#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
NRXN3	9369	broad.mit.edu	37	14	79933743	79933743	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr14:79933743A>T	ENST00000557594.1	+	2	1380	c.427A>T	c.(427-429)Ata>Tta	p.I143L	NRXN3_ENST00000281127.7_Missense_Mutation_p.I143L|NRXN3_ENST00000554719.1_Missense_Mutation_p.I775L|NRXN3_ENST00000428277.2_Missense_Mutation_p.I143L|NRXN3_ENST00000335750.5_Missense_Mutation_p.I775L|NRXN3_ENST00000556003.1_3'UTR	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	143	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCAGCTTCACATAGTGAGTAC	0.512																																						uc001xun.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(2323-2325)Ata>Tta		Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.							87.0	77.0	80.0					14																	79933743		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79933743A>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.427A>T	14.37:g.79933743A>T	ENSP00000451672:p.Ile143Leu					NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.I143L|NRXN3_uc010asw.3_Missense_Mutation_p.I143L|NRXN3_uc001xur.4_Missense_Mutation_p.I143L	p.I775L	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	12	2814	+		Renal(4;0.00876)	143					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.2323A>T		.	.	.	.	.	.	.	.	.	.	A	29.4	5.001254	0.93227	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.71579	-0.11;-0.11;-0.58;-0.58;-0.58	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	L	0.58925	1.835	0.58432	D	0.999999	B;B;P;B	0.47191	0.006;0.143;0.891;0.029	B;B;D;P	0.71414	0.22;0.228;0.973;0.559	T	0.80362	-0.1414	9	.	.	.	.	16.3721	0.83368	1.0:0.0:0.0:0.0	.	143;143;143;775	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	L	1148;1137;775;775;143;143;143	ENSP00000451648:I775L;ENSP00000338349:I775L;ENSP00000451672:I143L;ENSP00000281127:I143L;ENSP00000394426:I143L	.	I	+	1	0	NRXN3	79003496	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.324000	0.96373	2.257000	0.74773	0.533000	0.62120	ATA		0.512	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		20	93	0	0	0	1	0	20	93				
MAGI3	260425	broad.mit.edu	37	1	114196558	114196558	+	Silent	SNP	C	C	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:114196558C>A	ENST00000307546.9	+	15	2622	c.2547C>A	c.(2545-2547)ccC>ccA	p.P849P	MAGI3_ENST00000369617.4_Silent_p.P874P|MAGI3_ENST00000369615.1_Silent_p.P849P|MAGI3_ENST00000369611.4_Silent_p.P849P	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	874					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAGGAGCCCTATGATGTTG	0.522																																						uc001edk.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2545-2547)ccC>ccA		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							202.0	214.0	210.0					1																	114196558		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114196558C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2547C>A	1.37:g.114196558C>A						MAGI3_uc001edh.3_Silent_p.P874P|MAGI3_uc001edi.4_Silent_p.P849P|MAGI3_uc010owm.2_Silent_p.P874P|MAGI3_uc001edj.3_Silent_p.P570P	p.P849P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2728	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	874					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2547C>A	CCDS44196.1																																																																																				0.522	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		5	429	0	0	0	1	0	5	429				
AGO2	27161	broad.mit.edu	37	8	141549494	141549494	+	Silent	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:141549494G>A	ENST00000220592.5	-	16	2206	c.2094C>T	c.(2092-2094)taC>taT	p.Y698Y	AGO2_ENST00000519980.1_Silent_p.Y698Y	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	698	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TCCCGGGCTGGTAGTCTTTTT	0.557																																						uc003yvn.3																			0				NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2092-2094)taC>taT		Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.							105.0	92.0	96.0					8																	141549494		2203	4300	6503	SO:0001819	synonymous_variant	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity	g.chr8:141549494G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2094C>T	8.37:g.141549494G>A						EIF2C2_uc010meo.3_Silent_p.Y698Y|EIF2C2_uc010men.3_Silent_p.Y621Y	p.Y698Y	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		15	2135	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	698			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.2094C>T	CCDS6380.1																																																																																				0.557	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			11	105	0	0	0	1	0	11	105				
BTN2A1	11120	broad.mit.edu	37	6	26465519	26465519	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr6:26465519A>T	ENST00000312541.5	+	5	1067	c.819A>T	c.(817-819)caA>caT	p.Q273H	BTN2A1_ENST00000541522.1_Missense_Mutation_p.Q212H|BTN2A1_ENST00000469185.1_Missense_Mutation_p.Q273H|BTN2A1_ENST00000429381.1_Missense_Mutation_p.Q273H	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	273					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ACAAACTCCAAAAGGAAAAAA	0.433																																						uc003nib.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(817-819)caA>caT		Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.							136.0	138.0	137.0					6																	26465519		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465519A>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.819A>T	6.37:g.26465519A>T	ENSP00000312158:p.Gln273His					BTN2A1_uc021yni.1_Missense_Mutation_p.Q273H|BTN2A1_uc003nic.2_Missense_Mutation_p.Q273H|BTN2A1_uc011dko.2_Missense_Mutation_p.Q212H	p.Q273H	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN			4	1067	+			273					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.819A>T	CCDS4613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.771|5.771	0.326684|0.326684	0.10900|0.10900	.|.	.|.	