#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
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		31	31	0	0	0	1	0	31	31				
ELP4	26610	broad.mit.edu	37	11	31805046	31805046	+	Missense_Mutation	SNP	G	G	A	rs3026403		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:31805046G>A	ENST00000350638.5	+	10	1284	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q|ELP4_ENST00000395934.2_3'UTR|Z83307.3_ENST00000606377.1_lincRNA	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	417					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CATGATGGCCGGAGGCAAGAA	0.498																																						ENST00000350638.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(1249-1251)Gga>Aga		elongator acetyltransferase complex subunit 4							59.0	68.0	65.0					11																	31805046		1941	4139	6080	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31805046G>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1249G>A	11.37:g.31805046G>A	ENSP00000298937:p.Gly417Arg					ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q	p.G417R	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN			10	1284	+	Lung SC(675;0.225)		417					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.1249G>A	CCDS7875.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.22|18.22	3.575195|3.575195	0.65878|0.65878	.|.	.|.	ENSG00000109911|ENSG00000109911	ENST00000350638|ENST00000379163	T|T	0.41758|0.43688	0.99|0.94	5.73|5.73	0.681|0.681	0.17986|0.17986	.|.	.|.	.|.	.|.	.|.	T|T	0.34366|0.34366	0.0895|0.0895	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	B|B	0.17268|0.16802	0.021|0.019	B|B	0.12837|0.04013	0.008|0.001	T|T	0.19192|0.19192	-1.0313|-1.0313	9|9	0.33940|0.87932	T|D	0.23|0	.|.	5.652|5.652	0.17622|0.17622	0.3912:0.1362:0.4726:0.0|0.3912:0.1362:0.4726:0.0	.|.	417|464	Q96EB1|B4E3W0	ELP4_HUMAN|.	R|Q	417|464	ENSP00000298937:G417R|ENSP00000368461:R464Q	ENSP00000298937:G417R|ENSP00000368461:R464Q	G|R	+|+	1|2	0|0	ELP4|ELP4	31761622|31761622	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	1.254000|1.254000	0.32897|0.32897	0.156000|0.156000	0.19299|0.19299	0.557000|0.557000	0.71058|0.71058	GGA|CGG		0.498	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		3	38	0	0	0	1	0	3	38				
AHNAK	79026	broad.mit.edu	37	11	62297449	62297449	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:62297449T>C	ENST00000378024.4	-	5	4714	c.4440A>G	c.(4438-4440)atA>atG	p.I1480M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1480					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGAGCTTTTATCTCTCCTT	0.423																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4438-4440)atA>atG		AHNAK nucleoprotein							163.0	169.0	167.0					11																	62297449		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297449T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4440A>G	11.37:g.62297449T>C	ENSP00000367263:p.Ile1480Met					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.I1480M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4714	-		Melanoma(852;0.155)	1480					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4440A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.621323	0.00820	.	.	ENSG00000124942	ENST00000378024	T	0.00695	5.83	4.47	-6.78	0.01721	.	.	.	.	.	T	0.00468	0.0015	N	0.17872	0.535	0.19775	N	0.99996	B	0.11235	0.004	B	0.12156	0.007	T	0.47275	-0.9130	9	0.19147	T	0.46	.	0.3103	0.00287	0.2511:0.2535:0.2514:0.244	.	1480	Q09666	AHNK_HUMAN	M	1480	ENSP00000367263:I1480M	ENSP00000367263:I1480M	I	-	3	3	AHNAK	62054025	.	.	0.098000	0.21074	0.004000	0.04260	.	.	-1.179000	0.02737	-1.273000	0.01405	ATA		0.423	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		92	120	0	0	0	1	0	92	120				
SYNE1	23345	broad.mit.edu	37	6	152590365	152590365	+	Silent	SNP	G	G	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr6:152590365G>A	ENST00000367255.5	-	99	19231	c.18630C>T	c.(18628-18630)ccC>ccT	p.P6210P	SYNE1_ENST00000356820.4_Silent_p.P734P|SYNE1_ENST00000448038.1_Silent_p.P6139P|SYNE1_ENST00000341594.5_Silent_p.P5822P|SYNE1_ENST00000265368.4_Silent_p.P6210P|SYNE1_ENST00000423061.1_Silent_p.P6139P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6210					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGGACGCCGGGGCTCTGCG	0.547										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18628-18630)ccC>ccT		spectrin repeat containing, nuclear envelope 1							146.0	117.0	127.0					6																	152590365		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152590365G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18630C>T	6.37:g.152590365G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.P5822P|SYNE1_ENST00000356820.4_Silent_p.P734P|SYNE1_ENST00000423061.1_Silent_p.P6139P|SYNE1_ENST00000448038.1_Silent_p.P6139P|SYNE1_ENST00000265368.4_Silent_p.P6210P	p.P6210P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	99	19231	-		Ovarian(120;0.0955)	6210					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.18630C>T	CCDS5236.2																																																																																				0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	48	0	0	0	1	0	29	48				
