406		0,0,2203	104.0	110.0	108.0		1188	-7.3	0.6	3	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FOXP1	NM_032682.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		396/678	71027139	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71027139C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1188G>A	3.37:g.71027139C>T						FOXP1_ENST00000484350.1_Silent_p.S320S|FOXP1_ENST00000491238.1_Silent_p.S398S|FOXP1_ENST00000493089.1_Silent_p.S396S|FOXP1_ENST00000475937.1_Silent_p.S396S|FOXP1_ENST00000468577.1_Silent_p.S396S|FOXP1_ENST00000498215.1_Silent_p.S396S	p.S396S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	15	1713	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	396					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.1188G>A	CCDS2914.1																																																																																				0.532	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		34	64	0	0	0	1	0	34	64				
OR2L3	391192	broad.mit.edu	37	1	248224169	248224169	+	Silent	SNP	T	T	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:248224169T>G	ENST00000359959.3	+	1	186	c.186T>G	c.(184-186)ctT>ctG	p.L62L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L62L(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTTCCTACTTAGTCAGCTCT	0.408																																						ENST00000359959.3																			1	Substitution - coding silent(1)	p.L62L(1)	urinary_tract(1)	cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(184-186)ctT>ctG		olfactory receptor, family 2, subfamily L, member 3							333.0	313.0	320.0					1																	248224169		2203	4297	6500	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224169T>G	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.186T>G	1.37:g.248224169T>G						OR2L13_ENST00000366478.2_Intron	p.L62L	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	186	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		62					B9EH44	Silent	SNP	ENST00000359959.3	37	c.186T>G	CCDS31104.1																																																																																				0.408	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		4	295	0	0	0	1	0	4	295				
TMEM143	55260	broad.mit.edu	37	19	48845943	48845943	+	Silent	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr19:48845943C>T	ENST00000293261.3	-	6	1135	c.819G>A	c.(817-819)acG>acA	p.T273T	TMEM143_ENST00000435956.3_Silent_p.T238T|TMEM143_ENST00000541566.1_Silent_p.T163T|TMEM143_ENST00000436660.2_Silent_p.T208T|TMEM143_ENST00000377431.2_Silent_p.T173T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	273					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCAGGGTGGGCGTGCGCACCT	0.642																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(817-819)acG>acA		transmembrane protein 143							58.0	48.0	51.0					19																	48845943		2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48845943C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.819G>A	19.37:g.48845943C>T						TMEM143_ENST00000435956.3_Silent_p.T238T|TMEM143_ENST00000377431.2_Silent_p.T173T|TMEM143_ENST00000541566.1_Silent_p.T163T|TMEM143_ENST00000436660.2_Silent_p.T208T	p.T273T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	6	1135	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	273					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.819G>A	CCDS12716.1																																																																																				0.642	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		6	16	0	0	0	1	0	6	16				
GPR158	57512	broad.mit.edu	37	10	25887198	25887198	+	Silent	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:25887198C>T	ENST00000376351.3	+	11	3002	c.2643C>T	c.(2641-2643)agC>agT	p.S881S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	881					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGTCAGCAAGCGCTCACAACC	0.502																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2641-2643)agC>agT		G protein-coupled receptor 158							93.0	95.0	94.0					10																	25887198		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887198C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2643C>T	10.37:g.25887198C>T						GPR158_ENST00000490549.1_3'UTR	p.S881S	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3002	+			881					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.2643C>T	CCDS31166.1																																																																																				0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		24	69	0	0	0	1	0	24	69				
