#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
GIGYF2	26058	broad.mit.edu	37	2	233710457	233710457	+	Silent	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr2:233710457G>A	ENST00000409547.1	+	28	3632	c.3321G>A	c.(3319-3321)gtG>gtA	p.V1107V	GIGYF2_ENST00000409480.1_Silent_p.V1129V|GIGYF2_ENST00000409451.3_Silent_p.V1128V|GIGYF2_ENST00000373563.4_Silent_p.V1107V|GIGYF2_ENST00000373566.3_Silent_p.V1129V|GIGYF2_ENST00000409196.3_Silent_p.V1101V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1107					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTAGGTGTGTCTAACCGGC	0.363																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3385-3387)gtG>gtA		GRB10 interacting GYF protein 2							94.0	96.0	95.0					2																	233710457		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233710457G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3321G>A	2.37:g.233710457G>A						GIGYF2_ENST00000409480.1_Silent_p.V1129V|GIGYF2_ENST00000373563.4_Silent_p.V1107V|GIGYF2_ENST00000409547.1_Silent_p.V1107V|GIGYF2_ENST00000409451.3_Silent_p.V1128V|GIGYF2_ENST00000409196.3_Silent_p.V1101V	p.V1129V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3584	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1107					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.3387G>A	CCDS33401.1																																																																																				0.363	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	75	0	0	0	0.184627	0	4	75				
CACHD1	57685	broad.mit.edu	37	1	65117914	65117914	+	Silent	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:65117914G>A	ENST00000371073.2	+	10	1461	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	CACHD1_ENST00000290039.5_Silent_p.V436V|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	487	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGTGGACGTGAATCTGGCTT	0.368																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1459-1461)gtG>gtA		cache domain containing 1							219.0	190.0	200.0					1																	65117914		2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65117914G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1461G>A	1.37:g.65117914G>A						CACHD1_ENST00000290039.5_Silent_p.V436V|CACHD1_ENST00000495994.1_3'UTR	p.V487V			Q5VU97	CAHD1_HUMAN			10	1461	+			487			Cache 1.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.1461G>A																																																																																					0.368	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		12	72	0	0	0	0.411799	0	12	72				
FCGBP	8857	broad.mit.edu	37	19	40433640	40433640	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr19:40433640G>A	ENST00000221347.6	-	2	636	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	210	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTTGACCCCGAGAGATCCAC	0.542																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(628-630)tCg>tTg		Fc fragment of IgG binding protein							72.0	72.0	72.0					19																	40433640		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433640G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.629C>T	19.37:g.40433640G>A	ENSP00000221347:p.Ser210Leu						p.S210L	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	636	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		210			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.629C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455589	0.63401	.	.	ENSG00000090920	ENST00000221347	T	0.20881	2.04	4.47	4.47	0.54385	.	0.103243	0.38663	N	0.001620	T	0.42585	0.1209	L	0.54323	1.7	0.33321	D	0.567339	D	0.89917	1.0	D	0.76071	0.987	T	0.53092	-0.8487	10	0.87932	D	0	.	17.1195	0.86698	0.0:0.0:1.0:0.0	.	210	Q9Y6R7	FCGBP_HUMAN	L	210	ENSP00000221347:S210L	ENSP00000221347:S210L	S	-	2	0	FCGBP	45125480	1.000000	0.71417	0.814000	0.32528	0.024000	0.10985	8.277000	0.89896	2.775000	0.95449	0.655000	0.94253	TCG		0.542	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		9	75	0	0	0	0.361761	0	9	75				
KMT2C	58508	broad.mit.edu	37	7	151879574	151879574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151879574G>A	ENST00000262189.6	-	36	5589	c.5371C>T	c.(5371-5373)Cag>Tag	p.Q1791*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1791*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1791	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1791*(2)									AGAAGATGCTGAGAACCAAAT	0.468																																						ENST00000355193.2																			2	Substitution - Nonsense(2)	p.Q1791*(2)	lung(2)								c.(5371-5373)Cag>Tag		lysine (K)-specific methyltransferase 2C							124.0	125.0	124.0					7																	151879574		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151879574G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5371C>T	7.37:g.151879574G>A	ENSP00000262189:p.Gln1791*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1791*	p.Q1791*							36	5589	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5371C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	46	12.956122	0.99709	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.4	4.49	0.54785	.	0.000000	0.42548	D	0.000687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.7431	0.77918	0.0:0.1371:0.8629:0.0	.	.	.	.	X	1791	.	ENSP00000262189:Q1791X	Q	-	1	0	MLL3	151510507	1.000000	0.71417	0.071000	0.20095	0.994000	0.84299	6.487000	0.73633	1.213000	0.43380	0.557000	0.71058	CAG		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	177	0	0	0	0.457914	0	15	177				