ENSG00000112763|ENSG00000112763	ENST00000480218|ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.|T;T;T;T	.|0.76839	.|-0.49;1.09;-1.05;-1.03	3.78|3.78	-5.26|-5.26	0.02772|0.02772	.|.	.|0.454507	.|0.18608	.|N	.|0.136232	T|T	0.32346|0.32346	0.0826|0.0826	L|L	0.41356|0.41356	1.27|1.27	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.0;0.0;0.001	.|B;B;B	.|0.06405	.|0.001;0.002;0.001	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.15066	.|T	.|0.55	.|.	1.9264|1.9264	0.03318|0.03318	0.138:0.272:0.1269:0.4631|0.138:0.272:0.1269:0.4631	.|.	.|212;273;273	.|B4DLP9;Q96AV7;Q7KYR7	.|.;.;BT2A1_HUMAN	I|H	22|273;212;273;259;273	.|ENSP00000312158:Q273H;ENSP00000443909:Q212H;ENSP00000416945:Q273H;ENSP00000419043:Q273H	.|ENSP00000265424:Q259H	K|Q	+|+	2|3	0|2	BTN2A1|BTN2A1	26573498|26573498	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	-2.644000|-2.644000	0.00862|0.00862	-1.504000|-1.504000	0.01810|0.01810	-0.714000|-0.714000	0.03626|0.03626	AAA|CAA		0.433	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		11	166	0	0	0	1	0	11	166				
MYO18A	399687	broad.mit.edu	37	17	27425124	27425124	+	Splice_Site	SNP	T	T	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr17:27425124T>G	ENST00000527372.1	-	25	4169	c.3989A>C	c.(3988-3990)cAg>cCg	p.Q1330P	MYO18A_ENST00000531253.1_Splice_Site_p.Q1330P|MYO18A_ENST00000533112.1_Splice_Site_p.Q1330P|MYO18A_ENST00000354329.4_Splice_Site_p.Q1330P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1330					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCCCTCACCTGCAGTTCCTT	0.612																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.e25+1		Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.							113.0	125.0	121.0					17																	27425124		2159	4251	6410	SO:0001630	splice_region_variant	399687				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27425124T>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3990+1A>C	17.37:g.27425124T>G						MYO18A_uc010wbc.1_Splice_Site_p.Q872_splice|MYO18A_uc002hds.2_Splice_Site_p.Q872_splice|MYO18A_uc010csa.1_Splice_Site_p.Q1330_splice|MYO18A_uc002hdu.1_Splice_Site_p.Q1330_splice|MYO18A_uc010wbd.1_Splice_Site_p.Q999_splice	p.Q1330_splice	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		25	4148	-			1330					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Splice_Site	SNP	ENST00000527372.1	37	c.3990_splice	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021704	0.75275	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.88818	-1.16;-2.43;-1.16;-1.16	5.36	5.36	0.76844	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	M	0.81802	2.56	0.51012	D	0.999902	P;P;P;P;D	0.53312	0.813;0.937;0.937;0.937;0.959	P;P;P;P;P	0.53006	0.715;0.626;0.504;0.504;0.681	D	0.93169	0.6564	10	0.56958	D	0.05	.	15.6464	0.77055	0.0:0.0:0.0:1.0	.	999;942;1330;1330;1330	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	P	1330;1330;1330;1330;1330;226;226;942	ENSP00000346291:Q1330P;ENSP00000435932:Q1330P;ENSP00000434228:Q1330P;ENSP00000437073:Q1330P	ENSP00000346291:Q1330P	Q	-	2	0	MYO18A	24449250	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.511000	0.81718	2.157000	0.67596	0.533000	0.62120	CAG		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	Missense_Mutation	10	249	0	0	0	1	0	10	249				
PM20D1	148811	broad.mit.edu	37	1	205814502	205814502	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:205814502T>C	ENST00000367136.4	-	3	484	c.440A>G	c.(439-441)gAt>gGt	p.D147G	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	147					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGATGCCATCACGCTCCAA	0.567																																						uc001hdj.3																			0		p.R146C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(439-441)gAt>gGt		Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.							105.0	100.0	101.0					1																	205814502		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205814502T>C		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.440A>G	1.37:g.205814502T>C	ENSP00000356104:p.Asp147Gly					PM20D1_uc009xbr.3_Non-coding_Transcript	p.D147G	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	516	-	Breast(84;0.201)		147					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.440A>G	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	T	9.945	1.218526	0.22373	.	.	ENSG00000162877	ENST00000367136	T	0.09538	2.97	6.04	4.91	0.64330	.	0.344279	0.36519	N	0.002557	T	0.11239	0.0274	L	0.41027	1.25	0.32759	N	0.505402	B	0.31581	0.329	B	0.36766	0.232	T	0.13980	-1.0489	10	0.19590	T	0.45	.	11.9696	0.53055	0.0:0.0681:0.0:0.9319	.	147	Q6GTS8	P20D1_HUMAN	G	147	ENSP00000356104:D147G	ENSP00000356104:D147G	D	-	2	0	PM20D1	204081125	1.000000	0.71417	0.868000	0.34077	0.000000	0.00434	4.587000	0.60991	1.102000	0.41551	-0.441000	0.05720	GAT		0.567	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		4	172	0	0	0	1	0	4	172				
ATP13A4	84239	broad.mit.edu	37	3	193120598	193120598	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr3:193120598T>C	ENST00000342695.4	-	30	3756	c.3434A>G	c.(3433-3435)tAt>tGt	p.Y1145C	ATP13A4_ENST00000400270.2_Missense_Mutation_p.Y161C|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y1126C|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1145						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTTGACTGATAGCCGAAACA	0.443																																						uc003ftd.3																			0		p.G1144D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3433-3435)tAt>tGt		Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.							82.0	80.0	80.0					3																	193120598		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193120598T>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3434A>G	3.37:g.193120598T>C	ENSP00000339182:p.Tyr1145Cys					ATP13A4_uc010hzi.3_Non-coding_Transcript	p.Y1145C	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	29	3542	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1145					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3434A>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322831	0.23994	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.59502	0.26;0.26;0.26	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000013	T	0.47173	0.1431	L	0.29908	0.895	0.80722	D	1	B	0.18166	0.026	B	0.23419	0.046	T	0.40496	-0.9560	10	0.39692	T	0.17	-22.3835	13.5323	0.61629	0.0:0.0:0.0:1.0	.	1145	Q4VNC1	AT134_HUMAN	C	161;1126;1145	ENSP00000383129:Y161C;ENSP00000376238:Y1126C;ENSP00000339182:Y1145C	ENSP00000339182:Y1145C	Y	-	2	0	ATP13A4	194603292	0.983000	0.35010	0.990000	0.47175	0.211000	0.24417	1.675000	0.37555	2.136000	0.66102	0.486000	0.48141	TAT		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		3	71	0	0	0	1	0	3	71				