FIG4	9896	broad.mit.edu	37	6	110081568	110081568	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:110081568T>G	ENST00000230124.3	+	11	1377	c.1253T>G	c.(1252-1254)aTg>aGg	p.M418R	FIG4_ENST00000441478.2_Missense_Mutation_p.M141R	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	418	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CCCTGGGACATGGCCAAGTAT	0.408																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(1252-1254)aTg>aGg		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							186.0	149.0	162.0					6																	110081568		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110081568T>G	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1253T>G	6.37:g.110081568T>G	ENSP00000230124:p.Met418Arg					FIG4_ENST00000441478.2_Missense_Mutation_p.M141R	p.M418R	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	11	1377	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	418			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1253T>G	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128044	0.77549	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.58210	0.35;0.35	5.49	5.49	0.81192	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.988;1.0	T	0.81543	-0.0885	10	0.87932	D	0	-31.1626	15.5902	0.76521	0.0:0.0:0.0:1.0	.	141;418	F5H8L9;Q92562	.;FIG4_HUMAN	R	141;418	ENSP00000399443:M141R;ENSP00000230124:M418R	ENSP00000230124:M418R	M	+	2	0	FIG4	110188261	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.081000	0.62600	0.460000	0.39030	ATG		0.408	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		4	62	0	0	0	1	0	4	62				
NDST3	9348	broad.mit.edu	37	4	119059263	119059263	+	Missense_Mutation	SNP	G	G	A	rs150758016	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:119059263G>A	ENST00000296499.5	+	5	1682	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	NDST3_ENST00000433996.2_Missense_Mutation_p.V346I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	427	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.V427I(3)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTCGGGCGTCTACCCTGT	0.468																																						ENST00000296499.5																			3	Substitution - Missense(3)	p.V427I(3)	lung(2)|large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1279-1281)Gtc>Atc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3		G	ILE/VAL	0,4406		0,0,2203	102.0	98.0	100.0		1279	5.4	1.0	4	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	missense	NDST3	NM_004784.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	427/874	119059263	2,13004	2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059263G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1279G>A	4.37:g.119059263G>A	ENSP00000296499:p.Val427Ile					NDST3_ENST00000433996.2_Missense_Mutation_p.V346I	p.V427I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			5	1682	+			427			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1279G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685475	0.88639	0.0	2.33E-4	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.53857	0.88;0.6	5.39	5.39	0.77823	.	0.114616	0.64402	D	0.000018	T	0.70272	0.3205	M	0.68317	2.08	0.43724	D	0.996204	D;D	0.62365	0.987;0.991	P;P	0.62885	0.826;0.908	T	0.71567	-0.4554	10	0.54805	T	0.06	.	19.1484	0.93477	0.0:0.0:1.0:0.0	.	346;427	B4DI67;O95803	.;NDST3_HUMAN	I	427;346	ENSP00000296499:V427I;ENSP00000396625:V346I	ENSP00000296499:V427I	V	+	1	0	NDST3	119278711	1.000000	0.71417	0.986000	0.45419	0.630000	0.37929	9.778000	0.99011	2.519000	0.84933	0.557000	0.71058	GTC		0.468	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		24	44	0	0	0	1	0	24	44				
DPYSL5	56896	broad.mit.edu	37	2	27147850	27147850	+	Silent	SNP	G	G	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:27147850G>A	ENST00000288699.6	+	3	515	c.357G>A	c.(355-357)ctG>ctA	p.L119L	DPYSL5_ENST00000401478.1_Silent_p.L119L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	119					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGAGGTCTGGCCGACCCCA	0.617																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(355-357)ctG>ctA		dihydropyrimidinase-like 5							99.0	85.0	90.0					2																	27147850		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27147850G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.357G>A	2.37:g.27147850G>A						DPYSL5_ENST00000401478.1_Silent_p.L119L	p.L119L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			3	515	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		119					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.357G>A	CCDS1730.1																																																																																				0.617	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		9	13	0	0	0	1	0	9	13				
IRAK3	11213	broad.mit.edu	37	12	66620595	66620595	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr12:66620595T>A	ENST00000261233.4	+	7	1167	c.746T>A	c.(745-747)cTt>cAt	p.L249H	IRAK3_ENST00000457197.2_Missense_Mutation_p.L188H	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AATGGAACACTTTTTGACAGA	0.418																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(745-747)cTt>cAt		interleukin-1 receptor-associated kinase 3							167.0	150.0	156.0					12																	66620595		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66620595T>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.746T>A	12.37:g.66620595T>A	ENSP00000261233:p.Leu249His					IRAK3_ENST00000457197.2_Missense_Mutation_p.L188H	p.L249H	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	7	1167	+			249			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.746T>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653817	0.47362	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.71222	-0.55;-0.55	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.89770	0.6811	H	0.98333	4.205	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.99	D	0.92946	0.6376	9	.	.	.	-22.0585	12.6654	0.56840	0.0:0.0:0.0:1.0	.	188;249	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	H	249;188	ENSP00000261233:L249H;ENSP00000409852:L188H	.	L	+	2	0	IRAK3	64906862	1.000000	0.71417	0.997000	0.53966	0.055000	0.15305	4.472000	0.60189	2.308000	0.77769	0.533000	0.62120	CTT		0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			11	21	0	0	0	1	0	11	21				