TRPM3	80036	broad.mit.edu	37	9	73152080	73152080	+	Missense_Mutation	SNP	C	C	T	rs144341800		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr9:73152080C>T	ENST00000377111.2	-	25	4156	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	TRPM3_ENST00000377106.1_Missense_Mutation_p.E1177K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1167K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1154K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1309K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1332K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1167K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1177K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1305K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1164K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1330					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.E1309K(1)|p.E1177K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGTTCCCTTCCTGGCTGTTG	0.567																																						ENST00000377110.2																			2	Substitution - Missense(2)	p.E1309K(1)|p.E1177K(1)	skin(2)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3913-3915)Gaa>Aaa		transient receptor potential cation channel, subfamily M, member 3							138.0	126.0	130.0					9																	73152080		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73152080C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3913G>A	9.37:g.73152080C>T	ENSP00000366315:p.Glu1305Lys					TRPM3_ENST00000408909.2_Missense_Mutation_p.E1164K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1167K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1177K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1154K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1177K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1305K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1309K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1332K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1167K	p.E1305K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4156	-			1330					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3913G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.18|19.18	3.777421|3.777421	0.70107|0.70107	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.60548|.	0.34;0.3;0.22;0.22;0.18;0.29;0.18;0.21;0.22;0.22;0.3|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.050980|.	0.85682|.	D|.	0.000000|.	T|T	0.67183|0.67183	0.2866|0.2866	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;B;P;P;B;P|.	0.40431|.	0.57;0.274;0.619;0.439;0.633;0.716;0.383;0.717|.	B;B;B;B;B;B;B;B|.	0.43052|.	0.255;0.072;0.406;0.109;0.114;0.311;0.237;0.15|.	T|T	0.58797|0.58797	-0.7573|-0.7573	10|5	0.16420|.	T|.	0.52|.	-27.4447|-27.4447	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1305;1305;1295;1309;1167;1164;1277;1164|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	K|E	1305;1305;1177;1167;1164;1309;1164;1164;1177;1167;1332|1153	ENSP00000366315:E1305K;ENSP00000366314:E1305K;ENSP00000366310:E1177K;ENSP00000354066:E1167K;ENSP00000366309:E1164K;ENSP00000350140:E1309K;ENSP00000386127:E1164K;ENSP00000379581:E1164K;ENSP00000379587:E1177K;ENSP00000350791:E1167K;ENSP00000389542:E1332K|.	ENSP00000350140:E1309K|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72341900|72341900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.567	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		23	100	0	0	0	0.681144	0	23	100				
