#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
LOC440040	440040	broad.mit.edu	37	11	49831624	49831624	+	RNA	SNP	T	T	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:49831624T>C	ENST00000527477.1	+	0	1849																											ACCTCCCCAGTTACACTGCAG	0.443																																						ENST00000527477.1																			0																																																			0							g.chr11:49831624T>C																													11.37:g.49831624T>C														0	1849	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.443	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			54	65	0	0	0	1	0	54	65				
SLC13A1	6561	broad.mit.edu	37	7	122821049	122821049	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:122821049A>T	ENST00000194130.2	-	2	245	c.206T>A	c.(205-207)tTt>tAt	p.F69Y	SLC13A1_ENST00000539873.1_Missense_Mutation_p.F5Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CATGATCCCAAACATGGGTAA	0.398																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(205-207)tTt>tAt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						117.0	103.0	108.0					7																	122821049		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122821049A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.206T>A	7.37:g.122821049A>T	ENSP00000194130:p.Phe69Tyr					SLC13A1_ENST00000539873.1_Missense_Mutation_p.F5Y	p.F69Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			2	245	-			69					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.206T>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267741	0.59540	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.26957	4.15;1.7	6.16	5.0	0.66597	.	0.091920	0.85682	N	0.000000	T	0.38427	0.1040	M	0.87900	2.915	0.48696	D	0.999694	B	0.31241	0.315	B	0.35312	0.2	T	0.29150	-1.0021	10	0.54805	T	0.06	.	12.1431	0.54008	0.8717:0.0:0.0:0.1283	.	69	Q9BZW2	S13A1_HUMAN	Y	69;5	ENSP00000194130:F69Y;ENSP00000441309:F5Y	ENSP00000194130:F69Y	F	-	2	0	SLC13A1	122608285	1.000000	0.71417	0.925000	0.36789	0.795000	0.44927	6.893000	0.75649	1.117000	0.41842	0.528000	0.53228	TTT		0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		33	32	0	0	0	1	0	33	32				
SPHK2	56848	broad.mit.edu	37	19	49132445	49132445	+	Silent	SNP	T	T	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49132445T>C	ENST00000245222.4	+	7	1746	c.1380T>C	c.(1378-1380)gcT>gcC	p.A460A	SPHK2_ENST00000599029.1_Silent_p.A424A|SPHK2_ENST00000340932.3_Silent_p.A422A|SPHK2_ENST00000600537.1_Silent_p.A401A|SPHK2_ENST00000599748.1_Silent_p.A424A|SPHK2_ENST00000443164.1_Silent_p.A522A|SPHK2_ENST00000598088.1_Silent_p.A460A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	460					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGTGGGGCTGGGGATGCTC	0.687																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1564-1566)gcT>gcC		sphingosine kinase 2							41.0	51.0	48.0					19																	49132445		2200	4299	6499	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132445T>C	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1380T>C	19.37:g.49132445T>C						SPHK2_ENST00000599029.1_Silent_p.A424A|SPHK2_ENST00000598088.1_Silent_p.A460A|SPHK2_ENST00000600537.1_Silent_p.A401A|SPHK2_ENST00000599748.1_Silent_p.A424A|SPHK2_ENST00000340932.3_Silent_p.A422A|SPHK2_ENST00000245222.4_Silent_p.A460A	p.A522A			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	2271	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	460					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1566T>C	CCDS12727.1																																																																																				0.687	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			88	123	0	0	0	1	0	88	123				
TRPM4	54795	broad.mit.edu	37	19	49693561	49693561	+	Missense_Mutation	SNP	C	C	T	rs199552085		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49693561C>T	ENST00000252826.5	+	15	2242	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	TRPM4_ENST00000355712.5_Missense_Mutation_p.R352C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R706C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	706					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CATCTACACCCGCCTCATCAC	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17395	0.0		0.0	False		,,,				2504	0.0					ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2116-2118)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 4							195.0	171.0	179.0					19																	49693561		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49693561C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2116C>T	19.37:g.49693561C>T	ENSP00000252826:p.Arg706Cys					TRPM4_ENST00000355712.5_Missense_Mutation_p.R352C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R706C	p.R706C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	15	2242	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	706					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2116C>T	CCDS33073.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.77	2.336673	0.41398	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.71817	-0.6;-0.6;-0.6	4.99	-4.94	0.03057	.	0.946651	0.08919	N	0.874738	T	0.54013	0.1832	N	0.24115	0.695	0.26849	N	0.968209	D;D;D;D	0.55172	0.97;0.969;0.969;0.958	B;P;B;B	0.44732	0.27;0.459;0.34;0.431	T	0.55679	-0.8103	10	0.72032	D	0.01	-10.0993	7.8817	0.29627	0.3287:0.2364:0.4349:0.0	.	352;532;706;706	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	706;706;352	ENSP00000252826:R706C;ENSP00000407492:R706C;ENSP00000347944:R352C	ENSP00000252826:R706C	R	+	1	0	TRPM4	54385373	0.048000	0.20356	0.854000	0.33618	0.219000	0.24729	0.051000	0.14141	-0.914000	0.03827	-0.812000	0.03155	CGC		0.597	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		9	212	0	0	0	1	0	9	212				
ZNF337	26152	broad.mit.edu	37	20	25656710	25656710	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr20:25656710A>G	ENST00000376436.1	-	4	1753	c.1214T>C	c.(1213-1215)gTg>gCg	p.V405A	RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Missense_Mutation_p.V373A|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V405A|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCCTTGCACACAAAAGGCTT	0.488																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1213-1215)gTg>gCg		zinc finger protein 337							119.0	104.0	109.0					20																	25656710		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656710A>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1214T>C	20.37:g.25656710A>G	ENSP00000365619:p.Val405Ala					ZNF337_ENST00000538750.1_Missense_Mutation_p.V373A|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V405A	p.V405A							4	1753	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1214T>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.647161	0.47258	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.11	-0.201	0.13212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.25380	0.74	0.09310	N	1	B;B	0.28026	0.198;0.198	B;B	0.22152	0.027;0.038	T	0.30238	-0.9985	9	0.38643	T	0.18	.	4.3723	0.11253	0.7055:0.0:0.0:0.2945	.	373;405	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	405;405;405;373	ENSP00000365619:V405A;ENSP00000252979:V405A;ENSP00000442181:V373A	ENSP00000252979:V405A	V	-	2	0	ZNF337	25604710	0.000000	0.05858	0.005000	0.12908	0.922000	0.55478	-2.761000	0.00786	-0.093000	0.12396	0.254000	0.18369	GTG		0.488	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			48	70	0	0	0	1	0	48	70				
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		17	33	0	0	0	1	0	17	33				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	72	0	0	0	1	0	4	72				