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs375829895		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGGGCTTCCTTGAGGGAGGCA	0.522																																						ENST00000603901.1																			0																																																			154754							g.chr7:142481888T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481888T>C								NR_001296.3						0	567	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	31	0	0	0	1	0	3	31				
CXorf58	254158	broad.mit.edu	37	X	23956667	23956667	+	Silent	SNP	T	T	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chrX:23956667T>A	ENST00000379211.3	+	8	1338	c.789T>A	c.(787-789)ggT>ggA	p.G263G		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	263										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTCTAGGGGTCCATACTTAA	0.333																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(787-789)ggT>ggA		chromosome X open reading frame 58							65.0	64.0	64.0					X																	23956667		2203	4300	6503	SO:0001819	synonymous_variant	254158							g.chrX:23956667T>A	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.789T>A	X.37:g.23956667T>A							p.G263G	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			8	1338	+			263						Silent	SNP	ENST00000379211.3	37	c.789T>A	CCDS14209.1																																																																																				0.333	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		4	95	0	0	0	1	0	4	95				
ATP9B	374868	broad.mit.edu	37	18	76953241	76953241	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr18:76953241G>A	ENST00000426216.2	+	9	949	c.932G>A	c.(931-933)aGt>aAt	p.S311N	ATP9B_ENST00000307671.7_Missense_Mutation_p.S311N	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	311					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GACATTCACAGTTTCGAAGGC	0.333																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(931-933)aGt>aAt		ATPase, class II, type 9B							136.0	132.0	133.0					18																	76953241		2203	4298	6501	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76953241G>A	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.932G>A	18.37:g.76953241G>A	ENSP00000398076:p.Ser311Asn					ATP9B_ENST00000307671.7_Missense_Mutation_p.S311N	p.S311N	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	9	949	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	311					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.932G>A	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209769	0.39003	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.67345	-0.23;-0.26	5.07	5.07	0.68467	ATPase, P-type, ATPase-associated domain (1);	0.146826	0.64402	D	0.000004	T	0.59321	0.2185	L	0.41236	1.265	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.012;0.007	T	0.54084	-0.8346	10	0.18710	T	0.47	.	18.8154	0.92075	0.0:0.0:1.0:0.0	.	311;311	O43861;O43861-2	ATP9B_HUMAN;.	N	311	ENSP00000398076:S311N;ENSP00000304500:S311N	ENSP00000304500:S311N	S	+	2	0	ATP9B	75054229	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.090000	0.71397	2.523000	0.85059	0.585000	0.79938	AGT		0.333	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		4	87	0	0	0	1	0	4	87				
MAP3K4	4216	broad.mit.edu	37	6	161529848	161529848	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr6:161529848A>G	ENST00000392142.4	+	22	4341	c.4193A>G	c.(4192-4194)aAa>aGa	p.K1398R	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1398	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAGGCATCAAACACCCCAAT	0.423																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4192-4194)aAa>aGa		mitogen-activated protein kinase kinase kinase 4							180.0	174.0	176.0					6																	161529848		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161529848A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4193A>G	6.37:g.161529848A>G	ENSP00000375986:p.Lys1398Arg					MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	p.K1398R	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	22	4341	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1398			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4193A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759849	0.89932	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.51	4.51	0.55191	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	0.10294	0.0252	N	0.10916	0.065	0.58432	D	0.999998	B;B;P;P	0.46142	0.026;0.004;0.715;0.873	B;B;B;P	0.48654	0.016;0.012;0.243;0.585	T	0.12116	-1.0560	10	0.30854	T	0.27	-10.7567	12.6724	0.56874	1.0:0.0:0.0:0.0	.	1394;334;1348;1398	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	R	1348;1398;1348;1394;1344	ENSP00000355886:K1348R;ENSP00000375986:K1398R;ENSP00000355887:K1394R;ENSP00000297332:K1344R	ENSP00000297332:K1344R	K	+	2	0	MAP3K4	161449838	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.245000	0.95431	1.800000	0.52685	0.528000	0.53228	AAA		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			5	141	0	0	0	1	0	5	141				