KCNAB1	7881	broad.mit.edu	37	3	156009858	156009858	+	Intron	SNP	G	G	T	rs138625130		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr3:156009858G>T	ENST00000490337.1	+	2	339				KCNAB1_ENST00000302490.8_Silent_p.T54T|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Silent_p.T54T	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.T54T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGACGTTCACGCCTCAGCATC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17647	0.0		0.0	False		,,,				2504	0.001					ENST00000302490.8																			1	Substitution - coding silent(1)	p.T54T(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(160-162)acG>acT		potassium voltage-gated channel, shaker-related subfamily, beta member 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	76.0	70.0	72.0		,162,	3.3	1.0	3	dbSNP_134	72	0,8600		0,0,4300	no	intron,coding-synonymous,intron	KCNAB1	NM_003471.3,NM_172159.3,NM_172160.2	,,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,,	,54/402,	156009858	1,13005	2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156009858G>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129547G>T	3.37:g.156009858G>T						KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389634.5_Silent_p.T54T	p.T54T	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	1033	+			72					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.162G>T	CCDS3174.1																																																																																				0.567	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		4	81	1	0	1.23904e-05	0.184627	1.42125e-05	4	81				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		5	44	0	0	0	0.184627	0	5	44				
KMT2C	58508	broad.mit.edu	37	7	151878394	151878394	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151878394G>C	ENST00000262189.6	-	36	6769	c.6551C>G	c.(6550-6552)tCt>tGt	p.S2184C	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2184C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2184	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGTTTGTGTAGATGGTCTTGG	0.483																																						ENST00000355193.2																			0											c.(6550-6552)tCt>tGt		lysine (K)-specific methyltransferase 2C							121.0	117.0	118.0					7																	151878394		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878394G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6551C>G	7.37:g.151878394G>C	ENSP00000262189:p.Ser2184Cys					KMT2C_ENST00000262189.6_Missense_Mutation_p.S2184C	p.S2184C							36	6769	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6551C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.788	0.929858	0.18131	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84589	-1.87;-1.87	5.37	4.47	0.54385	.	0.499718	0.16720	N	0.202297	D	0.82522	0.5055	L	0.53249	1.67	0.80722	D	1	P;P	0.44877	0.845;0.755	B;B	0.43331	0.237;0.416	T	0.81660	-0.0832	10	0.54805	T	0.06	.	9.1777	0.37123	0.0726:0.0:0.7804:0.1469	.	2184;1245	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	C	2184	ENSP00000262189:S2184C;ENSP00000347325:S2184C	ENSP00000262189:S2184C	S	-	2	0	MLL3	151509327	0.781000	0.28676	0.002000	0.10522	0.203000	0.24098	4.298000	0.59067	1.376000	0.46267	0.655000	0.94253	TCT		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	89	0	0	0	0.278610	0	6	89				
FRAS1	80144	broad.mit.edu	37	4	79207662	79207662	+	Silent	SNP	C	C	T	rs370655417		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr4:79207662C>T	ENST00000325942.6	+	14	1943	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	FRAS1_ENST00000264899.6_Silent_p.D501D|FRAS1_ENST00000264895.6_Silent_p.D501D	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	501					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTGTGGGGACGGCTTCTACC	0.632																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1501-1503)gaC>gaT		Fraser syndrome 1		C	,	1,4289		0,1,2144	73.0	77.0	75.0		1503,1503	-8.8	0.7	4		75	0,8484		0,0,4242	no	coding-synonymous,coding-synonymous	FRAS1	NM_001166133.1,NM_025074.6	,	0,1,6386	TT,TC,CC		0.0,0.0233,0.0078	,	501/1977,501/4013	79207662	1,12773	2145	4242	6387	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79207662C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1503C>T	4.37:g.79207662C>T						FRAS1_ENST00000264899.6_Silent_p.D501D|FRAS1_ENST00000325942.6_Silent_p.D501D	p.D501D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			14	1943	+			501					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.1503C>T	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.477|0.477	-0.881738|-0.881738	0.02530|0.02530	2.33E-4|2.33E-4	0.0|0.0	ENSG00000138759|ENSG00000138759	ENST00000508900;ENST00000534913|ENST00000502446	.|.	.|.	.|.	5.2|5.2	-8.76|-8.76	0.00830|0.00830	.|.	.|.	.|.	.|.	.|.	T|T	0.34600|0.34600	0.0903|0.0903	.|.	.|.	.|.	0.47094|0.47094	D|D	0.999311|0.999311	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41324|0.41324	-0.9515|-0.9515	4|4	.|.	.|.	.|.	.|.	2.428|2.428	0.04464|0.04464	0.2277:0.107:0.162:0.5034|0.2277:0.107:0.162:0.5034	.|.	.|.	.|.	.|.	W|M	344;246|430	.|.	.|.	R|T	+|+	1|2	2|0	FRAS1|FRAS1	79426686|79426686	0.000000|0.000000	0.05858|0.05858	0.722000|0.722000	0.30670|0.30670	0.138000|0.138000	0.21146|0.21146	-4.060000|-4.060000	0.00303|0.00303	-1.520000|-1.520000	0.01773|0.01773	-1.012000|-1.012000	0.02466|0.02466	CGG|ACG		0.632	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			6	77	0	0	0	0.217242	0	6	77				