DLEC1	9940	broad.mit.edu	37	3	38087109	38087109	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:38087109G>C	ENST00000308059.6	+	2	508	c.487G>C	c.(487-489)Gct>Cct	p.A163P	DLEC1_ENST00000346219.3_Missense_Mutation_p.A163P|DLEC1_ENST00000452631.2_Missense_Mutation_p.A163P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAAGCACGGGCTATTGCGGA	0.532																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(487-489)Gct>Cct		deleted in lung and esophageal cancer 1							71.0	72.0	71.0					3																	38087109		1926	4133	6059	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38087109G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.487G>C	3.37:g.38087109G>C	ENSP00000308597:p.Ala163Pro					DLEC1_ENST00000452631.2_Missense_Mutation_p.A163P|DLEC1_ENST00000346219.3_Missense_Mutation_p.A163P	p.A163P			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	2	508	+			163						Missense_Mutation	SNP	ENST00000308059.6	37	c.487G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331361	0.41297	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.10573	2.89;2.86;3.12	4.8	2.96	0.34315	.	0.406939	0.26788	N	0.022495	T	0.25494	0.0620	M	0.71036	2.16	0.32744	N	0.507318	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.988	T	0.24012	-1.0172	10	0.52906	T	0.07	-12.1907	5.3328	0.15942	0.1027:0.0:0.6958:0.2015	.	163;163;163	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	P	163	ENSP00000308597:A163P;ENSP00000315914:A163P;ENSP00000410427:A163P	ENSP00000308597:A163P	A	+	1	0	DLEC1	38062113	0.994000	0.37717	0.568000	0.28447	0.021000	0.10359	1.122000	0.31295	0.592000	0.29728	0.655000	0.94253	GCT		0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		53	52	0	0	0	1	0	53	52				
GLTSCR1L	23506	broad.mit.edu	37	6	42830261	42830261	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr6:42830261C>G	ENST00000314073.5	+	12	2539	c.2363C>G	c.(2362-2364)tCt>tGt	p.S788C	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S788C			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	788																	ATCAATCCCTCTGCTGAGATG	0.403																																						ENST00000314073.5																			0											c.(2362-2364)tCt>tGt		GLTSCR1-like							168.0	167.0	167.0					6																	42830261		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42830261C>G	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2363C>G	6.37:g.42830261C>G	ENSP00000313933:p.Ser788Cys					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S788C	p.S788C							12	2539	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2363C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126115	0.77549	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.64260	-0.09;-0.09	5.27	5.27	0.74061	.	0.182364	0.39615	N	0.001302	T	0.73590	0.3606	M	0.73962	2.25	0.48571	D	0.999677	P	0.51933	0.949	P	0.59948	0.866	T	0.77242	-0.2660	10	0.87932	D	0	-5.4751	18.96	0.92674	0.0:1.0:0.0:0.0	.	788	Q6AI39	K0240_HUMAN	C	788	ENSP00000313933:S788C;ENSP00000377723:S788C	ENSP00000313933:S788C	S	+	2	0	KIAA0240	42938239	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.011000	0.76359	2.456000	0.83038	0.449000	0.29647	TCT		0.403	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		12	257	0	0	0	1	0	12	257				
PCSK1	5122	broad.mit.edu	37	5	95728775	95728775	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:95728775G>A	ENST00000311106.3	-	14	2429	c.2192C>T	c.(2191-2193)aCt>aTt	p.T731I	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.T684I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	731					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTAAGGTTTAGTGTTATAAAA	0.398																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2191-2193)aCt>aTt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						148.0	153.0	151.0					5																	95728775		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728775G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2192C>T	5.37:g.95728775G>A	ENSP00000308024:p.Thr731Ile					PCSK1_ENST00000508626.1_Missense_Mutation_p.T684I|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	p.T731I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2429	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	731					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.2192C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833999	0.50951	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.67171	-0.09;-0.25	6.03	5.14	0.70334	Prohormone convertase enzyme (1);	0.157985	0.64402	D	0.000016	T	0.58264	0.2110	L	0.29908	0.895	0.33613	D	0.603839	B;B	0.10296	0.003;0.0	B;B	0.12837	0.008;0.005	T	0.65005	-0.6273	10	0.72032	D	0.01	-9.368	16.8498	0.85991	0.0:0.1286:0.8714:0.0	.	684;731	E9PHA1;P29120	.;NEC1_HUMAN	I	731;684	ENSP00000308024:T731I;ENSP00000421600:T684I	ENSP00000308024:T731I	T	-	2	0	PCSK1	95754531	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	3.123000	0.50453	1.518000	0.48934	0.655000	0.94253	ACT		0.398	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		25	292	0	0	0	1	0	25	292				
RYR1	6261	broad.mit.edu	37	19	38976630	38976630	+	Missense_Mutation	SNP	C	C	G	rs377041724		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:38976630C>G	ENST00000359596.3	+	34	5335	c.5335C>G	c.(5335-5337)Ccc>Gcc	p.P1779A	RYR1_ENST00000360985.3_Missense_Mutation_p.P1779A|RYR1_ENST00000355481.4_Missense_Mutation_p.P1779A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1779	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCATTTCTCGCCCCCCTGTTT	0.682																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5335-5337)Ccc>Gcc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						33.0	33.0	33.0					19																	38976630		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976630C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5335C>G	19.37:g.38976630C>G	ENSP00000352608:p.Pro1779Ala					RYR1_ENST00000359596.3_Missense_Mutation_p.P1779A|RYR1_ENST00000360985.3_Missense_Mutation_p.P1779A	p.P1779A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5466	+	all_cancers(60;7.91e-06)		1779			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5335C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	2.057	-0.416317	0.04766	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72051	-0.62;-0.62;-0.62	3.62	-1.2	0.09554	.	0.274240	0.28772	U	0.014186	T	0.53578	0.1805	L	0.54323	1.7	0.09310	N	1	P;B	0.37548	0.599;0.157	B;B	0.36030	0.216;0.053	T	0.50432	-0.8829	10	0.12103	T	0.63	.	4.3825	0.11300	0.1037:0.4142:0.329:0.153	.	1779;1779	P21817-2;P21817	.;RYR1_HUMAN	A	1779	ENSP00000352608:P1779A;ENSP00000347667:P1779A;ENSP00000354254:P1779A	ENSP00000347667:P1779A	P	+	1	0	RYR1	43668470	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	-0.616000	0.05591	-0.717000	0.04955	-2.574000	0.00170	CCC		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			54	71	0	0	0	1	0	54	71				
INTS10	55174	broad.mit.edu	37	8	19677984	19677984	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:19677984G>T	ENST00000397977.3	+	4	794	c.396G>T	c.(394-396)ttG>ttT	p.L132F	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	132	Poly-Leu.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGAAATGTTGCTTCTACTTT	0.423																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(394-396)ttG>ttT		integrator complex subunit 10							131.0	124.0	126.0					8																	19677984		1919	4125	6044	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19677984G>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.396G>T	8.37:g.19677984G>T	ENSP00000381064:p.Leu132Phe					INTS10_ENST00000521758.1_Intron	p.L132F	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	4	794	+			132			Poly-Leu.		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.396G>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268806	0.80469	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.86	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	L	0.55481	1.735	0.50467	D	0.999874	D	0.76494	0.999	D	0.83275	0.996	T	0.67421	-0.5675	9	0.66056	D	0.02	-17.9758	9.2686	0.37657	0.1559:0.1261:0.718:0.0	.	132	Q9NVR2	INT10_HUMAN	F	132	.	ENSP00000381064:L132F	L	+	3	2	INTS10	19722264	1.000000	0.71417	0.871000	0.34182	0.929000	0.56500	1.257000	0.32932	0.794000	0.33899	0.655000	0.94253	TTG		0.423	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		39	78	1	0	3.66854e-30	1	4.02129e-30	39	78				
