#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
SEZ6	124925	broad.mit.edu	37	17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.P493P|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2881-2883)cGc>cCc		seizure related 6 homolog (mouse)							7.0	10.0	9.0					17																	27283247		1889	4083	5972	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27283247C>G	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2882G>C	17.37:g.27283247C>G	ENSP00000312942:p.Arg961Pro					SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000335960.6_Silent_p.P493P	p.R961P			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		16	3310	-	Lung NSC(42;0.0137)		961					B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2882G>C	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298116	0.23650	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.26810	1.71	5.46	-3.4	0.04853	.	1.305430	0.04903	N	0.451599	T	0.26484	0.0647	L	0.57536	1.79	0.09310	N	0.999999	P;B	0.34757	0.467;0.275	B;B	0.38880	0.284;0.105	T	0.44128	-0.9348	10	0.62326	D	0.03	.	5.5265	0.16960	0.2225:0.2315:0.0:0.546	.	961;961	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	P	961;961;836;78	ENSP00000353440:R961P	ENSP00000312942:R836P	R	-	2	0	SEZ6	24307373	0.002000	0.14202	0.010000	0.14722	0.764000	0.43329	-0.016000	0.12613	-0.387000	0.07809	0.491000	0.48974	CGC		0.582	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			4	1	0	0	0	1	0	4	1				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	158	0	0	0	1	0	5	158				
ADAM12	8038	broad.mit.edu	37	10	127737869	127737869	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr10:127737869G>A	ENST00000368679.4	-	16	2188	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	627	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTGGGTCCGGCATGTCATCG	0.527																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1879-1881)Ccg>Tcg		ADAM metallopeptidase domain 12							183.0	187.0	185.0					10																	127737869		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127737869G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1879C>T	10.37:g.127737869G>A	ENSP00000357668:p.Pro627Ser					ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S	p.P627S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	16	2188	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	627			Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1879C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104243	0.76983	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21191	2.02;2.02	4.9	4.9	0.64082	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.42008	1.315	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;0.999;0.999;0.999;1.0	T	0.03534	-1.1027	10	0.14252	T	0.57	.	18.2825	0.90103	0.0:0.0:1.0:0.0	.	624;624;627;624;627	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	S	627	ENSP00000357668:P627S;ENSP00000357665:P627S	ENSP00000357665:P627S	P	-	1	0	ADAM12	127727859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.806000	0.86020	2.548000	0.85928	0.655000	0.94253	CCG		0.527	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	220	0	0	0	1	0	5	220				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		42	82	0	0	0	1	0	42	82				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	49	1	0	0.000602214	1	0.000656961	4	49				
DCAF12L2	340578	broad.mit.edu	37	X	125299250	125299250	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chrX:125299250A>T	ENST00000360028.2	-	1	684	c.658T>A	c.(658-660)Tgg>Agg	p.W220R	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.W220R			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	220										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCCATCCGCCACAGAGCCACG	0.632																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(658-660)Tgg>Agg		DDB1 and CUL4 associated factor 12-like 2							35.0	38.0	37.0					X																	125299250		2202	4295	6497	SO:0001583	missense	340578							g.chrX:125299250A>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.658T>A	X.37:g.125299250A>T	ENSP00000353128:p.Trp220Arg					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.W220R	p.W220R	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	738	-			220					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.658T>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.910931	0.33721	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	D;D	0.83506	-1.73;-1.73	4.53	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.31290	N	0.007916	D	0.90058	0.6895	M	0.87971	2.92	0.39861	D	0.973374	D	0.89917	1.0	D	0.97110	1.0	D	0.90345	0.4362	10	0.87932	D	0	.	6.798	0.23736	0.8851:0.0:0.1149:0.0	.	220	Q5VW00	DC122_HUMAN	R	220	ENSP00000441489:W220R;ENSP00000353128:W220R	ENSP00000353128:W220R	W	-	1	0	DCAF12L2	125126931	1.000000	0.71417	0.256000	0.24389	0.007000	0.05969	6.073000	0.71245	1.737000	0.51674	0.441000	0.28932	TGG		0.632	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		20	55	0	0	0	1	0	20	55				