ZGPAT	84619	broad.mit.edu	37	20	62340073	62340073	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr20:62340073C>G	ENST00000328969.5	+	2	268	c.141C>G	c.(139-141)atC>atG	p.I47M	RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000355969.6_Missense_Mutation_p.I47M|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000357119.4_Missense_Mutation_p.I47M|ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.I47M|ZGPAT_ENST00000448100.2_Missense_Mutation_p.I47M	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	47					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGGAGCTCATCGAGCTCACCG	0.672																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(139-141)atC>atG		zinc finger, CCCH-type with G patch domain							40.0	43.0	42.0					20																	62340073		2203	4299	6502	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340073C>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.141C>G	20.37:g.62340073C>G	ENSP00000332013:p.Ile47Met					ZGPAT_ENST00000448100.1_Missense_Mutation_p.I47M|ZGPAT_ENST00000355969.6_Missense_Mutation_p.I47M|ZGPAT_ENST00000369967.3_Missense_Mutation_p.I47M|ZGPAT_ENST00000357119.4_Missense_Mutation_p.I47M|ZGPAT_ENST00000490623.1_3'UTR	p.I47M	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			2	268	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		47					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.141C>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753731	0.69648	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.21	-0.368	0.12537	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.90425	3.115	0.44587	D	0.997559	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61118	-0.7127	10	0.87932	D	0	13.8711	5.0635	0.14570	0.1697:0.4752:0.0:0.3551	.	47;47;47	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	M	47	ENSP00000391176:I47M;ENSP00000348242:I47M;ENSP00000349634:I47M;ENSP00000403966:I47M;ENSP00000358984:I47M;ENSP00000332013:I47M	ENSP00000332013:I47M	I	+	3	3	ZGPAT	61810517	0.921000	0.31238	0.996000	0.52242	0.993000	0.82548	0.029000	0.13666	0.180000	0.19960	0.561000	0.74099	ATC		0.672	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		7	64	0	0	0	0.307466	0	7	64				
LOC101927209	101927209	broad.mit.edu	37	1	142713867	142713867	+	lincRNA	SNP	C	C	G	rs200957757		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:142713867C>G	ENST00000610091.1	-	0	1791																											TCATTTCTTCCTGATTATGAA	0.303																																						ENST00000369381.2																			0																																																			0							g.chr1:142713867C>G																													1.37:g.142713867C>G														0	738	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.303	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	51	0	0	0	0.248553	0	3	51				
NDUFB10	4716	broad.mit.edu	37	16	2011570	2011570	+	Silent	SNP	C	C	T			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr16:2011570C>T	ENST00000268668.6	+	3	459	c.342C>T	c.(340-342)aaC>aaT	p.N114N	NDUFB10_ENST00000569148.1_Silent_p.N103N|SNORA64_ENST00000384674.1_RNA|NDUFB10_ENST00000543683.2_Silent_p.N114N|SNORA10_ENST00000384084.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	114					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AAGGACAGAACTACCAGCAGA	0.557																																						ENST00000543683.2																			0				lung(1)|urinary_tract(1)	2						c.(340-342)aaC>aaT		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	NADH(DB00157)						122.0	125.0	124.0					16																	2011570		2199	4300	6499	SO:0001819	synonymous_variant	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011570C>T	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.342C>T	16.37:g.2011570C>T						NDUFB10_ENST00000569148.1_Silent_p.N103N|NDUFB10_ENST00000268668.6_Silent_p.N114N	p.N114N			O96000	NDUBA_HUMAN			3	424	+			114					Q96II6	Silent	SNP	ENST00000268668.6	37	c.342C>T	CCDS10451.1																																																																																				0.557	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		14	89	0	0	0	0.457914	0	14	89				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	85	0	0	0	0.217242	0	5	85				