RTTN	25914	broad.mit.edu	37	18	67673627	67673627	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr18:67673627T>C	ENST00000255674.6	-	47	6801	c.6515A>G	c.(6514-6516)aAt>aGt	p.N2172S	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2172					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTCTGATAATTGTAAATCAG	0.398																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(6514-6516)aAt>aGt		rotatin							72.0	67.0	69.0					18																	67673627		1813	4081	5894	SO:0001583	missense	25914						binding	g.chr18:67673627T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6515A>G	18.37:g.67673627T>C	ENSP00000255674:p.Asn2172Ser					RTTN_ENST00000454359.1_3'UTR	p.N2172S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			47	6801	-		Esophageal squamous(42;0.129)	2172					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6515A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624700	0.66901	.	.	ENSG00000176225	ENST00000255674	T	0.49139	0.79	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.131349	0.48767	D	0.000180	T	0.59074	0.2167	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61676	-0.7014	10	0.72032	D	0.01	.	9.4125	0.38500	0.0:0.0812:0.0:0.9188	.	2172	Q86VV8	RTTN_HUMAN	S	2172	ENSP00000255674:N2172S	ENSP00000255674:N2172S	N	-	2	0	RTTN	65824607	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	3.167000	0.50793	2.053000	0.61076	0.477000	0.44152	AAT		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		48	48	0	0	0	1	0	48	48				
NUTM1	256646	broad.mit.edu	37	15	34649404	34649404	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:34649404C>T	ENST00000333756.4	+	7	3266	c.3111C>T	c.(3109-3111)ctC>ctT	p.L1037L	NUTM1_ENST00000438749.3_Silent_p.L1055L|NUTM1_ENST00000537011.1_Silent_p.L1065L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1037						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCATCCCCTCAGTCCTCACC	0.532																																						ENST00000537011.1																			0											c.(3193-3195)ctC>ctT		NUT midline carcinoma, family member 1							81.0	68.0	72.0					15																	34649404		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34649404C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3111C>T	15.37:g.34649404C>T						NUTM1_ENST00000333756.4_Silent_p.L1037L|NUTM1_ENST00000438749.3_Silent_p.L1055L	p.L1065L							8	3577	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3195C>T	CCDS32190.1																																																																																				0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		48	64	0	0	0	1	0	48	64				
KMT2A	4297	broad.mit.edu	37	11	118377160	118377160	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:118377160C>T	ENST00000389506.5	+	27	10544	c.10544C>T	c.(10543-10545)tCt>tTt	p.S3515F	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3518F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477F			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3515					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CCTGGGGGTTCTCCATCCTCT	0.547																																						ENST00000534358.1																			0											c.(10552-10554)tCt>tTt		lysine (K)-specific methyltransferase 2A							71.0	71.0	71.0					11																	118377160		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118377160C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10544C>T	11.37:g.118377160C>T	ENSP00000374157:p.Ser3515Phe					KMT2A_ENST00000389506.5_Missense_Mutation_p.S3515F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477F	p.S3518F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10576	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10553C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	0.579	-0.837958	0.02692	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82433	-1.61;-1.61;-1.58	0.235	0.235	0.15431	.	0.474839	0.15013	U	0.285468	T	0.76314	0.3970	L	0.36672	1.1	0.21105	N	0.999783	P;P	0.39520	0.676;0.676	P;P	0.45558	0.485;0.485	T	0.65245	-0.6215	9	0.39692	T	0.17	.	.	.	.	.	3518;3515	E9PQG7;Q03164	.;MLL1_HUMAN	F	3518;3515;3477;2425	ENSP00000436786:S3518F;ENSP00000374157:S3515F;ENSP00000346516:S3477F	ENSP00000346516:S3477F	S	+	2	0	MLL	117882370	0.914000	0.31030	0.995000	0.50966	0.748000	0.42578	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	TCT		0.547	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		59	78	0	0	0	1	0	59	78				
GAS2L3	283431	broad.mit.edu	37	12	101017896	101017896	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:101017896C>T	ENST00000539410.1	+	9	1699	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	GAS2L3_ENST00000547754.1_Missense_Mutation_p.S438F|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S438F|GAS2L3_ENST00000537247.1_Missense_Mutation_p.S334F			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	438					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTATTTCATCCCCCAATACC	0.433																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1000-1002)tCc>tTc		growth arrest-specific 2 like 3							91.0	93.0	93.0					12																	101017896		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017896C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1313C>T	12.37:g.101017896C>T	ENSP00000439672:p.Ser438Phe					GAS2L3_ENST00000547754.1_Missense_Mutation_p.S438F|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S438F|GAS2L3_ENST00000539410.1_Missense_Mutation_p.S438F	p.S334F			Q86XJ1	GA2L3_HUMAN			10	1955	+			438					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1001C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618162	0.46736	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26223	1.77;1.77;1.75;1.77	5.84	4.73	0.59995	.	0.273190	0.30177	N	0.010225	T	0.22282	0.0537	L	0.39633	1.23	0.20403	N	0.999905	B	0.20887	0.049	B	0.19666	0.026	T	0.13308	-1.0514	10	0.37606	T	0.19	-6.4392	12.2631	0.54661	0.0:0.8971:0.0:0.1029	.	438	Q86XJ1	GA2L3_HUMAN	F	438;438;334;438	ENSP00000266754:S438F;ENSP00000448955:S438F;ENSP00000442406:S334F;ENSP00000439672:S438F	ENSP00000266754:S438F	S	+	2	0	GAS2L3	99542027	0.111000	0.22076	0.025000	0.17156	0.450000	0.32258	2.701000	0.47094	1.128000	0.42052	0.650000	0.86243	TCC		0.433	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		9	207	0	0	0	1	0	9	207				
SNHG14	104472715	broad.mit.edu	37	15	25475840	25475840	+	RNA	SNP	G	G	A	rs527258471		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:25475840G>A	ENST00000453082.2	+	0	1435				SNORD115-33_ENST00000363723.1_RNA|SNORD115-32_ENST00000364079.1_RNA|SNORD115-34_ENST00000362441.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTCGGCCTCGCTTTTCCTGG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16940	0.001		0.0	False		,,,				2504	0.0					ENST00000453082.2																			0																																																			0							g.chr15:25475840G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25475840G>A								NR_003343.1						0	1435	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.607	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			15	80	0	0	0	1	0	15	80				
EVC	2121	broad.mit.edu	37	4	5755545	5755545	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:5755545C>A	ENST00000264956.6	+	10	1533	c.1349C>A	c.(1348-1350)gCg>gAg	p.A450E	EVC_ENST00000382674.2_Missense_Mutation_p.A450E|EVC_ENST00000509451.1_Missense_Mutation_p.A450E	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	450					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGGTCACGGCGTCTCTGGCT	0.582																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1348-1350)gCg>gAg		Ellis van Creveld syndrome							104.0	102.0	102.0					4																	5755545		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755545C>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1349C>A	4.37:g.5755545C>A	ENSP00000264956:p.Ala450Glu					EVC_ENST00000264956.6_Missense_Mutation_p.A450E|EVC_ENST00000509451.1_Missense_Mutation_p.A450E	p.A450E			P57679	EVC_HUMAN			10	1533	+		Myeloproliferative disorder(84;0.117)	450						Missense_Mutation	SNP	ENST00000264956.6	37	c.1349C>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	1.736	-0.492957	0.04322	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.48836	0.8;0.8;0.87	5.04	1.06	0.20224	.	0.507102	0.19949	N	0.102479	T	0.31918	0.0812	L	0.60455	1.87	0.19575	N	0.999962	B	0.23735	0.09	B	0.21151	0.033	T	0.32534	-0.9903	10	0.02654	T	1	.	4.4668	0.11692	0.4162:0.4124:0.0:0.1715	.	450	P57679	EVC_HUMAN	E	450	ENSP00000264956:A450E;ENSP00000372120:A450E;ENSP00000426774:A450E	ENSP00000264956:A450E	A	+	2	0	EVC	5806446	0.030000	0.19436	0.004000	0.12327	0.327000	0.28475	0.658000	0.24979	0.159000	0.19401	-1.157000	0.01802	GCG		0.582	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			68	87	1	0	1.53134e-21	1	1.64691e-21	68	87				