MARK2	2011	broad.mit.edu	37	11	63669773	63669773	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:63669773A>G	ENST00000509502.2	+	12	1569	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S	MARK2_ENST00000508192.1_Missense_Mutation_p.N402S|MARK2_ENST00000315032.8_Missense_Mutation_p.N402S|MARK2_ENST00000402010.2_Missense_Mutation_p.N402S|MARK2_ENST00000513765.2_Missense_Mutation_p.N369S|MARK2_ENST00000502399.3_Missense_Mutation_p.N402S|MARK2_ENST00000413835.2_Missense_Mutation_p.N402S|MARK2_ENST00000408948.3_Missense_Mutation_p.N369S|MARK2_ENST00000377810.3_Missense_Mutation_p.N369S|MARK2_ENST00000361128.5_Missense_Mutation_p.N402S|MARK2_ENST00000425897.2_Missense_Mutation_p.N369S|MARK2_ENST00000350490.7_Missense_Mutation_p.N402S|MARK2_ENST00000377809.4_Missense_Mutation_p.N402S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGTCGGCCAATCCCAAGCAG	0.592																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1204-1206)aAt>aGt		MAP/microtubule affinity-regulating kinase 2							79.0	69.0	73.0					11																	63669773		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63669773A>G	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1106A>G	11.37:g.63669773A>G	ENSP00000423974:p.Asn369Ser					MARK2_ENST00000413835.2_Missense_Mutation_p.N402S|MARK2_ENST00000350490.7_Missense_Mutation_p.N402S|MARK2_ENST00000361128.5_Missense_Mutation_p.N402S|MARK2_ENST00000425897.2_Missense_Mutation_p.N369S|MARK2_ENST00000513765.2_Missense_Mutation_p.N369S|MARK2_ENST00000377810.3_Missense_Mutation_p.N369S|MARK2_ENST00000408948.3_Missense_Mutation_p.N369S|MARK2_ENST00000502399.3_Missense_Mutation_p.N402S|MARK2_ENST00000509502.2_Missense_Mutation_p.N369S|MARK2_ENST00000377809.4_Missense_Mutation_p.N402S|MARK2_ENST00000315032.8_Missense_Mutation_p.N402S|MARK2_ENST00000508192.1_Missense_Mutation_p.N402S	p.N402S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			12	1784	+			402						Missense_Mutation	SNP	ENST00000509502.2	37	c.1205A>G	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	A	8.850	0.944425	0.18356	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.44;-0.44;-0.43;-0.46;-0.48;-0.48;-0.46;-0.47;-0.47;-0.43;-0.48;-0.5	5.07	5.07	0.68467	.	0.051440	0.85682	D	0.000000	T	0.56572	0.1994	L	0.33485	1.01	0.46823	D	0.999213	B;B;B;P;B;B	0.44429	0.024;0.013;0.013;0.835;0.011;0.004	B;B;B;B;B;B	0.41271	0.009;0.016;0.009;0.352;0.01;0.01	T	0.58891	-0.7556	10	0.05436	T	0.98	.	13.9456	0.64082	1.0:0.0:0.0:0.0	.	369;369;402;402;402;402	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	402;402;402;402;369;402;402;402;402;369;369;369;369	ENSP00000385751:N402S;ENSP00000326632:N402S;ENSP00000367040:N402S;ENSP00000389184:N402S;ENSP00000367041:N369S;ENSP00000425765:N402S;ENSP00000355091:N402S;ENSP00000294247:N402S;ENSP00000423974:N369S;ENSP00000421075:N369S;ENSP00000386128:N369S;ENSP00000415494:N369S	ENSP00000326632:N402S	N	+	2	0	MARK2	63426349	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.699000	0.47077	2.125000	0.65367	0.454000	0.30748	AAT		0.592	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		19	31	0	0	0	1	0	19	31				
SCGB3A2	117156	broad.mit.edu	37	5	147261032	147261032	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:147261032G>A	ENST00000296694.4	+	2	172	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000504320.1_5'UTR|SCGB3A2_ENST00000514688.1_3'UTR	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	27						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAACAAAGTGCCCCTTCC	0.473																																						ENST00000296694.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.(79-81)Gtg>Atg		secretoglobin, family 3A, member 2							189.0	186.0	187.0					5																	147261032		2203	4300	6503	SO:0001583	missense	117156					extracellular region	binding	g.chr5:147261032G>A	AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"""Secretoglobins"""	18391	protein-coding gene	gene with protein product	"""uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1"""	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.79G>A	5.37:g.147261032G>A	ENSP00000296694:p.Val27Met					SCGB3A2_ENST00000514688.1_3'UTR|SCGB3A2_ENST00000504320.1_5'UTR|C5orf46_ENST00000510432.1_Intron	p.V27M	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	172	+			27						Missense_Mutation	SNP	ENST00000296694.4	37	c.79G>A	CCDS4287.