#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
COL6A1	1291	broad.mit.edu	37	21	47417371	47417371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr21:47417371G>A	ENST00000361866.3	+	21	1549	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	479	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGGCTACCGAGGCGATGAGGG	0.662																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1435-1437)Ggc>Agc		collagen, type VI, alpha 1	Palifermin(DB00039)						64.0	57.0	59.0					21																	47417371		2203	4300	6503	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47417371G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1435G>A	21.37:g.47417371G>A	ENSP00000355180:p.Gly479Ser						p.G479S	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	21	1549	+	all_hematologic(128;0.24)		479			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.1435G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801724	0.50315	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.99418	-5.87	3.44	3.44	0.39384	.	0.143965	0.46758	D	0.000276	D	0.99729	0.9894	H	0.99156	4.45	0.52501	D	0.999953	D	0.89917	1.0	D	0.91635	0.999	D	0.97015	0.9739	10	0.87932	D	0	-15.9902	12.0709	0.53616	0.0:0.0:1.0:0.0	.	479	P12109	CO6A1_HUMAN	S	479	ENSP00000355180:G479S	ENSP00000355180:G479S	G	+	1	0	COL6A1	46241799	1.000000	0.71417	0.991000	0.47740	0.447000	0.32167	3.630000	0.54273	1.950000	0.56595	0.297000	0.19635	GGC		0.662	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		8	42	0	0	0	1	0	8	42				
SCN4A	6329	broad.mit.edu	37	17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1183V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAACTTGCCGGCAAACAGGTT	0.542																																						ENST00000578147.1																			1	Substitution - Missense(1)	p.A1183V(1)	lung(1)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3547-3549)gCc>gTc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						250.0	250.0	250.0					17																	62022892		2201	4300	6501	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022892G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3548C>T	17.37:g.62022892G>A	ENSP00000396320:p.Ala1183Val					SCN4A_ENST00000435607.1_Missense_Mutation_p.A1183V	p.A1183V			P35499	SCN4A_HUMAN			19	3624	-			1183					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3548C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018393	0.93404	.	.	ENSG00000007314	ENST00000435607	D	0.97529	-4.42	3.91	3.91	0.45181	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99474	1.0946	10	0.87932	D	0	.	15.4523	0.75282	0.0:0.0:1.0:0.0	.	1183	P35499	SCN4A_HUMAN	V	1183	ENSP00000396320:A1183V	ENSP00000396320:A1183V	A	-	2	0	SCN4A	59376624	1.000000	0.71417	0.990000	0.47175	0.939000	0.58152	9.522000	0.98032	2.196000	0.70406	0.561000	0.74099	GCC		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		5	273	0	0	0	1	0	5	273				
DNHD1	144132	broad.mit.edu	37	11	6519690	6519690	+	Missense_Mutation	SNP	G	G	A	rs371771404		TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr11:6519690G>A	ENST00000527990.2	+	1	245	c.245G>A	c.(244-246)cGc>cAc	p.R82H	DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000254579.6_Missense_Mutation_p.R82H|DNHD1_ENST00000354685.3_Missense_Mutation_p.R82H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	82					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGCTTGGCGCTATCTTCAT	0.557																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(244-246)cGc>cAc		dynein heavy chain domain 1							124.0	103.0	110.0					11																	6519690		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6519690G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.245G>A	11.37:g.6519690G>A	ENSP00000436180:p.Arg82His					DNHD1_ENST00000354685.3_Missense_Mutation_p.R82H|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000527990.2_Missense_Mutation_p.R82H	p.R82H	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	809	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	82					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.245G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	7.164	0.586333	0.13749	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.26067	1.76;2.78;1.76	5.33	-6.44	0.01920	.	1.158800	0.06137	N	0.671675	T	0.07098	0.0180	N	0.01576	-0.805	0.22796	N	0.998729	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.38023	-0.9680	10	0.13853	T	0.58	.	7.1029	0.25348	0.3926:0.0:0.4584:0.1491	.	82;82	Q96M86;Q96M86-4	DNHD1_HUMAN;.	H	82	ENSP00000254579:R82H;ENSP00000346716:R82H;ENSP00000436180:R82H	ENSP00000254579:R82H	R	+	2	0	DNHD1	6476266	0.517000	0.26226	0.943000	0.38184	0.628000	0.37860	0.116000	0.15561	-0.723000	0.04915	-1.326000	0.01283	CGC		0.557	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		18	105	0	0	0	1	0	18	105				