POGLUT1	56983	broad.mit.edu	37	3	119210390	119210390	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:119210390A>G	ENST00000295588.4	+	10	1075	c.991A>G	c.(991-993)Aat>Gat	p.N331D		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	331					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGTAAAAGCAAATGATGATGT	0.348																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(991-993)Aat>Gat		protein O-glucosyltransferase 1							187.0	177.0	181.0					3																	119210390		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119210390A>G	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.991A>G	3.37:g.119210390A>G	ENSP00000295588:p.Asn331Asp						p.N331D	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			10	1075	+			331					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.991A>G	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586141	0.86851	.	.	ENSG00000163389	ENST00000295588	T	0.24538	1.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.82716	2.605	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	T	0.53767	-0.8392	10	0.42905	T	0.14	-27.2785	11.909	0.52729	1.0:0.0:0.0:0.0	.	331	Q8NBL1	PGLT1_HUMAN	D	331	ENSP00000295588:N331D	ENSP00000295588:N331D	N	+	1	0	POGLUT1	120693080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.304000	0.77564	0.528000	0.53228	AAT		0.348	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		11	22	0	0	0	1	0	11	22				
MUC6	4588	broad.mit.edu	37	11	1029335	1029335	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:1029335C>G	ENST00000421673.2	-	10	1218	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	390					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGGCCGCTCCGTGCACACC	0.687																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1168-1170)Gag>Cag		mucin 6, oligomeric mucus/gel-forming							13.0	15.0	14.0					11																	1029335		2050	4166	6216	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1029335C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1168G>C	11.37:g.1029335C>G	ENSP00000406861:p.Glu390Gln						p.E390Q	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1218	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	390					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1168G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030251	0.35797	.	.	ENSG00000184956	ENST00000421673	T	0.65178	-0.14	4.56	2.58	0.30949	von Willebrand factor, type D domain (1);	0.000000	0.31177	U	0.008110	T	0.45276	0.1334	L	0.37697	1.125	0.09310	N	1	B	0.31485	0.325	B	0.28385	0.089	T	0.30937	-0.9961	10	0.41790	T	0.15	.	5.9115	0.19031	0.0:0.6682:0.1582:0.1735	.	390	Q6W4X9	MUC6_HUMAN	Q	390	ENSP00000406861:E390Q	ENSP00000406861:E390Q	E	-	1	0	MUC6	1019335	0.979000	0.34478	0.006000	0.13384	0.034000	0.12701	3.909000	0.56363	0.426000	0.26116	0.313000	0.20887	GAG		0.687	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		9	21	0	0	0	1	0	9	21				
PDHX	8050	broad.mit.edu	37	11	34938261	34938261	+	Missense_Mutation	SNP	T	T	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:34938261T>G	ENST00000227868.4	+	1	143	c.59T>G	c.(58-60)tTc>tGc	p.F20C	APIP_ENST00000527830.1_5'Flank|PDHX_ENST00000448838.3_Intron|APIP_ENST00000395787.3_5'Flank|PDHX_ENST00000430469.2_Missense_Mutation_p.F20C|APIP_ENST00000278359.5_5'Flank			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	20					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTTGTGGGCTTCCCCGGCCGC	0.642																																						ENST00000227868.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16						c.(58-60)tTc>tGc		pyruvate dehydrogenase complex, component X							33.0	38.0	36.0					11																	34938261		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34938261T>G	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.59T>G	11.37:g.34938261T>G	ENSP00000227868:p.Phe20Cys					PDHX_ENST00000430469.2_Missense_Mutation_p.F20C|PDHX_ENST00000448838.3_Intron	p.F20C			O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		1	143	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	20					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.59T>G	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983793	0.53827	.	.	ENSG00000110435	ENST00000227868;ENST00000430469;ENST00000533262	T;T;T	0.38722	1.94;1.12;1.82	5.26	2.91	0.33838	.	0.398394	0.25503	N	0.030234	T	0.27454	0.0674	.	.	.	0.09310	N	1	P;P	0.51653	0.876;0.947	B;B	0.40101	0.319;0.319	T	0.12811	-1.0533	9	0.41790	T	0.15	-1.8589	5.7665	0.18229	0.0:0.2142:0.0:0.7858	.	20;20	E9PBP7;O00330	.;ODPX_HUMAN	C	20	ENSP00000227868:F20C;ENSP00000415695:F20C;ENSP00000432277:F20C	ENSP00000227868:F20C	F	+	2	0	PDHX	34894837	0.772000	0.28567	0.002000	0.10522	0.008000	0.06430	1.217000	0.32455	1.012000	0.39366	0.459000	0.35465	TTC		0.642	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		22	31	0	0	0	1	0	22	31				
RAB40A	142684	broad.mit.edu	37	X	102754896	102754896	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chrX:102754896C>T	ENST00000372633.1	-	1	2907	c.789G>A	c.(787-789)caG>caA	p.Q263Q	RAB40A_ENST00000304236.1_Silent_p.Q263Q|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	263					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TGGGTGGGCTCTGGGGTGGGC	0.527																																						ENST00000372633.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(787-789)caG>caA		RAB40A, member RAS oncogene family							84.0	79.0	80.0					X																	102754896		2203	4300	6503	SO:0001819	synonymous_variant	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102754896C>T	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.789G>A	X.37:g.102754896C>T						RAB40A_ENST00000304236.1_Silent_p.Q263Q|LL0XNC01-250H12.3_ENST00000445990.1_RNA	p.Q263Q			Q8WXH6	RB40A_HUMAN			1	2907	-			263					O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	ENST00000372633.1	37	c.789G>A	CCDS35357.1																																																																																				0.527	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			7	227	0	0	0	1	0	7	227				
DNMT1	1786	broad.mit.edu	37	19	10262175	10262175	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:10262175C>T	ENST00000340748.4	-	23	2351	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	DNMT1_ENST00000359526.4_Missense_Mutation_p.D722N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D706N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	706	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	ATGTTATCATCGACTTCCTCA	0.488																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2116-2118)Gat>Aat		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						249.0	208.0	222.0					19																	10262175		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262175C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2116G>A	19.37:g.10262175C>T	ENSP00000345739:p.Asp706Asn					DNMT1_ENST00000359526.4_Missense_Mutation_p.D722N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D706N	p.D706N			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2351	-			706					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2116G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228213	0.79576	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.27402	1.81;1.67;1.67	5.75	5.75	0.90469	.	0.151185	0.64402	D	0.000018	T	0.39410	0.1077	L	0.59436	1.845	0.80722	D	1	P;P;P	0.48230	0.907;0.703;0.85	P;B;B	0.46299	0.511;0.202;0.313	T	0.05632	-1.0873	10	0.31617	T	0.26	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	706;722;706	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	722;706;706;574	ENSP00000352516:D722N;ENSP00000440457:D706N;ENSP00000345739:D706N	ENSP00000345739:D706N	D	-	1	0	DNMT1	10123175	1.000000	0.71417	0.386000	0.26170	0.987000	0.75469	7.568000	0.82369	2.713000	0.92767	0.655000	0.94253	GAT		0.488	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		27	248	0	0	0	1	0	27	248				