KANSL3	55683	broad.mit.edu	37	2	97276875	97276875	+	Splice_Site	SNP	C	C	G	rs532815065		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:97276875C>G	ENST00000431828.1	-	10	1163	c.1087G>C	c.(1087-1089)Gtg>Ctg	p.V363L	KANSL3_ENST00000441706.2_Splice_Site_p.V276L|KANSL3_ENST00000599854.1_Splice_Site_p.V276L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Splice_Site_p.V157L			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	363					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ATTACTGACACCTGTAAATAA	0.498																																						ENST00000599854.1																			0											c.e10-1		KAT8 regulatory NSL complex subunit 3							128.0	129.0	129.0					2																	97276875		2067	4197	6264	SO:0001630	splice_region_variant	55683							g.chr2:97276875C>G	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1087-1G>C	2.37:g.97276875C>G						KANSL3_ENST00000431828.1_Splice_Site_p.V363_splice|KANSL3_ENST00000441706.2_Splice_Site_p.V276_splice|KANSL3_ENST00000440133.1_Splice_Site_p.V157_splice|KANSL3_ENST00000487070.1_5'UTR	p.V276_splice	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			10	1293	-			363					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Splice_Site	SNP	ENST00000431828.1	37	c.825_splice	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801738	0.70682	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.18338	2.22;2.22;2.22	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.69078	0.997;0.99;0.996;0.99	D;D;D;D	0.80764	0.994;0.98;0.99;0.986	T	0.08249	-1.0731	10	0.41790	T	0.15	.	16.0044	0.80349	0.0:1.0:0.0:0.0	.	157;363;276;251	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	L	276;251;363;276;157;157;276	ENSP00000396749:V363L;ENSP00000400678:V276L;ENSP00000406207:V157L	ENSP00000346144:V276L	V	-	1	0	KIAA1310	96640602	1.000000	0.71417	0.998000	0.56505	0.714000	0.41099	5.967000	0.70403	2.648000	0.89879	0.462000	0.41574	GTG		0.498	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	Missense_Mutation	10	38	0	0	0	1	0	10	38				
CAMK4	814	broad.mit.edu	37	5	110819729	110819729	+	Silent	SNP	G	G	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr5:110819729G>A	ENST00000282356.4	+	11	1385	c.987G>A	c.(985-987)gcG>gcA	p.A329A	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.A329A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	329	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCAGGCAGCGGTGAAGGCTG	0.547																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(985-987)gcG>gcA		calcium/calmodulin-dependent protein kinase IV							33.0	35.0	34.0					5																	110819729		2202	4299	6501	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819729G>A	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.987G>A	5.37:g.110819729G>A						CAMK4_ENST00000512453.1_Silent_p.A329A|CAMK4_ENST00000512890.1_3'UTR	p.A329A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1385	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	329			Calmodulin-binding (Potential).		D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.987G>A	CCDS4103.1																																																																																				0.547	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		18	19	0	0	0	1	0	18	19				
CEMIP	57214	broad.mit.edu	37	15	81224300	81224300	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr15:81224300G>A	ENST00000394685.3	+	22	3132	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	KIAA1199_ENST00000356249.5_Missense_Mutation_p.A905T|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A905T|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		905					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCACACCAGCGCCCTGGCCTT	0.552																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2713-2715)Gcc>Acc		KIAA1199							86.0	97.0	93.0					15																	81224300		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81224300G>A																												ENST00000394685.3:c.2713G>A	15.37:g.81224300G>A	ENSP00000378177:p.Ala905Thr					RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A905T|KIAA1199_ENST00000356249.5_Missense_Mutation_p.A905T	p.A905T			Q8WUJ3	K1199_HUMAN			22	3132	+			905					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2713G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	35	5.540067	0.96474	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	5.2	0.72013	Pectin lyase fold/virulence factor (1);	0.060118	0.64402	D	0.000004	T	0.76905	0.4053	M	0.83774	2.66	0.53688	D	0.999976	D	0.69078	0.997	P	0.54238	0.746	T	0.80367	-0.1412	10	0.59425	D	0.04	-40.4005	18.9274	0.92550	0.0:0.0:1.0:0.0	.	905	Q8WUJ3	K1199_HUMAN	T	905	ENSP00000220244:A905T;ENSP00000378177:A905T;ENSP00000348583:A905T	ENSP00000220244:A905T	A	+	1	0	KIAA1199	79011355	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.736000	0.91554	2.709000	0.92574	0.563000	0.77884	GCC		0.552	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			36	81	0	0	0	1	0	36	81				