F8	2157	broad.mit.edu	37	X	154197713	154197713	+	Missense_Mutation	SNP	C	C	T	rs137852403		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chrX:154197713C>T	ENST00000360256.4	-	7	1102	c.902G>A	c.(901-903)cGc>cAc	p.R301H	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	301	F5/8 type A 1.|Plastocyanin-like 2.		R -> C (in HEMA; severe/mild). {ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:7579394}.|R -> H (in HEMA; severe; dbSNP:rs28935216). {ECO:0000269|PubMed:10338101, ECO:0000269|PubMed:10408784, ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:1908096}.|R -> L (in HEMA; severe). {ECO:0000269|PubMed:8644728}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGACGCCTGGCGATGGTTCCT	0.458																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM082642|CM910121|CM950395	F8	M	rs137852403	c.(901-903)cGc>cAc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						150.0	131.0	138.0					X																	154197713		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154197713C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.902G>A	X.37:g.154197713C>T	ENSP00000353393:p.Arg301His						p.R301H	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			7	1102	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		301		R -> C (in HEMA; severe/mild).|R -> H (in HEMA; severe; dbSNP:rs28935216).|R -> L (in HEMA; severe).	F5/8 type A 1.|Plastocyanin-like 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.902G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530480	0.85706	.	.	ENSG00000185010	ENST00000360256	D	0.99793	-6.77	5.51	5.51	0.81932	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.70108	2.13	0.40358	D	0.979216	D	0.89917	1.0	D	0.97110	1.0	D	0.97805	1.0247	10	0.52906	T	0.07	-12.6853	15.0532	0.71891	0.0:1.0:0.0:0.0	rs28935216	301	P00451	FA8_HUMAN	H	301	ENSP00000353393:R301H	ENSP00000353393:R301H	R	-	2	0	F8	153850907	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	3.772000	0.55325	2.305000	0.77605	0.544000	0.68410	CGC		0.458	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			12	147	0	0	0	1	0	12	147				
UNC13A	23025	broad.mit.edu	37	19	17758148	17758148	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr19:17758148G>A	ENST00000519716.2	-	17	1969	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	UNC13A_ENST00000551649.1_Missense_Mutation_p.T657M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T657M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T745M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T655M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T657M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	657					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATCTGCTGCGTGTGCGCCGT	0.622																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2233-2235)aCg>aTg		unc-13 homolog A (C. elegans)							57.0	62.0	60.0					19																	17758148		2128	4264	6392	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17758148G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1970C>T	19.37:g.17758148G>A	ENSP00000429562:p.Thr657Met					UNC13A_ENST00000252773.7_Missense_Mutation_p.T657M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T657M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T657M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T655M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T657M	p.T745M			Q9UPW8	UN13A_HUMAN			18	2233	-			657			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2234C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220125	0.58560	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	3.76	3.76	0.43208	.	0.354673	0.25964	U	0.027175	T	0.41719	0.1171	N	0.08118	0	0.30489	N	0.771575	P	0.39809	0.689	B	0.37650	0.255	T	0.51466	-0.8702	10	0.48119	T	0.1	-17.1224	13.4331	0.61068	0.0:0.0:1.0:0.0	.	657	Q9UPW8	UN13A_HUMAN	M	657;745;657;657;657;655	ENSP00000429562:T657M;ENSP00000400409:T745M;ENSP00000252773:T657M;ENSP00000447236:T657M;ENSP00000447572:T657M;ENSP00000446831:T655M	ENSP00000252773:T657M	T	-	2	0	UNC13A	17619148	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	2.807000	0.47955	1.812000	0.52913	0.313000	0.20887	ACG		0.622	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		6	15	0	0	0	1	0	6	15				
