#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
BRCA2	675	broad.mit.edu	37	13	32913950	32913950	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr13:32913950T>C	ENST00000380152.3	+	11	5691	c.5458T>C	c.(5458-5460)Tgc>Cgc	p.C1820R	BRCA2_ENST00000544455.1_Missense_Mutation_p.C1820R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1820					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCTTCACCCTGCAAAAATAA	0.353			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(5458-5460)Tgc>Cgc	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							64.0	70.0	68.0					13																	32913950		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	g.chr13:32913950T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5458T>C	13.37:g.32913950T>C	ENSP00000369497:p.Cys1820Arg	TCGA Ovarian(8;0.087)	Somatic					p.C1820R	NM_000059	NP_000050	WXS	Illumina GAIIx	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	5685	+		Lung SC(185;0.0262)	1820					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5458T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	7.566	0.665725	0.14710	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00686	5.85;5.85	5.24	-0.553	0.11815	.	0.585491	0.17926	N	0.157322	T	0.00936	0.0031	M	0.65975	2.015	0.09310	N	0.999992	B	0.16396	0.017	B	0.15052	0.012	T	0.44787	-0.9305	10	0.25751	T	0.34	.	5.1647	0.15079	0.123:0.2858:0.0:0.5912	.	1820	P51587	BRCA2_HUMAN	R	1820	ENSP00000369497:C1820R;ENSP00000439902:C1820R	ENSP00000369497:C1820R	C	+	1	0	BRCA2	31811950	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.103000	0.10940	0.126000	0.18424	0.533000	0.62120	TGC		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		3	95	0	0	0	1	0	3	95				
SOX12	6666	broad.mit.edu	37	20	306862	306862	+	Silent	SNP	C	C	T			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:306862C>T	ENST00000342665.2	+	1	624	c.294C>T	c.(292-294)ctC>ctT	p.L98L	SOX12_ENST00000544632.1_Silent_p.L98L|RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	98					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGCTGCGGCTCAAGCACATGG	0.701																																						uc002wdh.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(292-294)ctC>ctT		Homo sapiens SRY (sex determining region Y)-box 12 (SOX12), mRNA.							14.0	16.0	15.0					20																	306862		2200	4289	6489	SO:0001819	synonymous_variant	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:306862C>T	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.294C>T	20.37:g.306862C>T			Somatic					p.L98L	NM_006943	NP_008874	WXS	Illumina GAIIx	Phase_I	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		0	624	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	98					Q5D038|Q9NUD4	Silent	SNP	ENST00000342665.2	37	c.294C>T	CCDS12995.1																																																																																				0.701	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		3	13	0	0	0	1	0	3	13				
WNK2	65268	broad.mit.edu	37	9	96051588	96051588	+	Missense_Mutation	SNP	C	C	G	rs570121640|rs35091400		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr9:96051588C>G	ENST00000297954.4	+	20	4663	c.4663C>G	c.(4663-4665)Ccc>Gcc	p.P1555A	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P1518A|WNK2_ENST00000349097.3_Missense_Mutation_p.P1167A|WNK2_ENST00000427277.2_Missense_Mutation_p.P1130A|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1555					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						CCCAAGCCCACCCCTGGGGCC	0.721																																						uc004ati.1																			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.(4663-4665)Ccc>Gcc		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							7.0	9.0	8.0					9																	96051588		2165	4238	6403	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051588C>G	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.4663C>G	9.37:g.96051588C>G	ENSP00000297954:p.Pro1555Ala		Somatic				WNK2_uc011lud.1_Missense_Mutation_p.P1518A|WNK2_uc004atj.3_Missense_Mutation_p.P1518A|WNK2_uc004atk.3_Missense_Mutation_p.P1155A|WNK2_uc004atl.1_Missense_Mutation_p.P113A	p.P1555A	NM_006648	NP_006639	WXS	Illumina GAIIx	Phase_I	Q9Y3S1	WNK2_HUMAN			19	4663	+			1555					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4663C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.93|16.93|16.93	3.257470|3.257470|3.257470	0.59321|0.59321|0.59321	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	.