TEKT1	83659	broad.mit.edu	37	17	6704170	6704170	+	Silent	SNP	C	C	T	rs536852793	byFrequency	TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:6704170C>T	ENST00000338694.2	-	7	1074	c.945G>A	c.(943-945)acG>acA	p.T315T	TEKT1_ENST00000535086.1_Silent_p.T169T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	315						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCTCCAAGCGCGTATGAGCCA	0.502											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(943-945)acG>acA		tektin 1							205.0	194.0	197.0					17																	6704170		2203	4300	6503	SO:0001819	synonymous_variant	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6704170C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.945G>A	17.37:g.6704170C>T			OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	TEKT1_ENST00000535086.1_Silent_p.T169T	p.T315T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			7	1074	-		Myeloproliferative disorder(207;0.0255)	315					D3DTM7	Silent	SNP	ENST00000338694.2	37	c.945G>A	CCDS11083.1																																																																																				0.502	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		15	160	0	0	0	1	0	15	160				
ZNF280D	54816	broad.mit.edu	37	15	56924126	56924126	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr15:56924126T>C	ENST00000267807.7	-	22	2726	c.2510A>G	c.(2509-2511)gAa>gGa	p.E837G	ZNF280D_ENST00000559237.1_Missense_Mutation_p.E824G|RP11-1129I3.1_ENST00000562300.1_RNA	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTTTTCTTTTCCACTTTATC	0.353																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(2470-2472)gAa>gGa		zinc finger protein 280D							199.0	189.0	192.0					15																	56924126		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56924126T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2510A>G	15.37:g.56924126T>C	ENSP00000267807:p.Glu837Gly					ZNF280D_ENST00000267807.7_Missense_Mutation_p.E837G	p.E824G	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	21	3154	-			837					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.2471A>G	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	0.170	-1.072110	0.01918	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.03441	3.93	5.66	0.315	0.15852	.	.	.	.	.	T	0.02767	0.0083	N	0.24115	0.695	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.43686	-0.9376	9	0.41790	T	0.15	-5.9466	6.3368	0.21300	0.13:0.2897:0.0:0.5803	.	837	Q6N043	Z280D_HUMAN	G	837;824	ENSP00000267807:E837G	ENSP00000267807:E837G	E	-	2	0	ZNF280D	54711418	0.026000	0.19158	0.978000	0.43139	0.188000	0.23474	0.316000	0.19469	0.087000	0.17167	-0.360000	0.07572	GAA		0.353	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		40	166	0	0	0	1	0	40	166				
TAF1L	138474	broad.mit.edu	37	9	32632685	32632685	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr9:32632685A>G	ENST00000242310.4	-	1	2982	c.2893T>C	c.(2893-2895)Tgt>Cgt	p.C965R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	965					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTAGGAGACACTTGCCCTTC	0.468																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2893-2895)Tgt>Cgt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							152.0	142.0	146.0					9																	32632685		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632685A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2893T>C	9.37:g.32632685A>G	ENSP00000418379:p.Cys965Arg						p.C965R	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2982	-			965					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2893T>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.340945	0.41498	.	.	ENSG00000122728	ENST00000242310	T	0.14391	2.51	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.047285	0.85682	D	0.000000	T	0.31765	0.0807	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.03630	-1.1018	10	0.87932	D	0	.	5.8599	0.18740	1.0:0.0:0.0:0.0	.	965	Q8IZX4	TAF1L_HUMAN	R	965	ENSP00000418379:C965R	ENSP00000418379:C965R	C	-	1	0	TAF1L	32622685	1.000000	0.71417	0.993000	0.49108	0.868000	0.49771	5.877000	0.69675	0.426000	0.26116	0.164000	0.16699	TGT		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			26	109	0	0	0	1	0	26	109				