ZBTB21	49854	broad.mit.edu	37	21	43411861	43411861	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr21:43411861G>A	ENST00000310826.5	-	3	2527	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	ZBTB21_ENST00000398505.3_Missense_Mutation_p.R581C|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R782C|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R782C|ZBTB21_ENST00000465968.1_5'UTR	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	782					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TTGAAGGTGCGCATGCACTCG	0.517																																						ENST00000310826.5																			0											c.(2344-2346)Cgc>Tgc		zinc finger and BTB domain containing 21							166.0	171.0	169.0					21																	43411861		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411861G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2344C>T	21.37:g.43411861G>A	ENSP00000308759:p.Arg782Cys					ZBTB21_ENST00000398499.1_Missense_Mutation_p.R782C|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R782C|ZBTB21_ENST00000398505.3_Missense_Mutation_p.R581C	p.R782C	NM_001098402.1	NP_001091872.1					3	2527	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2344C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440882	0.83993	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08896	3.2;3.04;3.04;3.04	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.29158	0.0725	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.969;1.0	T	0.00603	-1.1649	10	0.87932	D	0	-28.5079	19.371	0.94484	0.0:0.0:1.0:0.0	.	581;782	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	C	581;782;782;782	ENSP00000381517:R581C;ENSP00000308759:R782C;ENSP00000381512:R782C;ENSP00000381523:R782C	ENSP00000308759:R782C	R	-	1	0	ZNF295	42284930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.208000	0.95075	2.656000	0.90262	0.563000	0.77884	CGC		0.517	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		5	226	0	0	0	1	0	5	226				
WNK2	65268	broad.mit.edu	37	9	96019417	96019417	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr9:96019417C>T	ENST00000297954.4	+	10	2378	c.2378C>T	c.(2377-2379)cCg>cTg	p.P793L	WNK2_ENST00000395475.2_Missense_Mutation_p.P727L|WNK2_ENST00000349097.3_Missense_Mutation_p.P405L|WNK2_ENST00000395477.2_Missense_Mutation_p.P793L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P405L	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	793					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAAGTCCCTCCGCAGGTAATT	0.662																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2377-2379)cCg>cTg		WNK lysine deficient protein kinase 2							24.0	25.0	25.0					9																	96019417		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96019417C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2378C>T	9.37:g.96019417C>T	ENSP00000297954:p.Pro793Leu					WNK2_ENST00000395477.2_Missense_Mutation_p.P793L|WNK2_ENST00000427277.2_Missense_Mutation_p.P405L|WNK2_ENST00000395475.2_Missense_Mutation_p.P727L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P405L	p.P793L			Q9Y3S1	WNK2_HUMAN			10	2378	+			793					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.2378C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.91|11.91	1.778536|1.778536	0.31502|0.31502	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000432730	T;T;T;T;T;T|.	0.72051|.	-0.62;-0.34;-0.35;-0.61;0.24;0.23|.	4.94|4.94	3.04|3.04	0.35103|0.35103	.|.	0.493949|.	0.21154|.	N|.	0.079280|.	T|T	0.46927|0.46927	0.1418|0.1418	L|L	0.29908|0.29908	0.895|0.895	0.35833|0.35833	D|D	0.825474|0.825474	P;P;P;P;P|.	0.41673|.	0.759;0.564;0.645;0.759;0.645|.	B;B;B;B;B|.	0.28465|.	0.09;0.042;0.041;0.09;0.041|.	T|T	0.49995|0.49995	-0.8879|-0.8879	10|5	0.59425|.	D|.	0.04|.	.|.	13.0588|13.0588	0.58996|0.58996	0.2917:0.7083:0.0:0.0|0.2917:0.7083:0.0:0.0	.|.	793;793;396;793;793|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	L|C	741;793;793;727;405;405|789	ENSP00000412465:P741L;ENSP00000297954:P793L;ENSP00000378860:P793L;ENSP00000378858:P727L;ENSP00000297876:P405L;ENSP00000411181:P405L|.	ENSP00000297954:P793L|.	P|R	+|+	2|1	0|0	WNK2|WNK2	95059238|95059238	0.049000|0.049000	0.20398|0.20398	0.193000|0.193000	0.23327|0.23327	0.597000|0.597000	0.36814|0.36814	2.632000|2.632000	0.46511|0.46511	0.451000|0.451000	0.26802|0.26802	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.662	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		14	24	0	0	0	1	0	14	24				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	54	0	0	0	1	0	5	54				