TM2D3	80213	broad.mit.edu	37	15	102182710	102182710	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:102182710C>T	ENST00000333202.3	-	6	721	c.716G>A	c.(715-717)gGa>gAa	p.G239E	TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000347970.3_Missense_Mutation_p.G213E|TM2D3_ENST00000561373.1_Missense_Mutation_p.G174E|TM2D3_ENST00000428002.2_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	239						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCTGCTGGTCCAACATAGCC	0.537																																						uc002bxi.3																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(715-717)gGa>gAa		Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA.							124.0	125.0	125.0					15																	102182710		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102182710C>T	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.716G>A	15.37:g.102182710C>T	ENSP00000330433:p.Gly239Glu					TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.3_Missense_Mutation_p.G174E|TM2D3_uc002bxj.3_Missense_Mutation_p.G213E	p.G239E	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	746	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		239					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.716G>A	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705135	0.89018	.	.	ENSG00000184277	ENST00000347970;ENST00000333202	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.988;0.992	T	0.80238	-0.1465	9	0.72032	D	0.01	-19.4518	16.8956	0.86099	0.0:1.0:0.0:0.0	.	213;239	Q9BRN9-2;Q9BRN9	.;TM2D3_HUMAN	E	213;239	.	ENSP00000330433:G239E	G	-	2	0	TM2D3	100000233	1.000000	0.71417	0.992000	0.48379	0.860000	0.49131	7.546000	0.82137	2.660000	0.90430	0.643000	0.83706	GGA		0.537	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		8	178	0	0	0	1	0	8	178				
NADK	65220	broad.mit.edu	37	1	1686902	1686902	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:1686902G>A	ENST00000341426.5	-	7	820	c.599C>T	c.(598-600)cCg>cTg	p.P200L	NADK_ENST00000341991.3_Missense_Mutation_p.P200L|NADK_ENST00000378625.1_Missense_Mutation_p.P345L|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000342348.5_Missense_Mutation_p.P168L|NADK_ENST00000344463.4_Missense_Mutation_p.P345L	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	200					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCATGACCGGAGGGACGCT	0.617																																						uc001aie.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1033-1035)cCg>cTg		Homo sapiens NAD kinase (NADK), transcript variant 3, mRNA.							133.0	133.0	133.0					1																	1686902		2203	4300	6503	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding	g.chr1:1686902G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.599C>T	1.37:g.1686902G>A	ENSP00000341679:p.Pro200Leu					NADK_uc001aic.3_Missense_Mutation_p.P200L|NADK_uc001aid.4_Missense_Mutation_p.P200L|NADK_uc010nyv.2_Missense_Mutation_p.P168L|NADK_uc009vkx.1_Missense_Mutation_p.P78L	p.P345L	NM_001198994	NP_001185923	O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	8	1239	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	200					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.1034C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348749	0.82132	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.11	4.2	0.49525	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	H	0.94771	3.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88917	0.3363	10	0.87932	D	0	-29.967	12.5913	0.56445	0.082:0.0:0.918:0.0	.	168;345;345;200	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	L	200;200;345;345;168;168	ENSP00000341679:P200L;ENSP00000344340:P200L;ENSP00000367890:P345L;ENSP00000340925:P345L;ENSP00000339727:P168L;ENSP00000383713:P168L	ENSP00000341679:P200L	P	-	2	0	NADK	1676762	1.000000	0.71417	0.956000	0.39512	0.811000	0.45836	9.385000	0.97223	1.289000	0.44618	0.462000	0.41574	CCG		0.617	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		4	195	0	0	0	1	0	4	195				
CD48	962	broad.mit.edu	37	1	160651146	160651146	+	Silent	SNP	A	A	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:160651146A>G	ENST00000368046.3	-	3	585	c.498T>C	c.(496-498)taT>taC	p.Y166Y	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	166	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTTTGTCCCCATACCAGGTGT	0.448																																						uc001fwo.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(496-498)taT>taC		Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.							171.0	158.0	162.0					1																	160651146		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651146A>G	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.498T>C	1.37:g.160651146A>G						CD48_uc001fwn.3_Silent_p.Y166Y	p.Y166Y	NM_001778	NP_001769	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	530	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		166			Ig-like C2-type 2.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.498T>C	CCDS1208.1																																																																																				0.448	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	230	0	0	0	1	0	4	230				