PSME4	23198	broad.mit.edu	37	2	54146345	54146345	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr2:54146345C>A	ENST00000404125.1	-	20	2514	c.2459G>T	c.(2458-2460)tGt>tTt	p.C820F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	820					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCCAATTAAACAGTTGTGCAC	0.333																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2458-2460)tGt>tTt		proteasome (prosome, macropain) activator subunit 4							84.0	84.0	84.0					2																	54146345		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54146345C>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2459G>T	2.37:g.54146345C>A	ENSP00000384211:p.Cys820Phe					PSME4_ENST00000421748.2_Intron	p.C820F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		20	2514	-			820					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2459G>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687655	0.88639	.	.	ENSG00000068878	ENST00000404125	T	0.22539	1.95	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.64997	1.995	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.62382	0.901;0.724	T	0.04708	-1.0932	10	0.35671	T	0.21	.	19.8365	0.96659	0.0:1.0:0.0:0.0	.	195;820	Q14997-2;Q14997	.;PSME4_HUMAN	F	820	ENSP00000384211:C820F	ENSP00000384211:C820F	C	-	2	0	PSME4	53999849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.611000	0.82962	2.694000	0.91930	0.467000	0.42956	TGT		0.333	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		3	50	1	0	0.00024832	0.150653	0.000269013	3	50				
KIF1C	10749	broad.mit.edu	37	17	4906130	4906130	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr17:4906130C>T	ENST00000320785.5	+	8	1070	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGGCTGGACTCGGAGAAGGTG	0.632																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(712-714)tCg>tTg		kinesin family member 1C							99.0	78.0	85.0					17																	4906130		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4906130C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.713C>T	17.37:g.4906130C>T	ENSP00000320821:p.Ser238Leu						p.S238L	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			8	1070	+			238			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.713C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485385	0.63962	.	.	ENSG00000129250	ENST00000320785	T	0.75367	-0.93	5.41	5.41	0.78517	Kinesin, motor domain (4);	.	.	.	.	T	0.62146	0.2404	L	0.31294	0.92	0.53005	D	0.999965	P	0.38767	0.646	B	0.32465	0.146	T	0.62310	-0.6881	9	0.29301	T	0.29	.	17.0577	0.86539	0.0:1.0:0.0:0.0	.	238	O43896	KIF1C_HUMAN	L	238	ENSP00000320821:S238L	ENSP00000320821:S238L	S	+	2	0	KIF1C	4846854	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.674000	0.83992	2.714000	0.92807	0.561000	0.74099	TCG		0.632	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			6	56	0	0	0	0.217242	0	6	56				
KMT2C	58508	broad.mit.edu	37	7	151878929	151878929	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151878929G>A	ENST00000262189.6	-	36	6234	c.6016C>T	c.(6016-6018)Cac>Tac	p.H2006Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H2006Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2006	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTAGTAAAGTGATCACTGGTT	0.463																																						ENST00000355193.2																			0											c.(6016-6018)Cac>Tac		lysine (K)-specific methyltransferase 2C							137.0	139.0	138.0					7																	151878929		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878929G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6016C>T	7.37:g.151878929G>A	ENSP00000262189:p.His2006Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.H2006Y	p.H2006Y							36	6234	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6016C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170867	0.21621	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.41400	1.0;1.0	5.59	3.77	0.43336	.	0.327152	0.21064	U	0.080775	T	0.24661	0.0598	N	0.24115	0.695	0.80722	D	1	P;P	0.47604	0.837;0.898	B;B	0.37550	0.129;0.253	T	0.02925	-1.1093	10	0.54805	T	0.06	.	7.2717	0.26260	0.1397:0.0:0.7223:0.1379	.	2006;1067	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	Y	2006	ENSP00000262189:H2006Y;ENSP00000347325:H2006Y	ENSP00000262189:H2006Y	H	-	1	0	MLL3	151509862	0.988000	0.35896	0.036000	0.18154	0.897000	0.52465	2.712000	0.47186	0.720000	0.32209	0.558000	0.71614	CAC		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	201	0	0	0	0.520397	0	15	201				
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	byFrequency	TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1				espin pseudogene																		TGTGGGGCTCCGGACTGGTAA	0.692																																						ENST00000492551.1																			0																																																			0							g.chr1:17023143C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023143C>T								NR_026567.1						0	1720	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.692	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			8	25	0	0	0	0.307466	0	8	25				