ZFP42	132625	broad.mit.edu	37	4	188924786	188924786	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:188924786C>T	ENST00000326866.4	+	4	1233	c.825C>T	c.(823-825)ttC>ttT	p.F275F	ZFP42_ENST00000509524.1_Silent_p.F275F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	275					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAAACGTTTCGTGTGTCCCT	0.488																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(823-825)ttC>ttT		ZFP42 zinc finger protein							72.0	69.0	70.0					4																	188924786		2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924786C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.825C>T	4.37:g.188924786C>T						ZFP42_ENST00000509524.1_Silent_p.F275F	p.F275F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1233	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	275					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.825C>T	CCDS3849.1																																																																																				0.488	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		4	101	0	0	0	1	0	4	101				
HCN1	348980	broad.mit.edu	37	5	45262720	45262720	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:45262720C>T	ENST00000303230.4	-	8	2033	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	659					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R659L(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTCCTCATGCGGGAGGTCGG	0.567																																						ENST00000303230.4																			2	Substitution - Missense(2)	p.R659L(2)	lung(2)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1975-1977)cGc>cAc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							171.0	165.0	167.0					5																	45262720		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262720C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1976G>A	5.37:g.45262720C>T	ENSP00000307342:p.Arg659His						p.R659H	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2033	-			659						Missense_Mutation	SNP	ENST00000303230.4	37	c.1976G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.201204	0.01581	.	.	ENSG00000164588	ENST00000303230	T	0.75704	-0.96	5.52	4.65	0.58169	.	0.000000	0.52532	D	0.000078	T	0.63792	0.2541	L	0.44542	1.39	0.40974	D	0.98472	B	0.18968	0.032	B	0.12156	0.007	T	0.58165	-0.7684	10	0.08837	T	0.75	.	13.4624	0.61235	0.0:0.9252:0.0:0.0748	.	659	O60741	HCN1_HUMAN	H	659	ENSP00000307342:R659H	ENSP00000307342:R659H	R	-	2	0	HCN1	45298477	0.813000	0.29090	0.260000	0.24451	0.060000	0.15804	3.283000	0.51701	1.339000	0.45563	-0.140000	0.14226	CGC		0.567	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		62	67	0	0	0	1	0	62	67				
RER1	11079	broad.mit.edu	37	1	2334476	2334476	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:2334476C>T	ENST00000605895.1	+	7	637	c.504C>T	c.(502-504)caC>caT	p.H168H	RER1_ENST00000488353.1_Silent_p.H168H|RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	168				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CTCCCCAGCACATGATTAAGT	0.542																																						ENST00000605895.1																			0				endometrium(3)|kidney(1)	4						c.(502-504)caC>caT		retention in endoplasmic reticulum sorting receptor 1							125.0	121.0	122.0					1																	2334476		2033	4192	6225	SO:0001819	synonymous_variant	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2334476C>T	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.504C>T	1.37:g.2334476C>T						RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Silent_p.H168H|RER1_ENST00000378512.1_3'UTR	p.H168H	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	7	637	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	168	HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).				O95322	Silent	SNP	ENST00000605895.1	37	c.504C>T	CCDS41232.1																																																																																				0.542	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			48	101	0	0	0	1	0	48	101				
KMT2A	4297	broad.mit.edu	37	11	118377159	118377159	+	Missense_Mutation	SNP	T	T	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:118377159T>G	ENST00000389506.5	+	27	10543	c.10543T>G	c.(10543-10545)Tct>Gct	p.S3515A	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3518A|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3515					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCTGGGGGTTCTCCATCCTC	0.547																																						ENST00000534358.1																			0											c.(10552-10554)Tct>Gct		lysine (K)-specific methyltransferase 2A							71.0	71.0	71.0					11																	118377159		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118377159T>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10543T>G	11.37:g.118377159T>G	ENSP00000374157:p.Ser3515Ala					KMT2A_ENST00000389506.5_Missense_Mutation_p.S3515A|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477A	p.S3518A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10575	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10552T>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	T	1.246	-0.619924	0.03636	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.81739	-1.53;-1.53;-1.5	0.235	0.235	0.15431	.	0.474839	0.15013	U	0.285468	T	0.65678	0.2714	L	0.36672	1.1	0.09310	N	0.999997	B;B	0.26041	0.14;0.14	B;B	0.28991	0.097;0.097	T	0.49133	-0.8971	9	0.08381	T	0.77	.	.	.	.	.	3518;3515	E9PQG7;Q03164	.;MLL1_HUMAN	A	3518;3515;3477;2425	ENSP00000436786:S3518A;ENSP00000374157:S3515A;ENSP00000346516:S3477A	ENSP00000346516:S3477A	S	+	1	0	MLL	117882369	0.947000	0.32204	0.996000	0.52242	0.742000	0.42306	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	TCT		0.547	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		58	79	0	0	0	1	0	58	79				
MCHR1	2847	broad.mit.edu	37	22	41077325	41077325	+	Missense_Mutation	SNP	C	C	A	rs201808043		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr22:41077325C>A	ENST00000249016.4	+	2	1358	c.662C>A	c.(661-663)aCg>aAg	p.T221K	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	221					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCTCTTCCACGAAGTTCCGG	0.587																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(661-663)aCg>aAg		melanin-concentrating hormone receptor 1							156.0	132.0	140.0					22																	41077325		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077325C>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.662C>A	22.37:g.41077325C>A	ENSP00000249016:p.Thr221Lys					MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	p.T221K	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1358	+			221					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.662C>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504731	0.44558	.	.	ENSG00000128285	ENST00000249016	T	0.70749	-0.51	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.089884	0.85682	D	0.000000	T	0.50120	0.1597	N	0.11364	0.135	0.80722	D	1	P	0.39964	0.697	B	0.33890	0.172	T	0.59595	-0.7425	10	0.54805	T	0.06	.	14.1424	0.65327	0.0:0.8488:0.1511:0.0	.	221	Q99705	MCHR1_HUMAN	K	221	ENSP00000249016:T221K	ENSP00000249016:T221K	T	+	2	0	MCHR1	39407271	0.945000	0.32115	1.000000	0.80357	0.935000	0.57460	6.199000	0.72112	2.559000	0.86315	0.655000	0.94253	ACG		0.587	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		75	159	1	0	1.4051e-37	1	1.57041e-37	75	159				
PPP6R3	55291	broad.mit.edu	37	11	68369335	68369335	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68369335A>G	ENST00000393800.2	+	21	2451	c.2197A>G	c.(2197-2199)Aaa>Gaa	p.K733E	PPP6R3_ENST00000524845.1_Missense_Mutation_p.K704E|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K727E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K698E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K733E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K653E|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K501E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K653E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K687E|PPP6R3_ENST00000393799.2_Missense_Mutation_p.K733E	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	733					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAAAGCACAAAAGATTCTTT	0.443																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2197-2199)Aaa>Gaa		protein phosphatase 6, regulatory subunit 3							89.0	98.0	95.0					11																	68369335		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68369335A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2197A>G	11.37:g.68369335A>G	ENSP00000377389:p.Lys733Glu					PPP6R3_ENST00000393801.3_Missense_Mutation_p.K733E|PPP6R3_ENST00000393800.2_Missense_Mutation_p.K733E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K653E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K687E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K698E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K704E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K653E|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K727E|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K501E	p.K733E			Q5H9R7	PP6R3_HUMAN			21	2464	+			733					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2197A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	7.980	0.751073	0.15778	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.91	4.91	0.64330	.	