ZNRF4	148066	broad.mit.edu	37	19	5455622	5455622	+	Silent	SNP	G	G	A	rs370058448		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr19:5455622G>A	ENST00000222033.4	+	1	197	c.120G>A	c.(118-120)agG>agA	p.R40R		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	40						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGGCCACAGGCCCCCTGGGA	0.657																																						uc002mca.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(118-120)agG>agA		Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.		G		0,4088		0,0,2044	36.0	42.0	40.0		120	-1.3	0.1	19		40	2,8354		0,2,4176	no	coding-synonymous	ZNRF4	NM_181710.3		0,2,6220	AA,AG,GG		0.0239,0.0,0.0161		40/430	5455622	2,12442	2044	4178	6222	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5455622G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.120G>A	19.37:g.5455622G>A							p.R40R	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	0	197	+			40					A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.120G>A	CCDS42475.1																																																																																				0.657	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		4	79	0	0	0	1	0	4	79				
PCDHGA5	56110	broad.mit.edu	37	5	140745315	140745315	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr5:140745315C>G	ENST00000518069.1	+	1	1418	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	473	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATCTTCTCTGTGACAGCC	0.532																																						uc003lju.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1417-1419)tCt>tGt		Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.							120.0	129.0	126.0					5																	140745315		1963	4176	6139	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745315C>G	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1418C>G	5.37:g.140745315C>G	ENSP00000429834:p.Ser473Cys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.S473C	p.S473C	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1418	+			475			Cadherin 5.		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1418C>G	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	8.138	0.784536	0.16189	.	.	ENSG00000253485	ENST00000518069	T	0.01887	4.58	5.18	4.24	0.50183	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.05135	0.0137	L	0.58925	1.835	0.09310	N	1	P;B	0.37636	0.603;0.203	B;B	0.41135	0.348;0.288	T	0.16689	-1.0394	9	0.66056	D	0.02	.	14.5741	0.68232	0.0:0.7177:0.2823:0.0	.	473;473	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	C	473	ENSP00000429834:S473C	ENSP00000429834:S473C	S	+	2	0	PCDHGA5	140725499	0.000000	0.05858	0.820000	0.32676	0.464000	0.32679	0.182000	0.16900	2.570000	0.86706	0.563000	0.77884	TCT		0.532	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		16	275	0	0	0	1	0	16	275				
ITGB1	3688	broad.mit.edu	37	10	33215004	33215004	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr10:33215004G>C	ENST00000396033.2	-	6	716	c.581C>G	c.(580-582)cCt>cGt	p.P194R	ITGB1_ENST00000374956.4_Missense_Mutation_p.P194R|ITGB1_ENST00000423113.1_Missense_Mutation_p.P194R|ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Missense_Mutation_p.P194R	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	194	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GCTAATGTAAGGCATCACAGT	0.403																																						uc001iwr.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(580-582)cCt>cGt		Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1D, mRNA.							116.0	105.0	108.0					10																	33215004		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33215004G>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.581C>G	10.37:g.33215004G>C	ENSP00000379350:p.Pro194Arg					ITGB1_uc001iws.4_Missense_Mutation_p.P194R|ITGB1_uc001iwt.4_Missense_Mutation_p.P194R	p.P194R	NM_033668	NP_391988	P05556	ITB1_HUMAN			4	581	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	194			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.581C>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993930	0.93167	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.74	5.74	0.90152	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	H	0.96048	3.76	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.99267	1.0892	10	0.87932	D	0	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	194;194;194;194;194	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	R	194	ENSP00000379350:P194R;ENSP00000388694:P194R;ENSP00000303351:P194R;ENSP00000364094:P194R	ENSP00000303351:P194R	P	-	2	0	ITGB1	33255010	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	CCT		0.403	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		6	108	0	0	0	1	0	6	108				
MAP1A	4130	broad.mit.edu	37	15	43816306	43816306	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:43816306C>A	ENST00000300231.5	+	4	3085	c.2635C>A	c.(2635-2637)Cgt>Agt	p.R879S	MAP1A_ENST00000399453.1_Missense_Mutation_p.R879S|MAP1A_ENST00000382031.1_Missense_Mutation_p.R1117S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	879					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCTTCCTCCCGTACTGAAGC	0.562																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(2635-2637)Cgt>Agt		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						75.0	76.0	75.0					15																	43816306		2057	4211	6268	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816306C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2635C>A	15.37:g.43816306C>A	ENSP00000300231:p.Arg879Ser						p.R879S	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	3102	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	879					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.2635C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616846	0.46736	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01560	4.77;4.77;4.77	4.71	4.71	0.59529	.	.	.	.	.	T	0.07458	0.0188	M	0.78637	2.42	0.42037	D	0.991057	D	0.58620	0.983	P	0.52309	0.695	T	0.04333	-1.0959	9	0.72032	D	0.01	-7.1246	17.8619	0.88784	0.0:1.0:0.0:0.0	.	879	P78559	MAP1A_HUMAN	S	1117;879;879	ENSP00000371462:R1117S;ENSP00000382380:R879S;ENSP00000300231:R879S	ENSP00000300231:R879S	R	+	1	0	MAP1A	41603598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.432000	0.82394	0.655000	0.94253	CGT		0.562	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	109	0	0	0	1	0	5	109				