ELK4	2005	broad.mit.edu	37	1	205585723	205585723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr1:205585723T>C	ENST00000357992.4	-	5	1586	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G		NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	416					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGAAGGTCCATCCAGCCCAGA	0.453			T	SLC45A3	prostate																																	ENST00000357992.4				Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate	SLC45A3/ELK4(18)	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12						c.(1246-1248)gAt>gGt		ELK4, ETS-domain protein (SRF accessory protein 1)							92.0	86.0	88.0					1																	205585723		2203	4300	6503	SO:0001583	missense	2005							g.chr1:205585723T>C	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1247A>G	1.37:g.205585723T>C	ENSP00000350681:p.Asp416Gly						p.D416G	NM_001973.3	NP_001964.2			BRCA - Breast invasive adenocarcinoma(75;0.0908)		5	1586	-	Breast(84;0.07)							P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.1247A>G	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	T	32	5.130672	0.94473	.	.	ENSG00000158711	ENST00000539916;ENST00000357992	T	0.52526	0.66	5.95	5.95	0.96441	.	0.042288	0.85682	D	0.000000	T	0.66187	0.2764	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66260	-0.5968	10	0.48119	T	0.1	.	15.2341	0.73416	0.0:0.0:0.0:1.0	.	416	P28324	ELK4_HUMAN	G	506;416	ENSP00000350681:D416G	ENSP00000350681:D416G	D	-	2	0	ELK4	203852346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.994000	0.88315	2.280000	0.76307	0.460000	0.39030	GAT		0.453	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		6	56	0	0	0	1	0	6	56				
TUBB8P7	197331	broad.mit.edu	37	16	90161994	90161994	+	RNA	SNP	G	G	A	rs28608881	byFrequency	TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr16:90161994G>A	ENST00000564451.1	+	0	1347				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGCGCTTCCCGGGCCAGCTGA	0.592													.|||	532	0.10623	0.1188	0.1182	5008	,	,		12234	0.001		0.2227	False		,,,				2504	0.0695					ENST00000567960.1																			0																																																			0							g.chr16:90161994G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161994G>A						TUBB8P7_ENST00000564451.1_RNA								0	730	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.592	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	26	0	0	0	1	0	4	26				
WDR27	253769	broad.mit.edu	37	6	170070679	170070679	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:170070679T>A	ENST00000448612.1	-	4	551	c.442A>T	c.(442-444)Atg>Ttg	p.M148L	WDR27_ENST00000420344.2_Missense_Mutation_p.M148L|WDR27_ENST00000333572.6_Missense_Mutation_p.M148L|WDR27_ENST00000423258.1_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	148						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATATCCAGCATGAATATTTTG	0.493																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(442-444)Atg>Ttg		WD repeat domain 27							101.0	100.0	100.0					6																	170070679		1933	4131	6064	SO:0001583	missense	253769							g.chr6:170070679T>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.442A>T	6.37:g.170070679T>A	ENSP00000416289:p.Met148Leu					WDR27_ENST00000420344.2_Missense_Mutation_p.M148L|WDR27_ENST00000448612.1_Missense_Mutation_p.M148L|WDR27_ENST00000423258.1_Intron	p.M148L			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	4	961	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	148					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.442A>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375476	0.24857	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000420344	T;T;T	0.64991	1.34;1.21;-0.13	5.52	-10.4	0.00318	.	0.752564	0.12257	N	0.485140	T	0.18635	0.0447	L	0.46157	1.445	0.09310	N	1	B;B	0.18610	0.001;0.029	B;B	0.20577	0.0;0.03	T	0.23797	-1.0178	10	0.08381	T	0.77	-9.4794	8.4155	0.32668	0.0:0.3922:0.2982:0.3096	.	148;148	F2Z2U5;C9JGV0	.;.	L	148	ENSP00000416289:M148L;ENSP00000330265:M148L;ENSP00000406114:M148L	ENSP00000330265:M148L	M	-	1	0	WDR27	169812604	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.772000	0.01787	-2.042000	0.00914	-0.619000	0.04042	ATG		0.493	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		12	52	0	0	0	1	0	12	52				
MYH7	4625	broad.mit.edu	37	14	23897871	23897871	+	Silent	SNP	G	G	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr14:23897871G>A	ENST00000355349.3	-	15	1578	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	472	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTGCTCAAAGCTGTTGAACT	0.577																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1414-1416)agC>agT		myosin, heavy chain 7, cardiac muscle, beta							77.0	63.0	68.0					14																	23897871		2203	4297	6500	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23897871G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1416C>T	14.37:g.23897871G>A							p.S472S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	15	1578	-	all_cancers(95;2.54e-05)		472			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.1416C>T	CCDS9601.1																																																																																				0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	61	0	0	0	1	0	4	61				