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338624	0.24253	.	.	ENSG00000164265	ENST00000296694	.	.	.	5.26	-10.5	0.00291	.	2.002980	0.02635	N	0.104764	T	0.35595	0.0937	.	.	.	0.09310	N	1	B	0.29085	0.232	B	0.27608	0.081	T	0.34179	-0.9839	8	0.54805	T	0.06	1.0E-4	14.6582	0.68850	0.0:0.1374:0.7295:0.1331	.	27	Q96PL1	SG3A2_HUMAN	M	27	.	ENSP00000296694:V27M	V	+	1	0	SCGB3A2	147241225	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.061000	0.03472	-1.907000	0.01087	-0.410000	0.06199	GTG		0.473	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251939.1	NM_054023		7	85	0	0	0	1	0	7	85				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR329-1_ENST00000385028.1_RNA|MIR380_ENST00000362112.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR299_ENST00000385016.2_RNA|MIR758_ENST00000390227.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			574408							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		4	167	0	0	0	1	0	4	167				
PHC3	80012	broad.mit.edu	37	3	169847313	169847313	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr3:169847313G>T	ENST00000494943.1	-	8	979	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	PHC3_ENST00000495893.2_Missense_Mutation_p.S316Y|PHC3_ENST00000467570.1_Missense_Mutation_p.S263Y			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	304					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTTATTAGAGAATGAGGCTG	0.343																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(910-912)tCt>tAt		polyhomeotic homolog 3 (Drosophila)							140.0	135.0	137.0					3																	169847313		1863	4098	5961	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169847313G>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.911C>A	3.37:g.169847313G>T	ENSP00000420271:p.Ser304Tyr					PHC3_ENST00000495893.1_Missense_Mutation_p.S316Y|PHC3_ENST00000467570.1_Missense_Mutation_p.S263Y	p.S304Y			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	979	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		304					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.911C>A		.	.	.	.	.	.	.	.	.	.	G	16.61	3.170125	0.57584	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931	T;T	0.34472	1.39;1.36	5.41	5.41	0.78517	.	0.077463	0.56097	D	0.000035	T	0.43897	0.1268	L	0.50333	1.59	0.80722	D	1	D;P;P;P	0.60160	0.987;0.873;0.94;0.655	P;P;P;B	0.51229	0.663;0.528;0.564;0.4	T	0.13818	-1.0495	10	0.16420	T	0.52	-5.6452	18.8093	0.92052	0.0:0.0:1.0:0.0	.	263;263;304;316	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	Y	304;316;263;142	ENSP00000420271:S304Y;ENSP00000420294:S316Y	ENSP00000419089:S263Y	S	-	2	0	PHC3	171330007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.549000	0.85964	0.561000	0.74099	TCT		0.343	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		12	34	1	0	3.27435e-08	1	3.39129e-08	12	34				
ACAD10	80724	broad.mit.edu	37	12	112165863	112165863	+	Missense_Mutation	SNP	A	A	G	rs530140051		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr12:112165863A>G	ENST00000313698.4	+	9	1314	c.1159A>G	c.(1159-1161)Ata>Gta	p.I387V	ACAD10_ENST00000549590.1_Missense_Mutation_p.I387V|ACAD10_ENST00000455480.2_Missense_Mutation_p.I418V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	387						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CAGACGAGCCATATACACTGC	0.542													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20678	0.0		0.0	False		,,,				2504	0.0					ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1252-1254)Ata>Gta		acyl-CoA dehydrogenase family, member 10							176.0	167.0	170.0					12																	112165863		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112165863A>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1159A>G	12.37:g.112165863A>G	ENSP00000325137:p.Ile387Val					ACAD10_ENST00000549590.1_Missense_Mutation_p.I387V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Missense_Mutation_p.I387V	p.I418V	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			10	1429	+			387					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1252A>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236961	0.39498	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.30981	1.51;1.51;1.51	5.16	2.62	0.31277	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.298701	0.34676	N	0.003762	T	0.21267	0.0512	L	0.35288	1.05	0.80722	D	1	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.19666	0.026;0.008;0.007	T	0.04930	-1.0917	10	0.29301	T	0.29	.	8.8105	0.34965	0.8266:0.0:0.1734:0.0	.	418;387;387	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	V	387;387;418;387;125;125	ENSP00000446959:I387V;ENSP00000389813:I418V;ENSP00000325137:I387V	ENSP00000325137:I387V	I	+	1	0	ACAD10	110650246	0.415000	0.25416	0.997000	0.53966	0.979000	0.70002	0.456000	0.21859	0.725000	0.32318	0.454000	0.30748	ATA		0.542	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		5	167	0	0	0	1	0	5	167				