|T;T;T;T|.	.|0.24723|.	.|1.84;1.84;1.84;1.84|.	5.32|5.32|5.32	4.41|4.41|4.41	0.53225|0.53225|0.53225	.|.|.	.|0.116446|.	.|0.64402|.	.|N|.	.|0.000014|.	T|T|T	0.64271|0.64271|0.64271	0.2583|0.2583|0.2583	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;B;D;D|.	.|0.71674|.	.|0.989;0.981;0.39;0.998;0.981|.	.|P;P;B;D;P|.	.|0.78314|.	.|0.889;0.777;0.054;0.991;0.76|.	T|T|T	0.62656|0.62656|0.62656	-0.6808|-0.6808|-0.6808	5|10|5	.|0.36615|.	.|T|.	.|0.2|.	.|.|.	13.4286|13.4286|13.4286	0.61042|0.61042|0.61042	0.344:0.656:0.0:0.0|0.344:0.656:0.0:0.0|0.344:0.656:0.0:0.0	.|.|.	.|1518;1513;1121;1518;1555|.	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.	.|.;.;.;.;WNK2_HUMAN|.	Q|A|S	1513;314;40|1555;1518;1167;1130|1121	.|ENSP00000297954:P1555A;ENSP00000378860:P1518A;ENSP00000297876:P1167A;ENSP00000411181:P1130A|.	.|ENSP00000297954:P1555A|.	H|P|T	+|+|+	3|1|2	2|0|0	WNK2|WNK2|WNK2	95091409|95091409|95091409	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.969000|0.969000|0.969000	0.41365|0.41365|0.41365	0.826000|0.826000|0.826000	0.46750|0.46750|0.46750	0.422000|0.422000|0.422000	0.21296|0.21296|0.21296	1.229000|1.229000|1.229000	0.43630|0.43630|0.43630	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	CAC|CCC|ACC		0.721	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		6	14	0	0	0	1	0	6	14				
FLG	2312	broad.mit.edu	37	1	152285608	152285608	+	Missense_Mutation	SNP	C	C	T	rs372282962		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:152285608C>T	ENST00000368799.1	-	3	1789	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	585	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACGTGACCCTGAGTGCCT	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1753-1755)gGg>gAg		Homo sapiens filaggrin (FLG), mRNA.		C	GLU/GLY	1,4405		0,1,2202	387.0	364.0	372.0		1754	0.2	0.0	1		372	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	585/4062	152285608	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285608C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1754G>A	1.37:g.152285608C>T	ENSP00000357789:p.Gly585Glu		Somatic				AK056431_uc001ezv.3_5'Flank	p.G585E	NM_002016	NP_002007	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1790	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		585			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1754G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.903	0.956800	0.18507	2.27E-4	0.0	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.02236	4.38	2.49	0.217	0.15264	.	.	.	.	.	T	0.03520	0.0101	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33879	-0.9851	9	0.33141	T	0.24	.	4.35	0.11151	0.2744:0.4844:0.2412:0.0	.	585	P20930	FILA_HUMAN	E	585;117	ENSP00000357789:G585E	ENSP00000357789:G585E	G	-	2	0	FLG	150552232	0.000000	0.05858	0.016000	0.15963	0.011000	0.07611	-0.341000	0.07811	-0.081000	0.12662	0.603000	0.83216	GGG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		26	356	0	0	0	1	0	26	356				
BOC	91653	broad.mit.edu	37	3	113005568	113005568	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr3:113005568T>G	ENST00000495514.1	+	20	3908	c.3204T>G	c.(3202-3204)agT>agG	p.S1068R	BOC_ENST00000355385.3_Missense_Mutation_p.S1068R|BOC_ENST00000273395.4_Missense_Mutation_p.S1069R			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1068					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGTGGACAGTCCTGACTCCT	0.597																																						uc003dzz.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3205-3207)agT>agG		Homo sapiens Boc homolog (mouse) (BOC), mRNA.							164.0	175.0	171.0					3																	113005568		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113005568T>G	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3204T>G	3.37:g.113005568T>G	ENSP00000418663:p.Ser1068Arg		Somatic				BOC_uc003dzx.3_Missense_Mutation_p.S1068R|BOC_uc003dzy.3_Missense_Mutation_p.S1068R|BOC_uc003eab.3_Missense_Mutation_p.S769R|BOC_uc003eac.3_Missense_Mutation_p.S383R	p.S1069R	NM_033254	NP_150279	WXS	Illumina GAIIx	Phase_I	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		19	3546	+			1068					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.3207T>G	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685488	0.29872	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.59083	0.29;0.3;0.29	5.51	1.89	0.25635	.	0.305004	0.34986	N	0.003528	T	0.30262	0.0759	N	0.17082	0.46	0.26177	N	0.979775	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.001	T	0.04737	-1.0930	10	0.20046	T	0.44	.	0.7984	0.01070	0.1658:0.2688:0.1513:0.4142	.	885;1069;1068	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	R	1068;1069;1068	ENSP00000418663:S1068R;ENSP00000273395:S1069R;ENSP00000347546:S1068R	ENSP00000273395:S1069R	S	+	3	2	BOC	114488258	0.567000	0.26626	0.998000	0.56505	0.989000	0.77384	0.732000	0.26072	0.541000	0.28827	0.459000	0.35465	AGT		0.597	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		4	303	0	0	0	1	0	4	303				