KMT2E	55904	broad.mit.edu	37	7	104750743	104750743	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr7:104750743G>T	ENST00000311117.3	+	24	4317	c.3772G>T	c.(3772-3774)Gtg>Ttg	p.V1258L	KMT2E_ENST00000334914.7_Missense_Mutation_p.V313L|KMT2E_ENST00000257745.4_Missense_Mutation_p.V1258L|KMT2E_ENST00000334877.4_Missense_Mutation_p.V1258L|SRPK2_ENST00000493638.1_5'Flank	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1258					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTCAACTTCAGTGGAACAAGT	0.378																																						ENST00000334877.4																			0											c.(3772-3774)Gtg>Ttg		lysine (K)-specific methyltransferase 2E							117.0	119.0	118.0					7																	104750743		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104750743G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3772G>T	7.37:g.104750743G>T	ENSP00000312379:p.Val1258Leu					KMT2E_ENST00000257745.4_Missense_Mutation_p.V1258L|KMT2E_ENST00000311117.3_Missense_Mutation_p.V1258L|KMT2E_ENST00000334914.7_Missense_Mutation_p.V313L	p.V1258L							24	4306	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.3772G>T	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.820609|4.820609	0.90873|0.90873	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000473063|ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	.|D;D;D;T	.|0.97066	.|-4.23;-3.61;-4.23;-0.15	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.97331|0.97331	0.9127|0.9127	L|L	0.32530|0.32530	0.975|0.975	0.52501|0.52501	D|D	0.999957|0.999957	.|D	.|0.64830	.|0.994	.|D	.|0.72625	.|0.978	D|D	0.98501|0.98501	1.0614|1.0614	6|10	0.72032|0.66056	D|D	0.01|0.02	.|.	18.8917|18.8917	0.92407|0.92407	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1258	.|Q8IZD2	.|MLL5_HUMAN	I|L	69|1258;1258;1258;1178;1258;313	.|ENSP00000312379:V1258L;ENSP00000335599:V1258L;ENSP00000257745:V1258L;ENSP00000333986:V313L	ENSP00000417156:S69I|ENSP00000257745:V1258L	S|V	+|+	2|1	0|0	MLL5|MLL5	104537979|104537979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	8.648000|8.648000	0.91062|0.91062	2.468000|2.468000	0.83385|0.83385	0.561000|0.561000	0.74099|0.74099	AGT|GTG		0.378	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			8	61	1	0	0.00448238	1	0.00460689	8	61				
CECR5	27440	broad.mit.edu	37	22	17621968	17621968	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr22:17621968C>T	ENST00000336737.4	-	6	752	c.727G>A	c.(727-729)Gct>Act	p.A243T	CECR5_ENST00000155674.5_Missense_Mutation_p.A213T|CECR5_ENST00000399852.3_Missense_Mutation_p.A106T	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	243						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGGCTTCAGCCATCCACAGG	0.632																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(727-729)Gct>Act		cat eye syndrome chromosome region, candidate 5							52.0	53.0	53.0					22																	17621968		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17621968C>T	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.727G>A	22.37:g.17621968C>T	ENSP00000337358:p.Ala243Thr					CECR5_ENST00000155674.5_Missense_Mutation_p.A213T|CECR5_ENST00000399852.3_Missense_Mutation_p.A106T	p.A243T	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			6	752	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	243					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.727G>A	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065712	0.93898	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.25749	1.78;1.78;1.78	5.28	5.28	0.74379	HAD-like domain (1);	0.105124	0.64402	D	0.000005	T	0.41743	0.1172	L	0.42008	1.315	0.53005	D	0.999965	P;D;D;D	0.89917	0.733;1.0;0.996;0.997	P;D;D;D	0.74348	0.525;0.983;0.916;0.972	T	0.08106	-1.0738	10	0.11485	T	0.65	-15.7789	18.8971	0.92427	0.0:1.0:0.0:0.0	.	213;106;243;107	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	T	213;243;106	ENSP00000155674:A213T;ENSP00000337358:A243T;ENSP00000382745:A106T	ENSP00000155674:A213T	A	-	1	0	CECR5	16001968	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.364000	0.79526	2.471000	0.83476	0.655000	0.94253	GCT		0.632	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		3	36	0	0	0	1	0	3	36				