DPP6	1804	broad.mit.edu	37	7	154684108	154684108	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr7:154684108T>C	ENST00000377770.3	+	26	2657	c.2516T>C	c.(2515-2517)aTc>aCc	p.I839T	DPP6_ENST00000404039.1_Missense_Mutation_p.I775T|DPP6_ENST00000427557.1_Missense_Mutation_p.I732T|DPP6_ENST00000332007.3_Missense_Mutation_p.I777T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	839					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TACCGGTCCATCATCAACTTC	0.512																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(2323-2325)aTc>aCc		dipeptidyl-peptidase 6							124.0	132.0	129.0					7																	154684108		2101	4227	6328	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154684108T>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2516T>C	7.37:g.154684108T>C	ENSP00000367001:p.Ile839Thr					DPP6_ENST00000427557.1_Missense_Mutation_p.I732T|DPP6_ENST00000377770.3_Missense_Mutation_p.I839T|DPP6_ENST00000332007.3_Missense_Mutation_p.I777T	p.I775T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		26	2911	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	839						Missense_Mutation	SNP	ENST00000377770.3	37	c.2324T>C		.	.	.	.	.	.	.	.	.	.	T	12.48	1.950086	0.34377	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.66	4.66	0.58398	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.319873	0.34002	N	0.004354	T	0.66886	0.2835	M	0.74647	2.275	0.41980	D	0.990794	P;P;D;P	0.57257	0.661;0.918;0.979;0.933	B;D;D;D	0.67382	0.41;0.918;0.951;0.951	T	0.72520	-0.4268	10	0.87932	D	0	-9.3896	14.1169	0.65159	0.0:0.0:0.0:1.0	.	732;777;839;775	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	T	775;839;777;732	ENSP00000385578:I775T;ENSP00000367001:I839T;ENSP00000328226:I777T;ENSP00000397303:I732T	ENSP00000328226:I777T	I	+	2	0	DPP6	154315041	1.000000	0.71417	0.774000	0.31636	0.120000	0.20174	7.157000	0.77461	1.745000	0.51790	0.533000	0.62120	ATC		0.512	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		19	27	0	0	0	1	0	19	27				
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										AGTTTGAGAACTGGTGTAAGA	0.488																																						ENST00000607545.1																			0																																																			728411							g.chr5:21497235C>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21497235C>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.488	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		4	8	0	0	0	1	0	4	8				
RUFY1	80230	broad.mit.edu	37	5	178994549	178994549	+	Silent	SNP	T	T	C			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:178994549T>C	ENST00000319449.4	+	4	702	c.690T>C	c.(688-690)aaT>aaC	p.N230N	RUFY1_ENST00000393438.2_Silent_p.N122N|RUFY1_ENST00000437570.2_Silent_p.N122N|RUFY1_ENST00000377001.2_Silent_p.N230N	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	230	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTATAGACAATAAACATCTCT	0.418										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(688-690)aaT>aaC		RUN and FYVE domain containing 1							100.0	100.0	100.0					5																	178994549		2203	4300	6503	SO:0001819	synonymous_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178994549T>C	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.690T>C	5.37:g.178994549T>C		HNSCC(44;0.11)				RUFY1_ENST00000437570.2_Silent_p.N122N|RUFY1_ENST00000393438.2_Silent_p.N122N|RUFY1_ENST00000319449.4_Silent_p.N230N	p.N230N			Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	690	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	230			RUN.		Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	c.690T>C	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	T	5.286	0.238159	0.10023	.	.	ENSG00000176783	ENST00000502984;ENST00000508609	.	.	.	5.43	0.0226	0.14133	.	.	.	.	.	T	0.58395	0.2119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52719	-0.8538	4	.	.	.	-17.6881	10.9952	0.47571	0.0:0.5129:0.0:0.4871	.	.	.	.	T	188;41	.	.	I	+	2	0	RUFY1	178927155	0.955000	0.32602	0.992000	0.48379	0.553000	0.35397	0.030000	0.13688	-0.148000	0.11234	-0.379000	0.06801	ATA		0.418	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		17	21	0	0	0	1	0	17	21				