LRRC39	127495	broad.mit.edu	37	1	100614603	100614603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr1:100614603C>A	ENST00000370137.1	-	10	1201	c.1003G>T	c.(1003-1005)Gga>Tga	p.G335*	LRRC39_ENST00000370138.1_3'UTR|TRMT13_ENST00000370141.2_3'UTR|LRRC39_ENST00000342895.3_Nonsense_Mutation_p.G335*	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	335										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTATATTATCCATCCGTATTT	0.318																																						ENST00000370137.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(1003-1005)Gga>Tga		leucine rich repeat containing 39							133.0	134.0	134.0					1																	100614603		2203	4298	6501	SO:0001587	stop_gained	127495							g.chr1:100614603C>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.1003G>T	1.37:g.100614603C>A	ENSP00000359156:p.Gly335*					TRMT13_ENST00000370141.2_3'UTR|LRRC39_ENST00000342895.3_Nonsense_Mutation_p.G335*|LRRC39_ENST00000370138.1_3'UTR	p.G335*	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	10	1201	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	335					B3KUD2|D3DT56|Q5VVK7	Nonsense_Mutation	SNP	ENST00000370137.1	37	c.1003G>T	CCDS766.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971074	0.53614	.	.	ENSG00000122477	ENST00000370137;ENST00000342895	.	.	.	5.92	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.8046	0.46509	0.0:0.9135:0.0:0.0864	.	.	.	.	X	335	.	ENSP00000344470:G335X	G	-	1	0	LRRC39	100387191	0.002000	0.14202	0.011000	0.14972	0.271000	0.26615	0.091000	0.15046	1.511000	0.48818	0.591000	0.81541	GGA		0.318	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		3	38	1	0	1	1	1	3	38				
PMM2	5373	broad.mit.edu	37	16	8906904	8906904	+	Nonsense_Mutation	SNP	C	C	T	rs199562225		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr16:8906904C>T	ENST00000268261.4	+	7	646	c.580C>T	c.(580-582)Cga>Tga	p.R194*	PMM2_ENST00000537352.1_Nonsense_Mutation_p.R69*|PMM2_ENST00000569958.1_Nonsense_Mutation_p.R103*|PMM2_ENST00000566983.1_Nonsense_Mutation_p.R167*|PMM2_ENST00000539622.1_Nonsense_Mutation_p.R111*	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	194					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATACTGTCTGCGACATGTGGA	0.453																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9	GRCh37	CM034289	PMM2	M		c.(580-582)Cga>Tga		phosphomannomutase 2							147.0	129.0	136.0					16																	8906904		2197	4300	6497	SO:0001587	stop_gained	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8906904C>T	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.580C>T	16.37:g.8906904C>T	ENSP00000268261:p.Arg194*					PMM2_ENST00000569958.1_Nonsense_Mutation_p.R103*|PMM2_ENST00000566983.1_Nonsense_Mutation_p.R167*|PMM2_ENST00000539622.1_Nonsense_Mutation_p.R111*|PMM2_ENST00000537352.1_Nonsense_Mutation_p.R69*	p.R194*	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			7	646	+			194					A8K672|B7Z6R0|D3DUF3	Nonsense_Mutation	SNP	ENST00000268261.4	37	c.580C>T	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946142	0.18356	.	.	ENSG00000140650	ENST00000268261;ENST00000539622;ENST00000537352	.	.	.	4.89	-8.08	0.01094	.	0.659654	0.15856	N	0.241245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7549	0.34639	0.2197:0.311:0.4693:0.0	.	.	.	.	X	194;111;69	.	ENSP00000268261:R194X	R	+	1	2	PMM2	8814405	0.978000	0.34361	0.435000	0.26784	0.016000	0.09150	0.826000	0.27407	-1.655000	0.01497	-0.976000	0.02587	CGA		0.453	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		6	149	0	0	0	1	0	6	149				
KLHL22	84861	broad.mit.edu	37	22	20796598	20796598	+	Missense_Mutation	SNP	C	C	T	rs570202770		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr22:20796598C>T	ENST00000328879.4	-	7	1823	c.1667G>A	c.(1666-1668)cGc>cAc	p.R556H	KLHL22_ENST00000440659.2_Missense_Mutation_p.R413H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	556					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCGGCTGCCGCGGTTGTGTGA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20696	0.0		0.0	False		,,,				2504	0.0					ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1666-1668)cGc>cAc		kelch-like family member 22							63.0	61.0	62.0					22																	20796598		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20796598C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1667G>A	22.37:g.20796598C>T	ENSP00000331682:p.Arg556His					KLHL22_ENST00000440659.2_Missense_Mutation_p.R413H	p.R556H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		7	1823	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	556					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1667G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438954	0.63067	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.77489	-1.1;-1.1	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.114494	0.64402	D	0.000017	T	0.77452	0.4132	N	0.25485	0.75	0.47778	D	0.999512	D	0.63880	0.993	P	0.60345	0.873	T	0.78283	-0.2264	10	0.56958	D	0.05	.	