GRM6	2916	broad.mit.edu	37	5	178418557	178418557	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr5:178418557C>G	ENST00000517717.1	-	4	763	c.725G>C	c.(724-726)gGg>gCg	p.G242A	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.G242A			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	242					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AATACAGACCCCCCCTGGGCG	0.627																																						uc003mjr.3																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(724-726)gGg>gCg		Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.							132.0	134.0	134.0					5																	178418557		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418557C>G	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.725G>C	5.37:g.178418557C>G	ENSP00000430767:p.Gly242Ala		Somatic				GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	p.G242A	NM_000843	NP_000834	WXS	Illumina GAIIx	Phase_I	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	2	904	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	242						Missense_Mutation	SNP	ENST00000517717.1	37	c.725G>C	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036633	0.75617	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.91521	-2.86;-2.86	5.35	4.46	0.54185	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.96024	0.8705	M	0.93197	3.39	0.50039	D	0.999845	D	0.63046	0.992	D	0.65773	0.938	D	0.96452	0.9335	9	0.54805	T	0.06	.	14.0187	0.64541	0.0:0.8472:0.1528:0.0	.	242	O15303	GRM6_HUMAN	A	242	ENSP00000231188:G242A;ENSP00000430767:G242A	ENSP00000231188:G242A	G	-	2	0	GRM6	178351163	1.000000	0.71417	0.919000	0.36401	0.993000	0.82548	7.496000	0.81526	1.367000	0.46095	0.561000	0.74099	GGG		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			46	138	0	0	0	1	0	46	138				
PYGO1	26108	broad.mit.edu	37	15	55839051	55839051	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr15:55839051G>A	ENST00000302000.6	-	3	524	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PYGO1_ENST00000563719.1_Missense_Mutation_p.H144Y	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	144					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTAAAAGCATGAGGTCGATTA	0.423																																						uc010bfl.1																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(430-432)Cat>Tat		Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.							103.0	100.0	101.0					15																	55839051		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55839051G>A	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.430C>T	15.37:g.55839051G>A	ENSP00000302327:p.His144Tyr		Somatic				PYGO1_uc002adf.1_Missense_Mutation_p.H144Y	p.H144Y	NM_015617	NP_056432	WXS	Illumina GAIIx	Phase_I	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	2	486	-			144					A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.430C>T	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960698	0.53400	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.47528	0.84	5.09	5.09	0.68999	.	0.129398	0.51477	D	0.000097	T	0.43322	0.1242	L	0.27053	0.805	0.46298	D	0.998974	D;D	0.53885	0.963;0.963	P;P	0.49999	0.628;0.528	T	0.40289	-0.9571	10	0.62326	D	0.03	-17.9948	11.3578	0.49625	0.0829:0.0:0.9171:0.0	.	144;144	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	Y	144	ENSP00000302327:H144Y	ENSP00000302327:H144Y	H	-	1	0	PYGO1	53626343	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.493000	0.60341	2.513000	0.84729	0.585000	0.79938	CAT		0.423	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		30	52	0	0	0	1	0	30	52				