METTL21A	151194	broad.mit.edu	37	2	208486586	208486586	+	Missense_Mutation	SNP	G	G	C	rs374199210		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr2:208486586G>C	ENST00000411432.1	-	3	419	c.203C>G	c.(202-204)tCt>tGt	p.S68C	METTL21A_ENST00000432416.1_Missense_Mutation_p.S68C|METTL21A_ENST00000425132.1_Missense_Mutation_p.S68C|METTL21A_ENST00000426075.1_Missense_Mutation_p.S68C|METTL21A_ENST00000458426.1_Missense_Mutation_p.S68C|METTL21A_ENST00000272839.3_Missense_Mutation_p.S68C|METTL21A_ENST00000448007.2_Missense_Mutation_p.S68C|METTL21A_ENST00000406927.2_Missense_Mutation_p.S68C|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.S68C	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	68					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTCCACGGCAGAGCGGCCCCT	0.557																																						ENST00000411432.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						c.(202-204)tCt>tGt		methyltransferase like 21A							81.0	78.0	79.0					2																	208486586		2203	4300	6503	SO:0001583	missense	151194					integral to membrane	methyltransferase activity	g.chr2:208486586G>C	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.203C>G	2.37:g.208486586G>C	ENSP00000415115:p.Ser68Cys					METTL21A_ENST00000406927.2_Missense_Mutation_p.S68C|METTL21A_ENST00000432416.1_Missense_Mutation_p.S68C|METTL21A_ENST00000426075.1_Missense_Mutation_p.S68C|METTL21A_ENST00000272839.3_Missense_Mutation_p.S68C|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.S68C|METTL21A_ENST00000458426.1_Missense_Mutation_p.S68C|METTL21A_ENST00000442521.1_Missense_Mutation_p.S68C|METTL21A_ENST00000425132.1_Missense_Mutation_p.S68C	p.S68C	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN			3	419	-			68					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.203C>G	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253294	0.59212	.	.	ENSG00000144401	ENST00000432416;ENST00000458426;ENST00000425132;ENST00000461419;ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;2.21;2.21;2.21;2.21;2.21;2.21	4.08	3.19	0.36642	.	0.508793	0.23086	N	0.052083	T	0.44286	0.1286	L	0.58101	1.795	0.36215	D	0.851623	P;P	0.45126	0.851;0.819	P;B	0.47626	0.552;0.325	T	0.54814	-0.8237	10	0.54805	T	0.06	-3.564	8.8291	0.35074	0.0843:0.1527:0.7631:0.0	.	68;68	Q8WXB1;Q8WXB1-2	MT21A_HUMAN;.	C	68	ENSP00000416570:S68C;ENSP00000389684:S68C;ENSP00000400730:S68C;ENSP00000415115:S68C;ENSP00000407622:S68C;ENSP00000272839:S68C;ENSP00000385481:S68C;ENSP00000403317:S68C;ENSP00000392062:S68C	ENSP00000272839:S68C	S	-	2	0	METTL21A	208194831	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	1.108000	0.31123	1.026000	0.39733	0.455000	0.32223	TCT		0.557	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		31	35	0	0	0	1	0	31	35				
TMEM126B	55863	broad.mit.edu	37	11	85342776	85342776	+	Missense_Mutation	SNP	C	C	G			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:85342776C>G	ENST00000358867.6	+	2	150	c.127C>G	c.(127-129)Cta>Gta	p.L43V	TMEM126B_ENST00000393375.1_Missense_Mutation_p.L13V|TMEM126B_ENST00000534341.1_Missense_Mutation_p.L43V	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	43						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGTCCTTCTCTAGAAGATGC	0.343																																						ENST00000534341.1																			0				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7						c.(127-129)Cta>Gta		transmembrane protein 126B							59.0	56.0	57.0					11																	85342776		2203	4299	6502	SO:0001583	missense	55863					integral to membrane		g.chr11:85342776C>G		CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"""Mitochondrial respiratory chain complex assembly factors"""	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.127C>G	11.37:g.85342776C>G	ENSP00000351737:p.Leu43Val					TMEM126B_ENST00000393375.1_Missense_Mutation_p.L13V|TMEM126B_ENST00000358867.6_Missense_Mutation_p.L43V	p.L43V			Q8IUX1	T126B_HUMAN			2	133	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	43					A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	ENST00000358867.6	37	c.127C>G	CCDS8267.2	.	.	.	.	.	.	.	.	.	.	C	2.802	-0.248928	0.05867	.	.	ENSG00000171204	ENST00000358867;ENST00000534341;ENST00000393375	T;T;T	0.54071	1.19;0.59;1.28	4.89	1.89	0.25635	.	1.056150	0.07358	N	0.883503	T	0.38108	0.1028	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.26087	-1.0113	9	.	.	.	.	4.0656	0.09859	0.1529:0.4657:0.2972:0.0842	.	43;13	Q8IUX1;Q8IUX1-3	T126B_HUMAN;.	V	43;43;13	ENSP00000351737:L43V;ENSP00000433471:L43V;ENSP00000377039:L13V	.	L	+	1	2	TMEM126B	85020424	0.010000	0.17322	0.027000	0.17364	0.091000	0.18340	-0.598000	0.05706	0.326000	0.23384	-0.150000	0.13652	CTA		0.343	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392164.1	NM_018480		6	53	0	0	0	1	0	6	53				