10.6721	0.45764	0.0:0.9133:0.0:0.0867	.	556	Q53GT1	KLH22_HUMAN	H	556;413	ENSP00000331682:R556H;ENSP00000405521:R413H	ENSP00000331682:R556H	R	-	2	0	KLHL22	19126598	0.948000	0.32251	0.968000	0.41197	0.910000	0.53928	1.901000	0.39838	2.687000	0.91594	0.563000	0.77884	CGC		0.612	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		27	14	0	0	0	1	0	27	14				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	49	0	0	0	1	0	4	49				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	48	0	0	0	1	0	4	48				
RGPD8	727851	broad.mit.edu	37	2	113147089	113147089	+	Missense_Mutation	SNP	G	G	A	rs565181003	byFrequency	TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr2:113147089G>A	ENST00000302558.3	-	20	3624	c.3433C>T	c.(3433-3435)Cgg>Tgg	p.R1145W	RGPD8_ENST00000409750.1_Missense_Mutation_p.R1005W	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1145	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCTGCCAACCGCTCTAGTTTG	0.458													.|||	3	0.000599042	0.0008	0.0	5008	,	,		26402	0.002		0.0	False		,,,				2504	0.0					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(3433-3435)Cgg>Tgg		RANBP2-like and GRIP domain containing 8							20.0	16.0	17.0					2																	113147089		691	1578	2269	SO:0001583	missense	727851							g.chr2:113147089G>A	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3433C>T	2.37:g.113147089G>A	ENSP00000306637:p.Arg1145Trp					RGPD8_ENST00000409750.1_Missense_Mutation_p.R1005W	p.R1145W	NM_001164463.1	NP_001157935.1					20	3624	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.3433C>T	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	11.66	1.704460	0.30232	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.44482	0.92;0.92	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.45196	0.1330	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	P	0.56916	0.809	T	0.47129	-0.9141	9	0.87932	D	0	-3.8912	10.3508	0.43934	0.0:0.0:1.0:0.0	.	1145	O14715	RGPD8_HUMAN	W	1145;1005	ENSP00000306637:R1145W;ENSP00000386511:R1005W	ENSP00000306637:R1145W	R	-	1	2	RGPD8	112863560	1.000000	0.71417	0.977000	0.42913	0.424000	0.31475	9.529000	0.98049	1.299000	0.44798	0.152000	0.16155	CGG		0.458	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	226	0	0	0	1	0	4	226				
DDX60	55601	broad.mit.edu	37	4	169214990	169214990	+	Missense_Mutation	SNP	C	C	T	rs146995893		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr4:169214990C>T	ENST00000393743.3	-	7	1121	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	277					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCCTAAAAAGCGATGGTACAT	0.408																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(829-831)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		C	HIS/ARG	0,4406		0,0,2203	114.0	118.0	116.0		830	-4.3	0.0	4	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	no	missense	DDX60	NM_017631.5	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	277/1713	169214990	2,13004	2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169214990C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.830G>A	4.37:g.169214990C>T	ENSP00000377344:p.Arg277His						p.R277H	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	7	1121	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	277					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.830G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	7.432	0.638892	0.14386	0.0	2.33E-4	ENSG00000137628	ENST00000393743	T	0.17370	2.28	4.12	-4.33	0.03677	.	1.231740	0.05507	N	0.559471	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41324	-0.9515	10	0.14252	T	0.57	.	11.5041	0.50454	0.0:0.277:0.0:0.723	.	277	Q8IY21	DDX60_HUMAN	H	277	ENSP00000377344:R277H	ENSP00000377344:R277H	R	-	2	0	DDX60	169451565	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-0.263000	0.08670	-0.857000	0.04115	-0.259000	0.10710	CGC		0.408	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		11	117	0	0	0	1	0	11	117				