SLC7A11	23657	broad.mit.edu	37	4	139157528	139157528	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:139157528C>A	ENST00000280612.5	-	2	634	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	119					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GGTAATGGACCAAAGACTTCC	0.338																																						uc021xrw.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(355-357)Ggt>Tgt		Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						92.0	95.0	94.0					4																	139157528		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139157528C>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.355G>T	4.37:g.139157528C>A	ENSP00000280612:p.Gly119Cys		Somatic					p.G119C	NM_014331	NP_055146	WXS	Illumina GAIIx	Phase_I	Q9UPY5	XCT_HUMAN			1	635	-	all_hematologic(180;0.166)		119					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.355G>T	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104630	0.94245	.	.	ENSG00000151012	ENST00000280612	D	0.91351	-2.83	5.71	5.71	0.89125	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98130	1.0430	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	119	Q9UPY5	XCT_HUMAN	C	119	ENSP00000280612:G119C	ENSP00000280612:G119C	G	-	1	0	SLC7A11	139376978	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.736000	0.84948	2.687000	0.91594	0.655000	0.94253	GGT		0.338	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			20	49	0	0	0	1	0	20	49				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	34	0	0	0	1	0	26	34				
KLC2	64837	broad.mit.edu	37	11	66033332	66033332	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr11:66033332A>G	ENST00000417856.1	+	13	1694	c.1451A>G	c.(1450-1452)gAc>gGc	p.D484G	RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394066.2_Missense_Mutation_p.D407G|KLC2_ENST00000394067.2_Missense_Mutation_p.D484G|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000421552.1_Missense_Mutation_p.D407G|KLC2_ENST00000394065.2_Missense_Mutation_p.D345G|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000316924.5_Missense_Mutation_p.D484G	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	484					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGGGTTTGGACCCCGCAAGC	0.672																																						uc010rov.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1450-1452)gAc>gGc		Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.							42.0	42.0	42.0					11																	66033332		2200	4294	6494	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66033332A>G	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1451A>G	11.37:g.66033332A>G	ENSP00000399403:p.Asp484Gly		Somatic				KLC2_uc010row.1_Missense_Mutation_p.D484G|KLC2_uc001ohb.2_Missense_Mutation_p.D484G|KLC2_uc010rox.1_Missense_Mutation_p.D407G|KLC2_uc001ohc.2_Missense_Mutation_p.D484G|KLC2_uc001ohd.2_Missense_Mutation_p.D407G|KLC2_uc001ohe.1_Missense_Mutation_p.D345G|RAB1B_uc001ohf.3_5'Flank	p.D484G	NM_001134775	NP_073733	WXS	Illumina GAIIx	Phase_I	Q9H0B6	KLC2_HUMAN			12	1694	+			484					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.1451A>G	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649343	0.67358	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.87412	-1.44;-1.44;-1.44;-1.48;-1.48;-2.25	3.71	3.71	0.42584	.	0.000000	0.64402	D	0.000001	D	0.90410	0.6998	M	0.72894	2.215	0.58432	D	0.999996	D;D;B	0.69078	0.997;0.997;0.008	D;D;B	0.83275	0.996;0.994;0.139	D	0.87929	0.2709	10	0.07175	T	0.84	-31.4217	11.5279	0.50591	1.0:0.0:0.0:0.0	.	345;407;484	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	G	484;484;484;407;407;345	ENSP00000399403:D484G;ENSP00000377631:D484G;ENSP00000314837:D484G;ENSP00000408484:D407G;ENSP00000377630:D407G;ENSP00000377629:D345G	ENSP00000314837:D484G	D	+	2	0	KLC2	65789908	0.999000	0.42202	1.000000	0.80357	0.762000	0.43233	3.905000	0.56333	1.565000	0.49641	0.402000	0.26972	GAC		0.672	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		3	66	0	0	0	1	0	3	66				
PAK7	57144	broad.mit.edu	37	20	9546574	9546574	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:9546574C>T	ENST00000378429.3	-	6	1994	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	PAK7_ENST00000378423.1_Missense_Mutation_p.R483Q|PAK7_ENST00000353224.5_Missense_Mutation_p.R483Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R483Q(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTTGCTTCCGGAGGTCCAT	0.438																																						uc002wnl.2																			2	Substitution - Missense(2)	p.R483Q(4)	large_intestine(1)|central_nervous_system(1)	NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1447-1449)cGg>cAg		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.							