0.045988	0.85682	D	0.000000	T	0.41558	0.1164	N	0.19112	0.55	0.47862	D	0.999539	P;B;B;B;B;B;P;B	0.39920	0.653;0.247;0.001;0.001;0.001;0.001;0.695;0.001	B;B;B;B;B;B;P;B	0.46275	0.233;0.125;0.007;0.007;0.006;0.003;0.51;0.01	T	0.28996	-1.0026	10	0.02654	T	1	.	14.7382	0.69434	1.0:0.0:0.0:0.0	.	416;501;653;704;727;733;733;653	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	E	733;733;501;704;687;727;733;653;653;698;440	ENSP00000377388:K733E;ENSP00000377389:K733E;ENSP00000434429:K501E;ENSP00000431415:K704E;ENSP00000265637:K687E;ENSP00000433058:K727E;ENSP00000377390:K733E;ENSP00000265636:K653E;ENSP00000437329:K653E;ENSP00000433565:K698E;ENSP00000436209:K440E	ENSP00000265636:K653E	K	+	1	0	PPP6R3	68125911	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.157000	0.89647	2.069000	0.61940	0.482000	0.46254	AAA		0.443	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		73	110	0	0	0	1	0	73	110				
CPT1A	1374	broad.mit.edu	37	11	68582878	68582878	+	Missense_Mutation	SNP	C	C	T	rs141658962		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68582878C>T	ENST00000265641.5	-	2	219	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CPT1A_ENST00000539743.1_Missense_Mutation_p.R22Q|CPT1A_ENST00000376618.2_Missense_Mutation_p.R22Q|CPT1A_ENST00000540367.1_Missense_Mutation_p.R22Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	22					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	ATGGCTCAGCCGCAGGTCAAT	0.458																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(64-66)cGg>cAg		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)	C	GLN/ARG,GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	79.0	72.0	75.0		65,65	-1.1	0.2	11	dbSNP_134	75	0,8588		0,0,4294	no	missense,missense	CPT1A	NM_001031847.2,NM_001876.3	43,43	0,2,6492	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	22/757,22/774	68582878	2,12986	2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68582878C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.65G>A	11.37:g.68582878C>T	ENSP00000265641:p.Arg22Gln					CPT1A_ENST00000376618.2_Missense_Mutation_p.R22Q|CPT1A_ENST00000540367.1_Missense_Mutation_p.R22Q|CPT1A_ENST00000539743.1_Missense_Mutation_p.R22Q	p.R22Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		2	219	-	Esophageal squamous(3;3.28e-14)		22					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.65G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	2.673	-0.277040	0.05679	4.55E-4	0.0	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.84146	-1.81;-1.81;-1.77;-1.77	4.6	-1.12	0.09808	.	0.750134	0.13092	N	0.414478	T	0.67002	0.2847	N	0.05467	-0.045	0.29698	N	0.840374	B;B;B	0.16166	0.004;0.015;0.016	B;B;B	0.14023	0.001;0.003;0.01	T	0.52351	-0.8587	10	0.17832	T	0.49	.	10.7631	0.46277	0.0:0.8872:0.0:0.1128	.	22;22;22	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	Q	22	ENSP00000439084:R22Q;ENSP00000365803:R22Q;ENSP00000265641:R22Q;ENSP00000446108:R22Q	ENSP00000265641:R22Q	R	-	2	0	CPT1A	68339454	0.428000	0.25522	0.185000	0.23176	0.508000	0.34012	0.962000	0.29280	-0.587000	0.05890	-0.339000	0.08088	CGG		0.458	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		16	80	0	0	0	1	0	16	80				
PADI1	29943	broad.mit.edu	37	1	17559436	17559436	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:17559436C>T	ENST00000375471.4	+	11	1376	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	PADI1_ENST00000537499.1_5'Flank|PADI1_ENST00000536552.1_5'Flank|PADI1_ENST00000413717.2_5'Flank	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	428					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACCCCCTGGGCCGGATCCTCA	0.692																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1282-1284)ggC>ggT		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						20.0	18.0	19.0					1																	17559436		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17559436C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1284C>T	1.37:g.17559436C>T							p.G428G	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	11	1376	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	428					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.1284C>T	CCDS178.1																																																																																				0.692	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		18	18	0	0	0	1	0	18	18				
CHD2	1106	broad.mit.edu	37	15	93567883	93567883	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:93567883C>T	ENST00000394196.4	+	39	6503	c.5435C>T	c.(5434-5436)tCa>tTa	p.S1812L		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1812					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGGAGAGATCACTAGAACAG	0.463																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5434-5436)tCa>tTa		chromodomain helicase DNA binding protein 2							75.0	72.0	73.0					15																	93567883		1862	4107	5969	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567883C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5435C>T	15.37:g.93567883C>T	ENSP00000377747:p.Ser1812Leu						p.S1812L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		39	6503	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1812					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5435C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318462	0.81469	.	.	ENSG00000173575	ENST00000394196	D	0.92099	-2.97	5.69	5.69	0.88448	.	.	.	.	.	D	0.85779	0.5776	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.24974	0.057	D	0.86812	0.1999	9	0.66056	D	0.02	-6.177	20.181	0.98201	0.0:1.0:0.0:0.0	.	1812	O14647	CHD2_HUMAN	L	1812	ENSP00000377747:S1812L	ENSP00000377747:S1812L	S	+	2	0	CHD2	91368887	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	7.017000	0.76399	2.840000	0.97914	0.655000	0.94253	TCA		0.463	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		6	105	0	0	0	1	0	6	105				
WISP1	8840	broad.mit.edu	37	8	134232918	134232918	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:134232918C>T	ENST00000250160.6	+	3	550	c.444C>T	c.(442-444)gaC>gaT	p.D148D	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	148	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.D148E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGTGCATCGACGGCGCGGTGG	0.667																																						ENST00000250160.6																			1	Substitution - Missense(1)	p.D148E(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(442-444)gaC>gaT		WNT1 inducible signaling pathway protein 1							98.0	82.0	87.0					8																	134232918		2203	4300	6503	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232918C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.444C>T	8.37:g.134232918C>T						WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron	p.D148D	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	550	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		148			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.444C>T	CCDS6371.1																																																																																				0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		64	122	0	0	0	1	0	64	122				