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs571541469		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr6:43970503_43970504insGCG	ENST00000336600.5	+	4	389_390	c.369_370insGCG	c.(370-372)gcg>GCGgcg	p.124_124A>AA	C6orf223_ENST00000442114.2_In_Frame_Ins_p.104_104A>AA|RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	124	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777																																						ENST00000336600.5																			0				central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6						c.(367-372)cgcggc>cgGCGcggc		chromosome 6 open reading frame 223																																				SO:0001652	inframe_insertion	221416							g.chr6:43970503_43970504insGCG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.394_396dupGCG	6.37:g.43970510_43970512dupGCG	ENSP00000426159:p.Ala132dup					C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA	p.123_124insR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	389_390	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		123					E9PB59|Q8N575	In_Frame_Ins	INS	ENST00000336600.5	37	c.369_370insGCG	CCDS34459.1																																																																																				0.777	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		4	9						4	9	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		12	39						12	39	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC	rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	5						3	5	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70954544	70954545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr12:70954544_70954545insC	ENST00000261266.5	-	15	3713_3714	c.3684_3685insG	c.(3682-3687)cggtttfs	p.F1229fs	PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.F1139fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.F1139fs|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.F1447fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.F1139fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.F1359fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.F1446fs	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1229	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGCCTTGAAACCGCCACTCCG	0.49																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4336-4341)cgttcafs		protein tyrosine phosphatase, receptor type, B																																				SO:0001589	frameshift_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954544_70954545insC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3685dupG	12.37:g.70954546_70954546dupC	ENSP00000261266:p.Phe1229fs					PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S1359fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S1139fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S1139fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.S1446fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.S1229fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S1139fs	p.S1447fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		17	4382_4383	-	Renal(347;0.236)		1229					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Frame_Shift_Ins	INS	ENST00000261266.5	37	c.4338_4339insG	CCDS44944.1																																																																																				0.490	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			8	40						8	40	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129171350	129171351	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chrX:129171350_129171351delTC	ENST00000218147.7	+	9	4511_4512	c.4314_4315delTC	c.(4312-4317)gttctcfs	p.L1439fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.L1309fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.L1439fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.L1513fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1439					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGATGTTGTTCTCTACTGCCT	0.5																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4312-4317)gttcfs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129171350_129171351delTC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4314_4315delTC	X.37:g.129171352_129171353delTC	ENSP00000218147:p.Leu1439fs					BCORL1_ENST00000359304.2_Frame_Shift_Del_p.VL1308fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.VL1512fs|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.VL1438fs	p.VL1438fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			8	4358_4359	+			1438					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.4314_4315delTC	CCDS14616.1																																																																																				0.500	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		36	62						36	62	---	---	---	---