267.0	248.0	255.0					20																	9546574		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546574C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1448G>A	20.37:g.9546574C>T	ENSP00000367686:p.Arg483Gln		Somatic				PAK7_uc002wnk.2_Missense_Mutation_p.R483Q|PAK7_uc002wnj.2_Missense_Mutation_p.R483Q|PAK7_uc010gby.1_Missense_Mutation_p.R483Q	p.R483Q	NM_020341	NP_817127	WXS	Illumina GAIIx	Phase_I	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1993	-			483			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1448G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345104	0.95807	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.65916	-0.18;-0.18;-0.18	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	N	0.25485	0.75	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.51135	0.66;0.66	T	0.58470	-0.7631	9	.	.	.	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	483;483	B0AZM9;Q9P286	.;PAK7_HUMAN	Q	483;483;483;431	ENSP00000367686:R483Q;ENSP00000322957:R483Q;ENSP00000367679:R483Q	.	R	-	2	0	PAK7	9494574	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.818000	0.86416	2.452000	0.82932	0.460000	0.39030	CGG		0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			26	170	0	0	0	1	0	26	170				
FABP3	2170	broad.mit.edu	37	1	31845844	31845844	+	Silent	SNP	C	C	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:31845844C>A	ENST00000373713.2	-	1	79	c.18G>T	c.(16-18)ctG>ctT	p.L6L		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	6					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		TCCAGGTGCCCAGGAAAGCGT	0.612																																						uc001bss.1																			0		p.L6R(1)		large_intestine(1)|lung(2)|ovary(2)	5						c.(16-18)ctG>ctT		Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.							87.0	76.0	80.0					1																	31845844		2203	4300	6503	SO:0001819	synonymous_variant	2170				negative regulation of cell proliferation			g.chr1:31845844C>A	U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.18G>T	1.37:g.31845844C>A			Somatic					p.L6L	NM_004102	NP_004093	WXS	Illumina GAIIx	Phase_I	P05413	FABPH_HUMAN		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)	0	80	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	6					B2RAB6|Q5VV93|Q99957	Silent	SNP	ENST00000373713.2	37	c.18G>T	CCDS342.1																																																																																				0.612	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		4	50	0	0	0	1	0	4	50				
IL17REL	400935	broad.mit.edu	37	22	50436469	50436469	+	Silent	SNP	G	G	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr22:50436469G>A	ENST00000389983.2	-	11	1068	c.804C>T	c.(802-804)ccC>ccT	p.P268P	IL17REL_ENST00000341280.5_Silent_p.P268P	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	268										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGAGCTGGGGCTGGGTGT	0.692																																						uc003bje.1																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(802-804)ccC>ccT		Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.							32.0	35.0	34.0					22																	50436469		2200	4283	6483	SO:0001819	synonymous_variant	400935							g.chr22:50436469G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.804C>T	22.37:g.50436469G>A			Somatic					p.P268P	NM_001001694	NP_001001694	WXS	Illumina GAIIx	Phase_I	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	10	1036	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	268					A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	c.804C>T	CCDS33679.1																																																																																				0.692	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		14	52	0	0	0	1	0	14	52				
SORBS2	8470	broad.mit.edu	37	4	186578641	186578641	+	Silent	SNP	T	T	C			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:186578641T>C	ENST00000284776.7	-	6	713	c.204A>G	c.(202-204)aaA>aaG	p.K68K	SORBS2_ENST00000355634.5_Silent_p.K168K|SORBS2_ENST00000418609.1_5'Flank|SORBS2_ENST00000319471.9_Silent_p.K154K|SORBS2_ENST00000498125.1_5'Flank|SORBS2_ENST00000393528.3_Silent_p.K114K|SORBS2_ENST00000437304.2_Silent_p.K247K|SORBS2_ENST00000449407.2_Silent_p.K154K|SORBS2_ENST00000448662.2_Silent_p.K137K|SORBS2_ENST00000431808.1_Silent_p.K68K	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	68	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATGCGGGGCTTTGATGACTG	0.567																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyg.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(460-462)aaA>aaG		Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.							115.0	110.0	112.0					4																	186578641		2203	4300	6503	SO:0001819	synonymous_variant	8470					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186578641T>C		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.204A>G	4.37:g.186578641T>C			Somatic				SORBS2_uc003iyh.3_Silent_p.K247K|SORBS2_uc011ckw.2_Silent_p.K137K|SORBS2_uc003iyi.3_Silent_p.K154K|SORBS2_uc011ckx.2_Silent_p.K114K|SORBS2_uc003iyk.3_Silent_p.K154K|SORBS2_uc003iym.3_Silent_p.K168K|SORBS2_uc003iyl.3_Silent_p.K68K|SORBS2_uc003iyn.1_Silent_p.K114K|SORBS2_uc011cky.1_Silent_p.K131K|SORBS2_uc011cku.2_5'Flank|SORBS2_uc011ckv.2_5'Flank|SORBS2_uc003iyd.3_Silent_p.K247K|SORBS2_uc003iye.3_Silent_p.K68K|SORBS2_uc003iya.3_Silent_p.K68K|SORBS2_uc003iyb.3_Silent_p.K68K|SORBS2_uc003iyc.3_Silent_p.K68K|SORBS2_uc003iyf.3_Silent_p.K131K|SORBS2_uc003iyo.1_5'Flank	p.K154K	NM_021069	NP_066547	WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	4	494	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	68					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.462A>G	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385604	0.25031	.	.	ENSG00000154556	ENST00000438278	.	.	.	4.88	-1.58	0.08479	.	.	.	.	.	T	0.55369	0.1916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50866	-0.8777	4	.	.	.	-26.7233	10.1656	0.42877	0.0:0.4221:0.0:0.5779	.	.	.	.	G	12	.	.	S	-	1	0	SORBS2	186815635	0.997000	0.39634	0.991000	0.47740	0.887000	0.51463	0.338000	0.19858	-0.320000	0.08640	0.460000	0.39030	AGC		0.567	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	43	0	0	0	1	0	7	43				
APOBEC2	10930	broad.mit.edu	37	6	41029581	41029583	+	In_Frame_Del	DEL	GAG	GAG	-	rs150558136		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr6:41029581_41029583delGAG	ENST00000244669.2	+	2	690_692	c.646_648delGAG	c.(646-648)gagdel	p.E217del		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	217					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTATACTACGAGGAGAAGTTGG	0.483																																					Ovarian(118;1320 2185 8096 29684)	uc003opl.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(646-648)gagdel		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.				1,4263		0,1,2131						-11.8	0.0			67	1,8253		0,1,4126	no	coding	APOBEC2	NM_006789.3		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001651	inframe_deletion	10930				DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding	g.chr6:41029581_41029583delGAG	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.646_648delGAG	6.37:g.41029584_41029586delGAG	ENSP00000244669:p.Glu217del		Somatic				UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	p.E217del	NM_006789	NP_006780	WXS	Illumina GAIIx	Phase_I	Q9Y235	ABEC2_HUMAN			1	793_795	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		217					B2R899|Q53F28|Q5TGU5|Q5TGU6	In_Frame_Del	DEL	ENST00000244669.2	37	c.646_648delGAG	CCDS4848.1																																																																																				0.483	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		34	64						34	64	---	---	---	---
CUEDC1	404093	broad.mit.edu	37	17	55962647	55962647	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr17:55962647delG	ENST00000577830.1	-	2	692	c.279delC	c.(277-279)ggcfs	p.G93fs	CUEDC1_ENST00000360238.2_Frame_Shift_Del_p.G93fs|CUEDC1_ENST00000407144.2_Frame_Shift_Del_p.G93fs|CUEDC1_ENST00000577840.1_Intron	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	93										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGCCGCTGCTGCCACCGCCCT	0.642																																						uc002ivd.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(277-279)ggcfs		Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.							39.0	43.0	41.0					17																	55962647		2202	4299	6501	SO:0001589	frameshift_variant	404093							g.chr17:55962647delG	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.279delC	17.37:g.55962647delG	ENSP00000462717:p.Gly93fs		Somatic				CUEDC1_uc002ive.1_Frame_Shift_Del_p.G93fs	p.G93fs	NM_017949	NP_060419	WXS	Illumina GAIIx	Phase_I	Q9NWM3	CUED1_HUMAN			1	998	-			93					D3DTZ2|Q9NWD0	Frame_Shift_Del	DEL	ENST00000577830.1	37	c.279delC	CCDS11599.1																																																																																				0.642	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		40	71						40	71	---	---	---	---