DNAJA2	10294	broad.mit.edu	37	16	46998681	46998681	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:46998681C>T	ENST00000317089.5	-	6	831	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	206					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCTTCCCTTCACATTTTTTA	0.383																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(616-618)Gaa>Aaa		DnaJ (Hsp40) homolog, subfamily A, member 2							172.0	158.0	163.0					16																	46998681		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46998681C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.616G>A	16.37:g.46998681C>T	ENSP00000314030:p.Glu206Lys						p.E206K	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			6	831	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	206					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.616G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823601	0.50739	.	.	ENSG00000069345	ENST00000317089	T	0.35789	1.29	6.17	6.17	0.99709	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.045861	0.85682	D	0.000000	T	0.15392	0.0371	N	0.01250	-0.93	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31696	-0.9934	10	0.02654	T	1	-21.4236	20.8794	0.99867	0.0:1.0:0.0:0.0	.	206	O60884	DNJA2_HUMAN	K	206	ENSP00000314030:E206K	ENSP00000314030:E206K	E	-	1	0	DNAJA2	45556182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.526000	0.81920	2.941000	0.99782	0.655000	0.94253	GAA		0.383	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			48	78	0	0	0	1	0	48	78				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	45	0	0	0	1	0	3	45				
ADH1B	125	broad.mit.edu	37	4	100232046	100232046	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:100232046C>G	ENST00000305046.8	-	8	1046	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	ADH1B_ENST00000394887.3_Missense_Mutation_p.E287Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	327					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GGGATACCTTCTTTACTCTTA	0.328																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(979-981)Gaa>Caa		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						119.0	122.0	121.0					4																	100232046		2203	4299	6502	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232046C>G	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.979G>C	4.37:g.100232046C>G	ENSP00000306606:p.Glu327Gln					ADH1B_ENST00000394887.3_Missense_Mutation_p.E287Q	p.E327Q			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	8	1046	-			327					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.979G>C	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470595	0.26423	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.08984	3.03;3.03	3.66	3.66	0.41972	GroES-like (1);Alcohol dehydrogenase, C-terminal (1);	0.296273	0.34507	N	0.003903	T	0.13927	0.0337	N	0.17838	0.53	0.58432	D	0.999999	B;B;B	0.25772	0.005;0.006;0.134	B;B;P	0.47864	0.016;0.04;0.559	T	0.38802	-0.9644	10	0.54805	T	0.06	-8.8668	15.3228	0.74135	0.0:1.0:0.0:0.0	.	314;287;327	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	Q	327;287;314	ENSP00000306606:E327Q;ENSP00000378351:E287Q	ENSP00000306606:E327Q	E	-	1	0	ADH1B	100451069	1.000000	0.71417	0.604000	0.28916	0.046000	0.14306	5.193000	0.65120	1.722000	0.51474	0.561000	0.74099	GAA		0.328	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		74	117	0	0	0	1	0	74	117				
PRR14	78994	broad.mit.edu	37	16	30666042	30666042	+	Missense_Mutation	SNP	C	C	T	rs147047966		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:30666042C>T	ENST00000542965.2	+	7	1207	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	PRR14_ENST00000300835.4_Missense_Mutation_p.R251C			Q9BWN1	PRR14_HUMAN	proline rich 14	251	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCGCTCTTCCGTTCCGTCCG	0.642																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(751-753)Cgt>Tgt		proline rich 14		C	CYS/ARG	0,4394		0,0,2197	48.0	42.0	44.0		751	5.8	1.0	16	dbSNP_134	44	3,8597	2.2+/-6.3	0,3,4297	yes	missense	PRR14	NM_024031.2	180	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	251/586	30666042	3,12991	2197	4300	6497	SO:0001583	missense	78994							g.chr16:30666042C>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.751C>T	16.37:g.30666042C>T	ENSP00000441641:p.Arg251Cys					PRR14_ENST00000300835.4_Missense_Mutation_p.R251C	p.R251C			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1207	+			251			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.751C>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455553	0.84209	0.0	3.49E-4	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.55588	0.51;0.51	5.75	5.75	0.90469	.	0.208555	0.34411	N	0.003988	T	0.64549	0.2608	L	0.53249	1.67	0.52501	D	0.999953	D	0.76494	0.999	P	0.57283	0.817	T	0.65524	-0.6147	10	0.62326	D	0.03	-3.4038	16.8596	0.86014	0.0:1.0:0.0:0.0	.	251	Q9BWN1	PRR14_HUMAN	C	224;251;251	ENSP00000300835:R251C;ENSP00000441641:R251C	ENSP00000287463:R224C	R	+	1	0	PRR14	30573543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.348000	0.59379	2.716000	0.92895	0.643000	0.83706	CGT		0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		5	115	0	0	0	1	0	5	115				
FAM122A	116224	broad.mit.edu	37	9	71395286	71395286	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr9:71395286A>G	ENST00000394264.3	+	1	323	c.206A>G	c.(205-207)cAc>cGc	p.H69R	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	69										endometrium(1)|lung(2)	3						CCGAGCCGCCACGGCCTGCTG	0.657																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(205-207)cAc>cGc		family with sequence similarity 122A							36.0	42.0	40.0					9																	71395286		2203	4290	6493	SO:0001583	missense	116224							g.chr9:71395286A>G	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.206A>G	9.37:g.71395286A>G	ENSP00000377807:p.His69Arg					PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	p.H69R	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	323	+			69						Missense_Mutation	SNP	ENST00000394264.3	37	c.206A>G	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.645583	0.29246	.	.	ENSG00000187866	ENST00000394264	T	0.56275	0.47	4.2	3.04	0.35103	.	0.106321	0.64402	D	0.000003	T	0.44286	0.1286	M	0.64170	1.965	0.33247	D	0.558009	B	0.28636	0.218	B	0.22386	0.039	T	0.53387	-0.8446	10	0.37606	T	0.19	-18.1578	7.8573	0.29489	0.7892:0.2108:0.0:0.0	.	69	Q96E09	F122A_HUMAN	R	69	ENSP00000377807:H69R	ENSP00000377807:H69R	H	+	2	0	FAM122A	70585106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.391000	0.44424	0.929000	0.37192	0.460000	0.39030	CAC		0.657	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		58	100	0	0	0	1	0	58	100				
INTS1	26173	broad.mit.edu	37	7	1527562	1527562	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:1527562C>T	ENST00000404767.3	-	19	2435	c.2350G>A	c.(2350-2352)Gat>Aat	p.D784N	INTS1_ENST00000389470.4_Missense_Mutation_p.D912N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	784					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCTCCTCATCCGTCAGGGTG	0.677																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(2734-2736)Gat>Aat		integrator complex subunit 1							113.0	127.0	122.0					7																	1527562		2117	4230	6347	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1527562C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2350G>A	7.37:g.1527562C>T	ENSP00000385722:p.Asp784Asn					INTS1_ENST00000404767.3_Missense_Mutation_p.D784N	p.D912N			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	20	2733	-		Ovarian(82;0.0253)	784					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.2734G>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198138	0.58126	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48836	0.8;0.83	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.46157	1.445	0.80722	D	1	B;B	0.33413	0.294;0.411	B;B	0.28709	0.093;0.072	T	0.27640	-1.0068	10	0.21540	T	0.41	.	17.7192	0.88345	0.0:1.0:0.0:0.0	.	912;784	A4D213;Q8N201	.;INT1_HUMAN	N	784;912	ENSP00000385722:D784N;ENSP00000374121:D912N	ENSP00000374121:D912N	D	-	1	0	INTS1	1494088	1.000000	0.71417	0.997000	0.53966	0.527000	0.34593	7.316000	0.79007	2.186000	0.69663	0.561000	0.74099	GAT		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			8	290	0	0	0	1	0	8	290				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		46	61	0	0	0	1	0	46	61				