DMBT1	1755	broad.mit.edu	37	10	124402858	124402858	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr10:124402858G>A	ENST00000338354.3	+	53	7292	c.7186G>A	c.(7186-7188)Gtc>Atc	p.V2396I	DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368909.3_Missense_Mutation_p.V2396I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2396					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGACGTCGTCCTGGGTCC	0.647																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7186-7188)Gtc>Atc		deleted in malignant brain tumors 1							62.0	65.0	64.0					10																	124402858		2030	4165	6195	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402858G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7186G>A	10.37:g.124402858G>A	ENSP00000342210:p.Val2396Ile					DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368909.3_Missense_Mutation_p.V2396I	p.V2396I			Q9UGM3	DMBT1_HUMAN			53	7292	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2396					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.7186G>A		.	.	.	.	.	.	.	.	.	.	G	11.70	1.717351	0.30413	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.23950	1.93;1.91;1.88;1.93;1.91;1.88;1.9	5.39	2.56	0.30785	.	0.247806	0.20150	U	0.098180	T	0.14874	0.0359	L	0.27053	0.805	0.09310	N	1	P;P;B;B;B;B;B	0.37061	0.58;0.58;0.374;0.374;0.374;0.374;0.257	B;B;B;B;B;B;B	0.29942	0.109;0.066;0.066;0.066;0.066;0.066;0.03	T	0.08932	-1.0698	10	0.34782	T	0.22	.	10.54	0.45026	0.2657:0.0:0.7343:0.0	.	1116;2376;1645;2525;1768;2386;2396	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	I	2396;2525;2396;2396;2396;2395;1768;2386;1768;1768;2396;2386;1768;542;1116	ENSP00000342210:V2396I;ENSP00000343175:V2386I;ENSP00000327747:V1768I;ENSP00000357905:V2396I;ENSP00000357951:V2386I;ENSP00000357952:V1768I;ENSP00000352593:V1116I	ENSP00000331522:V1768I	V	+	1	0	DMBT1	124392848	0.102000	0.21896	0.125000	0.21846	0.946000	0.59487	0.380000	0.20602	0.277000	0.22141	0.655000	0.94253	GTC		0.647	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		19	18	0	0	0	1	0	19	18				
USP28	57646	broad.mit.edu	37	11	113699965	113699965	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:113699965T>C	ENST00000003302.4	-	10	1081	c.1013A>G	c.(1012-1014)gAt>gGt	p.D338G	USP28_ENST00000542033.1_5'Flank|USP28_ENST00000537706.1_Missense_Mutation_p.D338G|USP28_ENST00000545540.1_Missense_Mutation_p.D213G|USP28_ENST00000260188.5_Missense_Mutation_p.D338G|USP28_ENST00000544967.1_Missense_Mutation_p.D46G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	338	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAGCTCAACATCACCCTCCAC	0.478																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1012-1014)gAt>gGt		ubiquitin specific peptidase 28							206.0	161.0	176.0					11																	113699965		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113699965T>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1013A>G	11.37:g.113699965T>C	ENSP00000003302:p.Asp338Gly					USP28_ENST00000537706.1_Missense_Mutation_p.D338G|USP28_ENST00000545540.1_Missense_Mutation_p.D213G|USP28_ENST00000544967.1_Missense_Mutation_p.D46G|USP28_ENST00000260188.5_Missense_Mutation_p.D338G	p.D338G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	10	1081	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	338					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1013A>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484177	0.84854	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.73897	1.31;1.32;0.63;1.31;0.59;-0.79	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.047799	0.85682	D	0.000000	T	0.78610	0.4310	M	0.69823	2.125	0.51482	D	0.99992	P;B;B;P	0.42161	0.772;0.263;0.254;0.554	P;B;B;B	0.45577	0.486;0.369;0.375;0.389	T	0.81669	-0.0828	10	0.72032	D	0.01	-17.7618	15.3591	0.74457	0.0:0.0:0.0:1.0	.	213;338;338;46	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	G	338;338;46;213;102;338;237	ENSP00000003302:D338G;ENSP00000260188:D338G;ENSP00000442431:D46G;ENSP00000444991:D213G;ENSP00000442257:D102G;ENSP00000445743:D338G	ENSP00000003302:D338G	D	-	2	0	USP28	113205175	1.000000	0.71417	0.991000	0.47740	0.881000	0.50899	7.673000	0.83973	2.020000	0.59435	0.379000	0.24179	GAT		0.478	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			29	21	0	0	0	1	0	29	21				
AC073321.4	0	broad.mit.edu	37	2	217475032	217475032	+	lincRNA	DEL	A	A	-	rs71401156	byFrequency	TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr2:217475032delA	ENST00000441803.1	+	0	195																											ATTTTATTTCAAAAAAAAAAA	0.373													|||unknown(HR)	2148	0.428914	0.2731	0.4049	5008	,	,		14255	0.5149		0.4722	False		,,,				2504	0.5235					ENST00000441803.1																			0																																																			0							g.chr2:217475032delA																													2.37:g.217475032delA														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.373	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	4						3	4	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140574170	140574175	+	In_Frame_Del	DEL	AGGCCG	AGGCCG	-	rs58244182|rs140613424|rs140393827	byFrequency	TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:140574170_140574175delAGGCCG	ENST00000239446.4	+	1	2229_2234	c.2045_2050delAGGCCG	c.