SAMD11	148398	broad.mit.edu	37	1	877557	877557	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:877557delC	ENST00000342066.3	+	9	994	c.911delC	c.(910-912)gccfs	p.A304fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	304					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCGCAGAATGCCCCTCACGTC	0.736																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(910-912)gcfs		sterile alpha motif domain containing 11							5.0	7.0	6.0					1																	877557		2027	4059	6086	SO:0001589	frameshift_variant	148398					nucleus		g.chr1:877557delC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.911delC	1.37:g.877557delC	ENSP00000342313:p.Ala304fs						p.A304fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	9	994	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	304					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Del	DEL	ENST00000342066.3	37	c.911delC	CCDS2.2																																																																																				0.736	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		2	4						2	4	---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190531908	190531910	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:190531908_190531910delTCT	ENST00000260952.4	+	4	1463_1465	c.1050_1052delTCT	c.(1048-1053)gatctt>gat	p.L352del	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	352	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AACCAATTGATCTTCTTAATGTA	0.369																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1048-1053)gat>ga		asparagine synthetase domain containing 1																																				SO:0001651	inframe_deletion	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531908_190531910delTCT	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1050_1052delTCT	2.37:g.190531911_190531913delTCT	ENSP00000260952:p.Leu352del					ASNSD1_ENST00000607062.1_Intron	p.DL350del	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1463_1465	+			350			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	In_Frame_Del	DEL	ENST00000260952.4	37	c.1050_1052delTCT	CCDS2300.1																																																																																				0.369	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		27	97						27	97	---	---	---	---
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	lincRNA	DEL	TTTG	TTTG	-	rs141045634	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451														576	0.115016	0.0318	0.1974	5008	,	,		25388	0.0982		0.169	False		,,,				2504	0.1309					ENST00000522554.1																			0																																																			0							g.chr4:185536410_185536413delTTTG																													4.37:g.185536418_185536421delTTTG														0	292	-									RNA	DEL	ENST00000522554.1	37																																																																																						0.451	RP11-242J7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374071.1			3	3						3	3	---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35145789	35145793	+	RNA	DEL	CTAAA	CTAAA	-	rs201156272|rs76141590	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr7:35145789_35145793delCTAAA	ENST00000436258.1	-	0	1553_1557							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTGACTATCTCTAAACTACTTAGGA	0.19														397	0.0792732	0.0295	0.0692	5008	,	,		16112	0.0675		0.1024	False		,,,				2504	0.1421					ENST00000436258.1																			0																																																			0							g.chr7:35145789_35145793delCTAAA	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35145789_35145793delCTAAA														0	1553_1557	-								B4E2E3	RNA	DEL	ENST00000436258.1	37																																																																																						0.190	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			3	5						3	5	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77473916	77473918	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr15:77473916_77473918delTTG	ENST00000560626.2	-	4	826_828	c.351_353delCAA	c.(349-354)aacaat>aat	p.117_118NN>N	PEAK1_ENST00000312493.4_In_Frame_Del_p.117_118NN>N|PEAK1_ENST00000558305.1_In_Frame_Del_p.117_118NN>N			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	117	Poly-Asn.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTCATTATTATTGTTAAGTGGTT	0.389																																						ENST00000560626.2																			0											c.(349-354)aat>aa		pseudopodium-enriched atypical kinase 1																																				SO:0001651	inframe_deletion	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473916_77473918delTTG		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.351_353delCAA	15.37:g.77473916_77473918delTTG	ENSP00000452796:p.Asn120del					PEAK1_ENST00000312493.4_In_Frame_Del_p.NN119del|PEAK1_ENST00000558305.1_In_Frame_Del_p.NN119del	p.NN119del			Q9H792	PEAK1_HUMAN			4	826_828	-			119			Poly-Asn.