METTL2A	339175	broad.mit.edu	37	17	60526028	60526028	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:60526028A>G	ENST00000311506.5	+	9	1111	c.1075A>G	c.(1075-1077)Aca>Gca	p.T359A		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	359					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AAAGCAACTGACAATGTACCG	0.532																																						ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(1075-1077)Aca>Gca		methyltransferase like 2A							157.0	158.0	158.0					17																	60526028		2203	4300	6503	SO:0001583	missense	339175						methyltransferase activity	g.chr17:60526028A>G	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.1075A>G	17.37:g.60526028A>G	ENSP00000309610:p.Thr359Ala						p.T359A	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		9	1111	+			359					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	37	c.1075A>G	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875403	0.72180	.	.	ENSG00000087995	ENST00000311506	T	0.03745	3.82	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.05456	0.0144	L	0.45352	1.415	0.58432	D	0.999997	B	0.29571	0.249	B	0.34489	0.184	T	0.32322	-0.9911	10	0.66056	D	0.02	0.8045	11.7964	0.52102	1.0:0.0:0.0:0.0	.	359	Q96IZ6	MTL2A_HUMAN	A	359	ENSP00000309610:T359A	ENSP00000309610:T359A	T	+	1	0	METTL2A	57879760	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.085000	0.76875	1.668000	0.50843	0.414000	0.27820	ACA		0.532	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		4	199	0	0	0	1	0	4	199				
KMT2C	58508	broad.mit.edu	37	7	151864270	151864270	+	Silent	SNP	A	A	G			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr7:151864270A>G	ENST00000262189.6	-	42	9929	c.9711T>C	c.(9709-9711)gtT>gtC	p.V3237V	KMT2C_ENST00000355193.2_Silent_p.V3237V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3237	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTGTTCAGTAACATGCTTGA	0.393																																						ENST00000355193.2																			0											c.(9709-9711)gtT>gtC		lysine (K)-specific methyltransferase 2C							147.0	127.0	134.0					7																	151864270		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151864270A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9711T>C	7.37:g.151864270A>G						KMT2C_ENST00000262189.6_Silent_p.V3237V	p.V3237V							42	9929	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.9711T>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	9.922	1.212473	0.22289	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.39911	0.1096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47636	-0.9102	4	.	.	.	.	4.7764	0.13182	0.3096:0.1955:0.4076:0.0873	.	.	.	.	H	743	.	.	Y	-	1	0	MLL3	151495203	0.310000	0.24527	0.208000	0.23602	0.993000	0.82548	-0.219000	0.09228	-2.377000	0.00597	-0.280000	0.10049	TAC		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			20	112	0	0	0	1	0	20	112				
OR5H6	79295	broad.mit.edu	37	3	97983325	97983325	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr3:97983325G>T	ENST00000383696.2	+	1	238	c.197G>T	c.(196-198)tGg>tTg	p.W66L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTTCTCATCTGGAAAGACCCT	0.418																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(196-198)tGg>tTg		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							231.0	237.0	235.0					3																	97983325		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983325G>T	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.197G>T	3.37:g.97983325G>T	ENSP00000373196:p.Trp66Leu					RP11-325B23.2_ENST00000508616.1_lincRNA	p.W66L	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	238	+			66					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.197G>T	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	3.248	-0.153930	0.06585	.	.	ENSG00000230301	ENST00000383696	T	0.03717	3.83	2.19	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.977410	0.08350	N	0.959427	T	0.02455	0.0075	N	0.13198	0.31	0.09310	N	1	P	0.35821	0.523	B	0.37267	0.245	T	0.43261	-0.9402	10	0.11485	T	0.65	.	7.0904	0.25282	0.0:0.4777:0.5223:0.0	.	66	Q8NGV6	OR5H6_HUMAN	L	66	ENSP00000373196:W66L	ENSP00000373196:W66L	W	+	2	0	OR5H6	99466015	0.000000	0.05858	0.769000	0.31535	0.105000	0.19272	-0.591000	0.05753	1.220000	0.43490	0.194000	0.17425	TGG		0.418	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			9	304	1	0	3.09899e-07	1	3.09899e-07	9	304				
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130									DNM1 pseudogene 47																		GACATCAACATGAACACCATC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305084T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305084T>C														0	13130	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	22	0	0	0	1	0	3	22				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	23	0	0	0	1	0	3	23				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	39	0	0	0	1	0	6	39				