NBPF10	100132406	broad.mit.edu	37	1	145368466	145368466	+	Missense_Mutation	SNP	G	G	A	rs587649731	byFrequency	TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:145368466G>A	ENST00000369339.3	+	17	2051	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	NBPF10_ENST00000369338.1_Missense_Mutation_p.E598K|NBPF10_ENST00000342960.5_Missense_Mutation_p.E3482K			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	777	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGGAAGTGGAAGAGCGTGA	0.468																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10444-10446)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145368466G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1798G>A	1.37:g.145368466G>A	ENSP00000358345:p.Glu600Lys					NBPF10_ENST00000369338.1_Missense_Mutation_p.E598K|NBPF10_ENST00000369339.2_Missense_Mutation_p.E600K	p.E3482K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10479	+	all_hematologic(923;0.032)		3482					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10444G>A		.	.	.	.	.	.	.	.	.	.	.	2.896	-0.228533	0.06022	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.09630	2.96;2.96	0.732	-0.352	0.12598	.	.	.	.	.	T	0.02119	0.0066	L	0.33245	0.995	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45116	-0.9283	9	0.48119	T	0.1	.	3.1395	0.06451	0.3525:0.0:0.6475:0.0	.	546	Q4VC10	.	K	602;598;3482	ENSP00000358344:E598K;ENSP00000345684:E3482K	ENSP00000345684:E3482K	E	+	1	0	NBPF10	144079823	0.003000	0.15002	0.002000	0.10522	0.029000	0.11900	0.222000	0.17699	-0.136000	0.11475	0.384000	0.25694	GAA		0.468	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		30	494	0	0	0	0.750413	0	30	494				
AIM1	202	broad.mit.edu	37	6	106992466	106992466	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr6:106992466C>T	ENST00000369066.3	+	10	4323	c.3836C>T	c.(3835-3837)cCt>cTt	p.P1279L	AIM1_ENST00000535438.1_Missense_Mutation_p.P98L|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TATGAGAAACCTGGATTTACC	0.398																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3835-3837)cCt>cTt		absent in melanoma 1							91.0	90.0	90.0					6																	106992466		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992466C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3836C>T	6.37:g.106992466C>T	ENSP00000358062:p.Pro1279Leu					AIM1_ENST00000535438.1_Missense_Mutation_p.P98L|AIM1_ENST00000487681.1_3'UTR	p.P1279L	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	10	4323	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1279			Beta/gamma crystallin 'Greek key' 6.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3836C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980451	0.74474	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.79653	-1.29;-1.29;-1.29	5.85	4.97	0.65823	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.235453	0.51477	D	0.000083	D	0.87124	0.6099	M	0.92459	3.31	0.58432	D	0.999999	P;B	0.46512	0.879;0.062	P;B	0.51550	0.673;0.219	D	0.90337	0.4356	10	0.87932	D	0	.	16.6231	0.84935	0.0:0.8656:0.1344:0.0	.	98;1279	B4DU04;Q9Y4K1	.;AIM1_HUMAN	L	1279;98;98	ENSP00000358062:P1279L;ENSP00000391419:P98L;ENSP00000439183:P98L	ENSP00000358062:P1279L	P	+	2	0	AIM1	107099159	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.154000	0.42291	1.440000	0.47531	0.655000	0.94253	CCT		0.398	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			4	69	0	0	0	0.184627	0	4	69				
TIPIN	54962	broad.mit.edu	37	15	66633685	66633685	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr15:66633685G>A	ENST00000261881.4	-	7	570	c.485C>T	c.(484-486)gCg>gTg	p.A162V	TIPIN_ENST00000367709.4_Missense_Mutation_p.A61V	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	162					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATTATTCTCCGCAACTTCATC	0.363																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(484-486)gCg>gTg		TIMELESS interacting protein							57.0	51.0	53.0					15																	66633685		2201	4299	6500	SO:0001583	missense	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66633685G>A	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.485C>T	15.37:g.66633685G>A	ENSP00000261881:p.Ala162Val					TIPIN_ENST00000367709.4_Missense_Mutation_p.A61V	p.A162V	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN			7	570	-			162					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.485C>T	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	G	9.097	1.003110	0.19121	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.15834	2.39;2.64	5.61	-4.45	0.03546	Replication fork protection component Swi3 (1);	1.005110	0.08001	N	0.988705	T	0.07999	0.0200	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.37361	-0.9709	10	0.28530	T	0.3	-0.6169	1.7613	0.02992	0.172:0.3369:0.2706:0.2204	.	162	Q9BVW5	TIPIN_HUMAN	V	61;162	ENSP00000356682:A61V;ENSP00000261881:A162V	ENSP00000261881:A162V	A	-	2	0	TIPIN	64420739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.113000	0.03296	-0.606000	0.05746	-1.310000	0.01310	GCG		0.363	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		3	24	0	0	0	0.115264	0	3	24				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	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)	ENST00000288602.6	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(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)	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		v-raf murine sarcoma viral oncogene homolog B	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_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	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		19	52	0	0	0	0.575678	0	19	52				