STX4	6810	broad.mit.edu	37	16	31050875	31050875	+	Missense_Mutation	SNP	A	A	G	rs562489469		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr16:31050875A>G	ENST00000313843.3	+	9	1031	c.716A>G	c.(715-717)aAt>aGt	p.N239S	STX4_ENST00000394998.1_Missense_Mutation_p.N237S|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	239	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GAGATGATCAATCGGATTGAG	0.567													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20260	0.0		0.0	False		,,,				2504	0.0					uc002eal.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(715-717)aAt>aGt		Homo sapiens syntaxin 4 (STX4), mRNA.							115.0	105.0	108.0					16																	31050875		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31050875A>G	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.716A>G	16.37:g.31050875A>G	ENSP00000317714:p.Asn239Ser					STX4_uc002eak.3_Missense_Mutation_p.N237S|STX4_uc002eam.3_Missense_Mutation_p.N161S|BC039500_uc002ean.1_5'Flank	p.N239S	NM_004604	NP_004595	Q12846	STX4_HUMAN			8	940	+			239			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.716A>G	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851002	0.71719	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.23348	1.91;1.91	6.08	6.08	0.98989	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.107189	0.64402	D	0.000004	T	0.32882	0.0844	M	0.69248	2.105	0.42692	D	0.993584	B;P	0.42456	0.334;0.78	B;B	0.40602	0.197;0.334	T	0.18178	-1.0345	10	0.87932	D	0	.	15.6264	0.76863	1.0:0.0:0.0:0.0	.	239;237	Q12846;A8MXY0	STX4_HUMAN;.	S	237;239	ENSP00000378447:N237S;ENSP00000317714:N239S	ENSP00000317714:N239S	N	+	2	0	STX4	30958376	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	8.526000	0.90588	2.333000	0.79357	0.533000	0.62120	AAT		0.567	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		7	145	0	0	0	1	0	7	145				
NBN	4683	broad.mit.edu	37	8	90958472	90958472	+	Silent	SNP	A	A	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:90958472A>G	ENST00000265433.3	-	13	2120	c.1966T>C	c.(1966-1968)Ttg>Ctg	p.L656L	NBN_ENST00000409330.1_Silent_p.L574L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	656					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATTCAGTCAATAACAGCTTT	0.318								Homologous recombination																														uc003yej.1																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1966-1968)Ttg>Ctg	Homologous recombination	Homo sapiens nibrin (NBN), mRNA.							121.0	125.0	123.0					8																	90958472		2203	4299	6502	SO:0001819	synonymous_variant	4683				DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90958472A>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1966T>C	8.37:g.90958472A>G						NBN_uc011lgb.1_Silent_p.L656L|NBN_uc003yei.1_Silent_p.L574L	p.L656L	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		12	2076	-			656					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.1966T>C	CCDS6249.1																																																																																				0.318	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		4	146	0	0	0	1	0	4	146				
ETV1	2115	broad.mit.edu	37	7	13971268	13971268	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr7:13971268G>C	ENST00000430479.1	-	9	1328	c.661C>G	c.(661-663)Ccc>Gcc	p.P221A	ETV1_ENST00000242066.5_Missense_Mutation_p.P203A|ETV1_ENST00000343495.5_Missense_Mutation_p.P203A|ETV1_ENST00000403685.1_Missense_Mutation_p.P203A|ETV1_ENST00000405192.2_Missense_Mutation_p.P221A|ETV1_ENST00000420159.2_Missense_Mutation_p.P163A|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Missense_Mutation_p.P221A|ETV1_ENST00000405358.4_Missense_Mutation_p.P235A|ETV1_ENST00000403527.1_Missense_Mutation_p.P181A|ETV1_ENST00000399357.3_Missense_Mutation_p.P118A	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	221					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGGGAAGGGGATGTTTGGC	0.552			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc021zzz.1				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(661-663)Ccc>Gcc		Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.							146.0	143.0	144.0					7																	13971268		2024	4193	6217	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971268G>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.661C>G	7.37:g.13971268G>C	ENSP00000405327:p.Pro221Ala					ETV1_uc021zzt.1_Missense_Mutation_p.P181A|ETV1_uc021zzu.1_Missense_Mutation_p.P118A|ETV1_uc021zzv.1_Missense_Mutation_p.P163A|ETV1_uc021zzw.1_Missense_Mutation_p.P181A|ETV1_uc021zzx.1_Missense_Mutation_p.P118A|ETV1_uc021zzy.1_Missense_Mutation_p.P163A|ETV1_uc022aaa.1_Missense_Mutation_p.P203A|ETV1_uc022aab.1_Missense_Mutation_p.P221A|ETV1_uc003ssw.4_Missense_Mutation_p.P221A|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P203A|ETV1_uc022aad.1_Missense_Mutation_p.P203A|ETV1_uc010ktv.3_Missense_Mutation_p.P90A	p.P221A	NM_004956	NP_004947	P50549	ETV1_HUMAN			6	748	-			221					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.661C>G	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347044	0.82022	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.051858	0.85682	D	0.000000	T	0.55273	0.1910	M	0.73598	2.24	0.80722	D	1	B;B;P;D;B;B;B;B	0.71674	0.349;0.009;0.489;0.998;0.314;0.349;0.005;0.011	B;B;B;D;B;B;B;B	0.78314	0.171;0.012;0.253;0.991;0.423;0.298;0.018;0.021	T	0.51100	-0.8748	10	0.59425	D	0.04	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	232;203;235;163;118;181;163;221	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	A	221;203;203;163;118;221;235;181;221;203;163;118	ENSP00000405327:P221A;ENSP00000242066:P203A;ENSP00000340853:P203A;ENSP00000411626:P163A;ENSP00000382293:P118A;ENSP00000385381:P221A;ENSP00000384085:P235A;ENSP00000384138:P181A;ENSP00000385551:P221A;ENSP00000385686:P203A;ENSP00000393078:P163A;ENSP00000394710:P118A	ENSP00000242066:P203A	P	-	1	0	ETV1	13937793	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.225000	0.95219	2.932000	0.99384	0.644000	0.83932	CCC		0.552	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		5	58	0	0	0	1	0	5	58				