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	In_Frame_Del	DEL	ENST00000560626.2	37	c.351_353delCAA	CCDS42062.1																																																																																				0.389	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			35	131						35	131	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	79576	79581	+	RNA	DEL	GTTGTT	GTTGTT	-	rs542183765	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:79576_79581delGTTGTT	ENST00000568710.1	-	0	434																											AGGCACAGTAGTtgttgttgttgctg	0.641																																						ENST00000568710.1																			0																																																			0							g.chr16:79576_79581delGTTGTT																													16.37:g.79582_79587delGTTGTT														0	434	-									RNA	DEL	ENST00000568710.1	37																																																																																						0.641	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			3	4						3	4	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21082111	21082111	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:21082111delT	ENST00000261383.3	-	22	3120	c.3121delA	c.(3121-3123)atgfs	p.M1041fs	DNAH3_ENST00000415178.1_Frame_Shift_Del_p.M1041fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1041	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAAGTAGCATTTGAATGTCA	0.408																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3121-3123)tgfs		dynein, axonemal, heavy chain 3							205.0	179.0	188.0					16																	21082111		2201	4300	6501	SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21082111delT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3121delA	16.37:g.21082111delT	ENSP00000261383:p.Met1041fs					DNAH3_ENST00000415178.1_Frame_Shift_Del_p.M1041fs	p.M1041fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3120	-			1041			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Del	DEL	ENST00000261383.3	37	c.3121delA	CCDS10594.1																																																																																				0.408	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		30	77						30	77	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433																																						ENST00000429810.2																			0																																																			0							g.chr16:74372914delG																													16.37:g.74372914delG														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.433	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	3						3	3	---	---	---	---
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090681	58090681	+	lincRNA	DEL	T	T	-	rs201638373		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:58090681delT	ENST00000407042.3	-	0	609									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		CTCTGAATGATTTTTTTTTTT	0.458																																						ENST00000407042.3																			0																																																			0							g.chr17:58090681delT			17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58090681delT														0	609	-									RNA	DEL	ENST00000407042.3	37																																																																																						0.458	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	lincRNA		NR_002924		3	5						3	5	---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62130676	62130676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:62130676delT	ENST00000433197.3	-	16	2104	c.2009delA	c.(2008-2010)cagfs	p.Q671fs		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGTGGTCTGCTGCAGCAAGGT	0.612																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2008-2010)cgfs		endoplasmic reticulum to nucleus signaling 1							62.0	68.0	66.0					17																	62130676		2079	4225	6304	SO:0001589	frameshift_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62130676delT	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2009delA	17.37:g.62130676delT	ENSP00000401445:p.Gln671fs						p.Q671fs	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			16	2104	-			671			Protein kinase.			Frame_Shift_Del	DEL	ENST00000433197.3	37	c.2009delA	CCDS45762.1																																																																																				0.612	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		13	37						13	37	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962650	34962652	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chrX:34962650_34962652delATT	ENST00000329357.5	+	1	1738_1740	c.1702_1704delATT	c.(1702-1704)attdel	p.I568del		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	568										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGAACCTTTGATTGACCCCAAGC	0.463																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1702-1704)del		family with sequence similarity 47, member B																																				SO:0001651	inframe_deletion	170062							g.chrX:34962650_34962652delATT	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1702_1704delATT	X.37:g.34962650_34962652delATT	ENSP00000328307:p.Ile568del						p.I568del	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1738_1740	+			568					Q5JQN5|Q6PIG3	In_Frame_Del	DEL	ENST00000329357.5	37	c.1702_1704delATT	CCDS14236.1																																																																																				0.463	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		49	30						49	30	---	---	---	---