KMT2C	58508	broad.mit.edu	37	7	151879081	151879081	+	Missense_Mutation	SNP	G	G	A	rs375733941		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151879081G>A	ENST00000262189.6	-	36	6082	c.5864C>T	c.(5863-5865)tCt>tTt	p.S1955F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S1955F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1955	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGTCGTGGAAGAAGAACATAA	0.463																																						ENST00000355193.2																			0											c.(5863-5865)tCt>tTt		lysine (K)-specific methyltransferase 2C							154.0	161.0	159.0					7																	151879081		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151879081G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5864C>T	7.37:g.151879081G>A	ENSP00000262189:p.Ser1955Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.S1955F	p.S1955F							36	6082	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5864C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753264	0.49362	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.56941	0.43;0.43	5.41	5.41	0.78517	.	0.000000	0.43416	U	0.000561	T	0.52661	0.1748	L	0.29908	0.895	0.80722	D	1	P;D	0.55172	0.664;0.97	B;P	0.52856	0.317;0.711	T	0.56625	-0.7948	10	0.87932	D	0	.	13.4865	0.61369	0.0751:0.0:0.9249:0.0	.	1955;1016	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	F	1955	ENSP00000262189:S1955F;ENSP00000347325:S1955F	ENSP00000262189:S1955F	S	-	2	0	MLL3	151510014	1.000000	0.71417	0.953000	0.39169	0.791000	0.44710	6.768000	0.74980	2.540000	0.85666	0.563000	0.77884	TCT		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			12	210	0	0	0	0.457914	0	12	210				
PLP1	5354	broad.mit.edu	37	X	103042822	103042822	+	Silent	SNP	C	C	T	rs184166250		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chrX:103042822C>T	ENST00000303958.2	+	4	695	c.549C>T	c.(547-549)acC>acT	p.T183T	PLP1_ENST00000361621.2_Silent_p.T148T|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Silent_p.T183T	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	183			T -> N (in HLD1). {ECO:0000269|PubMed:10417279}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CCTGGACCACCTGCCAGTCTA	0.527																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(547-549)acC>acT		proteolipid protein 1							205.0	146.0	166.0					X																	103042822		2203	4300	6503	SO:0001819	synonymous_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103042822C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.549C>T	X.37:g.103042822C>T						PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Silent_p.T183T|PLP1_ENST00000361621.2_Silent_p.T148T	p.T183T	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			5	829	+			183		T -> N (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Silent	SNP	ENST00000303958.2	37	c.549C>T	CCDS14513.1																																																																																				0.527	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			33	92	0	0	0	0.769981	0	33	92				
BOD1L1	259282	broad.mit.edu	37	4	13593582	13593582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr4:13593582delG	ENST00000040738.5	-	13	8248	c.8113delC	c.(8113-8115)cagfs	p.Q2705fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2705						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGCTCCCTCTGGAGTTCAGCT	0.308																																						ENST00000040738.5																			0											c.(8113-8115)agfs		biorientation of chromosomes in cell division 1-like 1							48.0	48.0	48.0					4																	13593582		2199	4293	6492	SO:0001589	frameshift_variant	259282						DNA binding	g.chr4:13593582delG	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8113delC	4.37:g.13593582delG	ENSP00000040738:p.Gln2705fs						p.Q2705fs	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			13	8248	-			2705					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Del	DEL	ENST00000040738.5	37	c.8113delC	CCDS3411.2																																																																																				0.308	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		2	4						2	4	---	---	---	---
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			0							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			2	4						2	4	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000509083.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Splice_Site|TMEM199_ENST00000395404.3_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		4	5						4	5	---	---	---	---