(2044-2052)caggccgag>cag	p.AE683del		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	683					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCAGGCCCAGGCCGAGGCCGACTT	0.704														2124	0.424121	0.4372	0.4971	5008	,	,		11585	0.5347		0.3658	False		,,,				2504	0.3006					ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2044-2052)cag>c						851,2755		246,359,1198						2.2	0.0		dbSNP_129	38	1442,5672		362,718,2477	no	coding	PCDHB10	NM_018930.3		608,1077,3675	A1A1,A1R,RR		20.2699,23.5996,21.3899				2293,8427				SO:0001651	inframe_deletion	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574170_140574175delAGGCCG	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2045_2050delAGGCCG	5.37:g.140574176_140574181delAGGCCG	ENSP00000239446:p.Ala683_Glu684del						p.QAE682del	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2229_2234	+			682					Q96T99	In_Frame_Del	DEL	ENST00000239446.4	37	c.2045_2050delAGGCCG	CCDS4252.1																																																																																				0.704	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		12	87						12	87	---	---	---	---
CTC-338M12.4	101928649	broad.mit.edu	37	5	180699086	180699087	+	RNA	INS	-	-	A	rs11377959|rs199570993|rs55791940		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:180699086_180699087insA	ENST00000511331.1	+	0	918_919				TRIM52-AS1_ENST00000507434.1_RNA																							CTTTCCATCAGAAAAAAAAAAA	0.406																																						ENST00000511331.1																			0																																																			101928649							g.chr5:180699086_180699087insA																													5.37:g.180699097_180699097dupA						CTC-338M12.3_ENST00000507434.1_RNA								0	918_919	+									RNA	INS	ENST00000511331.1	37																																																																																						0.406	CTC-338M12.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000371318.1			2	4						2	4	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	-	GAACCC	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr17:56833457_56833458insGAACCC	ENST00000308249.2	+	1	228_229	c.99_100insGAACCC	c.(100-102)gaa>GAACCCgaa	p.34_34E>EPE		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673														1948	0.388978	0.4493	0.2896	5008	,	,		9152	0.3323		0.4036	False		,,,				2504	0.4213					ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(97-102)ccaacc>ccGAACCCaacc		protein phosphatase, Mg2+/Mn2+ dependent, 1E																																				SO:0001652	inframe_insertion	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833457_56833458insGAACCC	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.124_129dupGAACCC	17.37:g.56833458_56833463dupGAACCC	ENSP00000312411:p.ProGlu44dup						p.32_33insPN	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	228_229	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		32			11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	In_Frame_Ins	INS	ENST00000308249.2	37	c.99_100insGAACCC	CCDS11613.1																																																																																				0.673	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		3	6						3	6	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77807917	77807918	+	In_Frame_Ins	INS	-	-	GCCGCC			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr17:77807917_77807918insGCCGCC	ENST00000269397.4	-	5	1700_1701	c.1523_1524insGGCGGC	c.(1522-1524)gca>gcGGCGGCa	p.508_508A>AAA		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	508	Interaction with BMI1.|Poly-Ala.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGTgccgctgccgccgccac	0.683																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1522-1524)ggc>gGGCGGCgc		chromobox homolog 4				245,2867		49,147,1360						-4.3	0.0			21	468,6186		62,344,2921	no	coding	CBX4	NM_003655.2		111,491,4281	A1A1,A1R,RR		7.0334,7.8728,7.3008				713,9053				SO:0001652	inframe_insertion	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77807917_77807918insGCCGCC	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1518_1523dupGGCGGC	17.37:g.77807918_77807923dupGCCGCC	ENSP00000269397:p.AlaAla510dup						p.508_509insRR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1700_1701	-			508			Interaction with BMI1.|Poly-Ala.		B1PJR7|Q6TPI8|Q96C04	In_Frame_Ins	INS	ENST00000269397.4	37	c.1523_1524insGGCGGC	CCDS32758.1																																																																																				0.683	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		13	37						13	37	---	---	---	---