MBOAT2	129642	broad.mit.edu	37	2	9083336	9083336	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr2:9083336T>C	ENST00000305997.3	-	3	477	c.279A>G	c.(277-279)atA>atG	p.I93M	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	93					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCCACTCCTATGATGATCA	0.318																																					Ovarian(194;1699 3813 22401)	uc002qzg.1																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(277-279)atA>atG		Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.							91.0	86.0	88.0					2																	9083336		2203	4300	6503	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9083336T>C	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.279A>G	2.37:g.9083336T>C	ENSP00000302177:p.Ile93Met					MBOAT2_uc010yix.1_Missense_Mutation_p.I93M	p.I93M	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN			2	412	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		93					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.279A>G	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272224	0.40194	.	.	ENSG00000143797	ENST00000305997;ENST00000462696	T	0.10288	2.89	4.62	2.2	0.27929	.	0.539104	0.20312	N	0.094805	T	0.08088	0.0202	L	0.34521	1.04	0.26431	N	0.97594	B;P	0.38300	0.396;0.626	B;B	0.39068	0.289;0.289	T	0.23013	-1.0200	10	0.34782	T	0.22	-10.2583	6.1299	0.20199	0.1438:0.0799:0.0:0.7763	.	93;93	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	M	93;70	ENSP00000302177:I93M	ENSP00000302177:I93M	I	-	3	3	MBOAT2	9000787	0.990000	0.36364	0.936000	0.37596	0.952000	0.60782	0.717000	0.25851	0.283000	0.22279	0.459000	0.35465	ATA		0.318	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		3	105	0	0	0	1	0	3	105				
UGT2A1	10941	broad.mit.edu	37	4	70505149	70505149	+	Intron	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr4:70505149G>A	ENST00000503640.1	-	1	771				UGT2A1_ENST00000286604.4_Intron|UGT2A2_ENST00000457664.2_Silent_p.I70I|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Silent_p.I271I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GATTGGAGTTGATGAATAGAG	0.358																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(811-813)atC>atT		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							134.0	133.0	133.0					4																	70505149		1860	4092	5952	SO:0001627	intron_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70505149G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7498C>T	4.37:g.70505149G>A						UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Silent_p.I70I|UGT2A1_uc021xox.1_Silent_p.I70I|UGT2A1_uc010iht.3_Intron	p.I271I	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			2	929	-			61					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.813C>T	CCDS3529.1																																																																																				0.358	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		8	133	0	0	0	1	0	8	133				
CYP11A1	1583	broad.mit.edu	37	15	74659919	74659919	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:74659919G>C	ENST00000268053.6	-	1	162	c.8C>G	c.(7-9)gCc>gGc	p.A3G	CYP11A1_ENST00000419019.2_5'Flank|CTD-2311M21.2_ENST00000562009.1_RNA|CYP11A1_ENST00000541301.1_Missense_Mutation_p.A3G|CTD-2311M21.3_ENST00000568496.1_RNA|CYP11A1_ENST00000358632.4_5'Flank|CYP11A1_ENST00000467407.1_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	3					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AAGACCCTTGGCCAGCATGCT	0.627																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(7-9)gCc>gGc		Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						29.0	30.0	29.0					15																	74659919		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74659919G>C	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.8C>G	15.37:g.74659919G>C	ENSP00000268053:p.Ala3Gly					CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Missense_Mutation_p.A3G	p.A3G	NM_000781	NP_001093243	P05108	CP11A_HUMAN			0	163	-			3					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.8C>G	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	g	13.22	2.173528	0.38413	.	.	ENSG00000140459	ENST00000268053;ENST00000541301;ENST00000433240;ENST00000416978	T;D;D	0.86694	-1.09;-1.97;-2.16	4.18	2.22	0.28083	.	0.381426	0.23731	N	0.045132	T	0.71307	0.3324	N	0.19112	0.55	0.22378	N	0.999154	P;P;P	0.39282	0.666;0.666;0.666	B;B;B	0.33339	0.162;0.115;0.115	T	0.60885	-0.7174	10	0.27082	T	0.32	-1.472	6.0008	0.19519	0.2516:0.0:0.7484:0.0	.	3;3;3	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	G	3	ENSP00000268053:A3G;ENSP00000439750:A3G;ENSP00000388018:A3G	ENSP00000268053:A3G	A	-	2	0	CYP11A1	72446972	0.696000	0.27757	0.388000	0.26195	0.117000	0.20001	1.168000	0.31859	0.363000	0.24346	0.543000	0.68304	GCC		0.627	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			9	38	0	0	0	1	0	9	38				
USP34	9736	broad.mit.edu	37	2	61417450	61417450	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr2:61417450A>G	ENST00000398571.2	-	78	9905	c.9829T>C	c.(9829-9831)Tcc>Ccc	p.S3277P	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3277					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACTCGGTTGGAGAAATCAGAC	0.408																																						uc002sbe.3																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9829-9831)Tcc>Ccc		Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.							115.0	108.0	110.0					2																	61417450		1826	4092	5918	SO:0001583	missense	9736				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61417450A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9829T>C	2.37:g.61417450A>G	ENSP00000381577:p.Ser3277Pro					USP34_uc002sbd.3_Missense_Mutation_p.S79P	p.S3277P	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		77	9851	-			3277					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9829T>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.48|12.48	1.951867|1.951867	0.34471|0.34471	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.67865	.|-0.29	5.87|5.87	3.42|3.42	0.39159|0.39159	.|.	.|0.330309	.|0.38381	.|N	.|0.001720	T|T	0.33760|0.33760	0.0874|0.0874	N|N	0.02011|0.02011	-0.69|-0.69	0.25825|0.25825	N|N	0.984232|0.984232	.|B	.|0.17268	.|0.021	.|B	.|0.17722	.|0.019	T|T	0.15350|0.15350	-1.0440|-1.0440	5|10	.|0.30854	.|T	.|0.27	.|.	4.1964|4.1964	0.10445|0.10445	0.2718:0.1331:0.0:0.5952|0.2718:0.1331:0.0:0.5952	.|.	.|3277	.|Q70CQ2	.|UBP34_HUMAN	P|P	953|3125;3042;3277;155	.|ENSP00000381577:S3277P	.|ENSP00000263989:S3125P	L|S	-|-	2|1	0|0	USP34|USP34	61270954|61270954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.755000|1.755000	0.38379|0.38379	0.515000|0.515000	0.28320|0.28320	-0.339000|-0.339000	0.08088|0.08088	CTC|TCC		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			3	148	0	0	0	1	0	3	148				