CDH17	1015	broad.mit.edu	37	8	95178176	95178176	+	Silent	SNP	A	A	G			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr8:95178176A>G	ENST00000027335.3	-	10	1219	c.1095T>C	c.(1093-1095)caT>caC	p.H365H	CDH17_ENST00000450165.2_Silent_p.H365H|CDH17_ENST00000441892.2_Silent_p.H151H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	365	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCCCTGTCATGTGCAGTAA	0.408																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1093-1095)caT>caC		cadherin 17, LI cadherin (liver-intestine)							75.0	75.0	75.0					8																	95178176		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95178176A>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1095T>C	8.37:g.95178176A>G						CDH17_ENST00000441892.2_Silent_p.H151H|CDH17_ENST00000450165.2_Silent_p.H365H	p.H365H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		10	1219	-	Breast(36;4.65e-06)		365			Cadherin 4.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.1095T>C	CCDS6260.1																																																																																				0.408	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		8	44	0	0	0	1	0	8	44				
GPR115	221393	broad.mit.edu	37	6	47682296	47682296	+	Missense_Mutation	SNP	C	C	T	rs536284658		TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:47682296C>T	ENST00000283303.2	+	6	1573	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.R496C|GPR115_ENST00000327753.3_Missense_Mutation_p.R439C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	439					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R439C(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATCATACATGCGTCACGTGTG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		22405	0.0		0.0	False		,,,				2504	0.001				GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			1	Substitution - Missense(1)	p.R439C(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1315-1317)Cgt>Tgt		G protein-coupled receptor 115							228.0	202.0	211.0					6																	47682296		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682296C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1315C>T	6.37:g.47682296C>T	ENSP00000283303:p.Arg439Cys					GPR115_ENST00000371220.1_Missense_Mutation_p.R496C|GPR115_ENST00000327753.3_Missense_Mutation_p.R439C	p.R439C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1573	+			439					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1315C>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132511	0.77662	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.57595	0.39;0.39;0.39	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.154657	0.47093	D	0.000249	T	0.73497	0.3594	M	0.90977	3.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.79085	-0.1948	10	0.87932	D	0	-8.6819	13.5824	0.61911	0.1552:0.8448:0.0:0.0	.	439	Q8IZF3	GP115_HUMAN	C	496;439;439	ENSP00000360264:R496C;ENSP00000328319:R439C;ENSP00000283303:R439C	ENSP00000283303:R439C	R	+	1	0	GPR115	47790255	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.754000	0.62191	2.721000	0.93114	0.655000	0.94253	CGT		0.483	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		32	129	0	0	0	1	0	32	129				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			9	85	0	0	0	1	0	9	85				
BMP5	653	broad.mit.edu	37	6	55659164	55659164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:55659164delC	ENST00000370830.3	-	3	1443	c.745delG	c.(745-747)gtcfs	p.V249fs	BMP5_ENST00000446683.2_Frame_Shift_Del_p.V249fs	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	249					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATATCAAAGACAAGCCAACCC	0.403																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(745-747)tcfs		bone morphogenetic protein 5							103.0	103.0	103.0					6																	55659164		2203	4300	6503	SO:0001589	frameshift_variant	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55659164delC		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.745delG	6.37:g.55659164delC	ENSP00000359866:p.Val249fs					BMP5_ENST00000446683.2_Frame_Shift_Del_p.V249fs	p.V249fs	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	1443	-	Lung NSC(77;0.0462)		249					B4E0Y4|Q9H547|Q9NTM5	Frame_Shift_Del	DEL	ENST00000370830.3	37	c.745delG	CCDS4958.1																																																																																				0.403	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			22	128						22	128	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		6	11						6	11	---	---	---	---