PTPRR	5801	broad.mit.edu	37	12	71056321	71056321	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:71056321C>T	ENST00000283228.2	-	11	2014	c.1562G>A	c.(1561-1563)aGt>aAt	p.S521N	PTPRR_ENST00000440835.2_Missense_Mutation_p.S276N|PTPRR_ENST00000342084.4_Missense_Mutation_p.S409N|PTPRR_ENST00000378778.1_Missense_Mutation_p.S315N|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000549308.1_Missense_Mutation_p.S276N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	521	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTCATTTACACTGATAACCAG	0.363																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1561-1563)aGt>aAt		protein tyrosine phosphatase, receptor type, R							132.0	115.0	121.0					12																	71056321		2203	4299	6502	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71056321C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1562G>A	12.37:g.71056321C>T	ENSP00000283228:p.Ser521Asn					PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.S276N|PTPRR_ENST00000342084.4_Missense_Mutation_p.S409N|PTPRR_ENST00000378778.1_Missense_Mutation_p.S315N|PTPRR_ENST00000549308.1_Missense_Mutation_p.S276N	p.S521N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	11	2014	-			521			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1562G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073528	0.36566	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.67	-0.584	0.11702	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.458783	0.20224	N	0.096629	T	0.23133	0.0559	L	0.43554	1.36	0.28648	N	0.906821	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.24905	-1.0147	10	0.19147	T	0.46	-2.3077	13.4684	0.61268	0.0:0.8486:0.0:0.1514	.	370;409;315;521	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	N	276;521;315;409;276	ENSP00000391750:S276N;ENSP00000283228:S521N;ENSP00000368054:S315N;ENSP00000339605:S409N;ENSP00000446943:S276N	ENSP00000283228:S521N	S	-	2	0	PTPRR	69342588	0.396000	0.25262	0.962000	0.40283	0.991000	0.79684	0.116000	0.15561	-0.311000	0.08754	0.655000	0.94253	AGT		0.363	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		23	39	0	0	0	1	0	23	39				
MSANTD4	84437	broad.mit.edu	37	11	105880518	105880518	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:105880518C>T	ENST00000301919.4	-	3	2197	c.782G>A	c.(781-783)aGa>aAa	p.R261K	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	261						nucleus (GO:0005634)											CAACTTTTCTCTTTCAATCTG	0.443																																						ENST00000301919.4																			0											c.(781-783)aGa>aAa		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							102.0	97.0	99.0					11																	105880518		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880518C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.782G>A	11.37:g.105880518C>T	ENSP00000304713:p.Arg261Lys						p.R261K	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	2197	-			261					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.782G>A	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075580	0.36662	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.29908	0.895	0.43608	D	0.995977	B	0.31054	0.306	B	0.31547	0.132	T	0.39187	-0.9626	9	0.26408	T	0.33	-22.493	19.684	0.95974	0.0:1.0:0.0:0.0	.	261	Q8NCY6	K1826_HUMAN	K	261	.	ENSP00000304713:R261K	R	-	2	0	KIAA1826	105385728	0.733000	0.28132	0.126000	0.21872	0.392000	0.30506	6.838000	0.75359	2.654000	0.90174	0.491000	0.48974	AGA		0.443	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		69	107	0	0	0	1	0	69	107				
LINC01322	103695433	broad.mit.edu	37	3	165320478	165320481	+	lincRNA	DEL	TATA	TATA	-	rs138565244|rs562060641|rs150429698|rs140783003|rs398106703|rs35354940	byFrequency	TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:165320478_165320481delTATA	ENST00000496693.1	+	0	508																											atttttattttatatatatatata	0.314														3999	0.798522	0.7413	0.6744	5008	,	,		8781	0.8462		0.8241	False		,,,				2504	0.8885					ENST00000496693.1																			0																																																			0							g.chr3:165320478_165320481delTATA																													3.37:g.165320486_165320489delTATA														0	508	+									RNA	DEL	ENST00000496693.1	37																																																																																						0.314	RP11-85M11.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000350253.1			2	4						2	4	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78215586	78215587	+	lincRNA	INS	-	-	T	rs371932549	byFrequency	TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:78215586_78215587insT	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							AAAATGAGAAATTTAAAAAAAA	0.441													tt|TTT|TTTT|cryptic_indel	51	0.0101837	0.0333	0.0029	5008	,	,		18873	0.001		0.001	False		,,,				2504	0.0031					ENST00000567226.1																			0																																																			0							g.chr15:78215586_78215587insT																													15.37:g.78215589_78215589dupT														0	225	-									RNA	INS	ENST00000565869.1	37																																																																																						0.441	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	2						4	2	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24583713	24583718	+	In_Frame_Del	DEL	AAAGAG	AAAGAG	-	rs148143334|rs199567078	byFrequency	TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:24583713_24583718delAAAGAG	ENST00000319715.4	+	18	5758_5763	c.5326_5331delAAAGAG	c.(5326-5331)aaagagdel	p.KE1780del	RBBP6_ENST00000348022.2_In_Frame_Del_p.KE1746del|RBBP6_ENST00000381039.3_In_Frame_Del_p.KE940del	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1780					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		gaacaaagataaagagaaggagaagg	0.311														121	0.0241613	0.0045	0.0375	5008	,	,		24421	0.0		0.0726	False		,,,				2504	0.0164					ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(5326-5331)del		retinoblastoma binding protein 6			,	75,3587		6,63,1762					,	0.7	1.0		dbSNP_134	25	547,6527		74,399,3064	no	coding,coding	RBBP6	NM_018703.3,NM_006910.4	,	80,462,4826	A1A1,A1R,RR		7.7325,2.0481,5.7936	,	,		622,10114				SO:0001651	inframe_deletion	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583713_24583718delAAAGAG		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.5326_5331delAAAGAG	16.37:g.24583713_24583718delAAAGAG	ENSP00000317872:p.Lys1780_Glu1781del					RBBP6_ENST00000381039.3_In_Frame_Del_p.KE940del|RBBP6_ENST00000348022.2_In_Frame_Del_p.KE1746del	p.KE1780del	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5758_5763	+			1780					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	In_Frame_Del	DEL	ENST00000319715.4	37	c.5326_5331delAAAGAG	CCDS10621.1																																																																																				0.311	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		5	4						5	4	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58064624	58064625	+	lincRNA	DEL	TT	TT	-	rs544627779	byFrequency	TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr17:58064624_58064625delTT	ENST00000586209.1	+	0	158																											ttTTTTGGTGTTTTTttttttt	0.351																																						ENST00000586209.1																			0																																																			0							g.chr17:58064624_58064625delTT																													17.37:g.58064634_58064635delTT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.351	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			2	4						2	4	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740540	58740544	+	Frame_Shift_Del	DEL	TGACT	TGACT	-			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr17:58740540_58740544delTGACT	ENST00000305921.3	+	6	1677_1681	c.1445_1449delTGACT	c.(1444-1449)ctgactfs	p.LT482fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	482					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GCTAAAGCCCTGACTTTAAGGATAC	0.385											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1444-1449)cfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740540_58740544delTGACT	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1445_1449delTGACT	17.37:g.58740540_58740544delTGACT	ENSP00000306682:p.Leu482fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.LT482fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1677_1681	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		482					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1445_1449delTGACT	CCDS11625.1																																																																																				0.385	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		37	69						37	69	---	---	---	---