DLAT	1737	broad.mit.edu	37	11	111933176	111933176	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr11:111933176C>T	ENST00000280346.6	+	14	2520	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	DLAT_ENST00000393051.1_Missense_Mutation_p.R516W|DLAT_ENST00000537636.1_Missense_Mutation_p.R392W	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	621	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TTGTGATCACCGGGTGGTGGA	0.388																																						uc001pmo.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1861-1863)Cgg>Tgg		Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						174.0	179.0	178.0					11																	111933176		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111933176C>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1861C>T	11.37:g.111933176C>T	ENSP00000280346:p.Arg621Trp					DLAT_uc010rwr.2_Missense_Mutation_p.R494W|DLAT_uc021qqn.1_Missense_Mutation_p.R565W	p.R621W	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	13	2520	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	621			Catalytic (By similarity).		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1861C>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884959	0.91814	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.98	5.07	0.68467	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	H	0.99764	4.76	0.80722	D	1	D;P;D	0.89917	1.0;0.634;1.0	D;B;D	0.87578	0.998;0.207;0.998	D	0.95193	0.8310	10	0.87932	D	0	-1.3782	15.3276	0.74179	0.0:0.933:0.0:0.067	.	621;516;621	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	W	621;516;453;392	ENSP00000280346:R621W;ENSP00000376771:R516W;ENSP00000433432:R453W;ENSP00000442427:R392W	ENSP00000280346:R621W	R	+	1	2	DLAT	111438386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.535000	0.53575	1.541000	0.49316	0.591000	0.81541	CGG		0.388	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		4	212	0	0	0	1	0	4	212				
GPATCH8	23131	broad.mit.edu	37	17	42478100	42478100	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr17:42478100C>T	ENST00000591680.1	-	8	1375	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	GPATCH8_ENST00000434000.1_Missense_Mutation_p.A371T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	449							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGCTTGCTGCCGCCTTGATG	0.502											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002igw.2																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1345-1347)Gca>Aca		Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.							157.0	157.0	157.0					17																	42478100		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478100C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1345G>A	17.37:g.42478100C>T	ENSP00000467556:p.Ala449Thr		OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.2_Missense_Mutation_p.A371T|GPATCH8_uc010wiz.2_Missense_Mutation_p.A371T	p.A449T	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	7	1564	-		Prostate(33;0.0181)	449					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.1345G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863795	0.17250	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11385	2.78	5.02	-0.309	0.12769	.	0.702694	0.13772	N	0.363850	T	0.07188	0.0182	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	10	0.40728	T	0.16	0.001	8.3644	0.32378	0.0:0.486:0.0:0.514	.	449	Q9UKJ3	GPTC8_HUMAN	T	449;371	ENSP00000395016:A371T	ENSP00000335486:A449T	A	-	1	0	GPATCH8	39833626	0.016000	0.18221	0.188000	0.23233	0.813000	0.45954	0.398000	0.20899	-0.147000	0.11254	0.563000	0.77884	GCA		0.502	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		5	296	0	0	0	1	0	5	296				
ABL1	25	broad.mit.edu	37	9	133753888	133753888	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr9:133753888G>A	ENST00000318560.5	+	8	1738	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.E453Q(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGAGCTGCTAGAGAAGGACTA	0.507			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzv.3				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		1	Substitution - Missense(1)	p.E453Q(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1414-1416)Gag>Aag		Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						171.0	168.0	169.0					9																	133753888		2203	4300	6503	SO:0001583	missense	25				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	g.chr9:133753888G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1357G>A	9.37:g.133753888G>A	ENSP00000323315:p.Glu453Lys					ABL1_uc004bzw.3_Missense_Mutation_p.E453K	p.E472K	NM_007313	NP_009297	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	7	1853	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	453			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1414G>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200620	0.94997	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.82255	-1.59;-1.59	5.01	4.11	0.48088	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108051	0.64402	D	0.000008	D	0.84991	0.5595	L	0.33485	1.01	0.80722	D	1	P;P	0.52842	0.956;0.956	P;D	0.64776	0.881;0.929	D	0.86242	0.1644	10	0.87932	D	0	.	12.6609	0.56813	0.0804:0.0:0.9196:0.0	.	453;490	P00519;Q59FK4	ABL1_HUMAN;.	K	268;472;453	ENSP00000361423:E472K;ENSP00000323315:E453K	ENSP00000323315:E453K	E	+	1	0	ABL1	132743709	1.000000	0.71417	0.990000	0.47175	0.893000	0.52053	7.885000	0.87282	1.236000	0.43740	0.655000	0.94253	GAG		0.507	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		5	303	0	0	0	1	0	5	303				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	63	0	0	0	1	0	32	63				
TRIP10	9322	broad.mit.edu	37	19	6741105	6741105	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr19:6741105G>A	ENST00000313244.9	+	2	144	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000313285.8_Missense_Mutation_p.E37K|TRIP10_ENST00000596758.1_Missense_Mutation_p.E37K|TRIP10_ENST00000596543.1_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	37	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGAACGCACCGAAGTGGAACA	0.627																																						uc002mfs.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(109-111)Gaa>Aaa		Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.							75.0	66.0	69.0					19																	6741105		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6741105G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.109G>A	19.37:g.6741105G>A	ENSP00000320117:p.Glu37Lys					TRIP10_uc010dux.2_Missense_Mutation_p.E37K|TRIP10_uc002mfr.3_Missense_Mutation_p.E37K|TRIP10_uc010duy.3_Non-coding_Transcript	p.E37K	NM_004240	NP_004231	Q15642	CIP4_HUMAN			1	175	+			37			FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.539337	0.85917	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.46063	0.88;2.28	4.11	4.11	0.48088	Fps/Fes/Fer/CIP4 homology (3);	0.063503	0.64402	D	0.000008	T	0.62865	0.2463	M	0.76574	2.34	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;0.998	D;D;P	0.72625	0.978;0.971;0.744	T	0.68138	-0.5488	10	0.66056	D	0.02	-24.7607	13.836	0.63410	0.0:0.0:1.0:0.0	.	37;37;37	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	K	37	ENSP00000320493:E37K;ENSP00000320117:E37K	ENSP00000320117:E37K	E	+	1	0	TRIP10	6692105	1.000000	0.71417	0.921000	0.36526	0.929000	0.56500	9.078000	0.94023	1.834000	0.53371	0.462000	0.41574	GAA		0.627	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			4	100	0	0	0	1	0	4	100				
LRRC42	115353	broad.mit.edu	37	1	54426067	54426067	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:54426067A>T	ENST00000371370.3	+	5	1165	c.644A>T	c.(643-645)gAt>gTt	p.D215V	LRRC42_ENST00000319223.4_Missense_Mutation_p.D215V	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	215										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTTATCTGATGCTGGGGTG	0.368																																						uc001cwj.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(643-645)gAt>gTt		Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.							140.0	139.0	139.0					1																	54426067		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426067A>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.644A>T	1.37:g.54426067A>T	ENSP00000360421:p.Asp215Val					LRRC42_uc001cwk.1_Missense_Mutation_p.D215V	p.D215V	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN			3	844	+			215					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.644A>T	CCDS585.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709431	0.89018	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.33216	5.32;5.32;1.42	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	L	0.29908	0.895	0.80722	D	1	D;D	0.59767	0.986;0.977	D;P	0.63957	0.92;0.834	T	0.33803	-0.9854	10	0.62326	D	0.03	-19.0308	16.5479	0.84454	1.0:0.0:0.0:0.0	.	215;215	E7EP35;Q9Y546	.;LRC42_HUMAN	V	215	ENSP00000360421:D215V;ENSP00000318185:D215V;ENSP00000389368:D215V	ENSP00000318185:D215V	D	+	2	0	LRRC42	54198655	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.090000	0.89526	2.371000	0.80710	0.533000	0.62120	GAT		0.368	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		22	140	0	0	0	1	0	22	140				
HMGB1	3146	broad.mit.edu	37	13	31035567	31035569	+	In_Frame_Del	DEL	TCC	TCC	-	rs561533151	byFrequency	TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr13:31035567_31035569delTCC	ENST00000405805.1	-	5	1513_1515	c.573_575delGGA	c.(571-576)gaggaa>gaa	p.191_192EE>E	HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000339872.4_In_Frame_Del_p.191_192EE>E|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000341423.5_In_Frame_Del_p.191_192EE>E|HMGB1_ENST00000399494.1_In_Frame_Del_p.191_192EE>E			P09429	HMGB1_HUMAN	high mobility group box 1	191	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		ctcttcatcttcctcatcttcct	0.399														5	0.000998403	0.0	0.0	5008	,	,		19779	0.003		0.0	False		,,,				2504	0.002					uc001usz.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(571-576)gaggaa>gaa		Homo sapiens high mobility group box 1 (HMGB1), mRNA.				17,3581		6,5,1788						-5.2	0.9		dbSNP_129	17	17,7647		3,11,3818	no	coding	HMGB1	NM_002128.4		9,16,5606	A1A1,A1R,RR		0.2218,0.4725,0.3019				34,11228				SO:0001651	inframe_deletion	3146				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|dendritic cell chemotaxis|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of DNA binding|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	DNA bending activity|RAGE receptor binding|chemoattractant activity|cytokine activity|damaged DNA binding|double-stranded DNA binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035567_31035569delTCC	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.573_575delGGA	13.37:g.31035567_31035569delTCC	ENSP00000384678:p.Glu192del					HMGB1_uc001usv.3_3'UTR|HMGB1_uc001usx.3_In_Frame_Del_p.191_192EE>E|HMGB1_uc001usy.3_In_Frame_Del_p.152_153EE>E|HMGB1_uc001uta.1_3'UTR	p.191_192EE>E	NM_002128	NP_002119	P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	4	745_747	-		Lung SC(185;0.0257)	191			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	In_Frame_Del	DEL	ENST00000405805.1	37	c.573_575delGGA	CCDS9335.1																																																																																				0.399	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		4	4						4	4	---	---	---	---
