#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
KGFLP2	654466	broad.mit.edu	37	9	41962620	41962620	+	lincRNA	SNP	G	G	A	rs62539357	byFrequency	TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr9:41962620G>A	ENST00000454645.1	-	0	884					NR_003670.1																						TCCTCTTACAGGAATCCCCTT	0.363																																						ENST00000454645.1																			0																																																			0							g.chr9:41962620G>A																													9.37:g.41962620G>A								NR_003670.1						0	884	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.363	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			4	23	0	0	0	1	0	4	23				
TMEM257	9142	broad.mit.edu	37	X	144909459	144909459	+	Missense_Mutation	SNP	G	G	T	rs144670117		TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chrX:144909459G>T	ENST00000408967.2	+	1	532	c.264G>T	c.(262-264)atG>atT	p.M88I		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	88						integral component of membrane (GO:0016021)											ACAGCAAAATGGTTCCAGCCT	0.393																																						ENST00000408967.2																			0											c.(262-264)atG>atT		transmembrane protein 257		G	ILE/MET	0,3835		0,0,1632,571	65.0	60.0	62.0		264	-3.3	0.0	X	dbSNP_134	62	1,6727		0,1,2427,1872	no	missense	CXorf1	NM_004709.2	10	0,1,4059,2443	TT,TG,GG,G		0.0149,0.0,0.0095	benign	88/112	144909459	1,10562	2203	4300	6503	SO:0001583	missense	9142							g.chrX:144909459G>T	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"""chromosome X open reading frame 1"""	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.264G>T	X.37:g.144909459G>T	ENSP00000386149:p.Met88Ile						p.M88I	NM_004709.2	NP_004700.1					1	532	+								Q14CW0	Missense_Mutation	SNP	ENST00000408967.2	37	c.264G>T	CCDS14681.1	.	.	.	.	.	.	.	.	.	.	G	0.394	-0.922027	0.02396	0.0	1.49E-4	ENSG00000221870	ENST00000408967	T	0.48201	0.82	5.45	-3.34	0.04943	.	.	.	.	.	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.14980	-1.0453	9	0.87932	D	0	.	4.3606	0.11201	0.3099:0.0:0.2209:0.4692	.	88	O96002	CX001_HUMAN	I	88	ENSP00000386149:M88I	ENSP00000386149:M88I	M	+	3	0	CXorf1	144717151	0.006000	0.16342	0.000000	0.03702	0.037000	0.13140	-0.413000	0.07123	-0.898000	0.03906	-0.324000	0.08512	ATG		0.393	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		4	21	1	0	0.000602214	1	0.000635671	4	21				
MED12L	116931	broad.mit.edu	37	3	151107898	151107898	+	Silent	SNP	C	C	T			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr3:151107898C>T	ENST00000474524.1	+	36	5516	c.5478C>T	c.(5476-5478)ttC>ttT	p.F1826F	MED12L_ENST00000273432.4_Silent_p.F1686F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1826						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCTTTTTCCTTCAGAACC	0.493																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5476-5478)ttC>ttT		mediator complex subunit 12-like							142.0	155.0	151.0					3																	151107898		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151107898C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5478C>T	3.37:g.151107898C>T						MED12L_ENST00000273432.4_Silent_p.F1686F	p.F1826F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		36	5516	+			1826					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5478C>T	CCDS33876.1																																																																																				0.493	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		35	126	0	0	0	1	0	35	126				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	42	0	0	0	1	0	4	42				
AGTPBP1	23287	broad.mit.edu	37	9	88207522	88207522	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr9:88207522C>A	ENST00000357081.3	-	19	2665	c.2521G>T	c.(2521-2523)Gtt>Ttt	p.V841F	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V801F|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V853F|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	841					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAGTAGCAAACATCATCTTTA	0.313																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(2521-2523)Gtt>Ttt		ATP/GTP binding protein 1							136.0	139.0	138.0					9																	88207522		2203	4298	6501	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88207522C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2521G>T	9.37:g.88207522C>A	ENSP00000349592:p.Val841Phe					AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V801F|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V853F|AGTPBP1_ENST00000432218.1_Intron	p.V841F			Q9UPW5	CBPC1_HUMAN			19	2665	-			841					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.2521G>T		.	.	.	.	.	.	.	.	.	.	C	30	5.056215	0.93793	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.20598	2.07;2.07;2.06	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	M	0.84433	2.695	0.80722	D	1	P;D;D	0.89917	0.723;1.0;0.998	P;D;D	0.81914	0.524;0.995;0.964	T	0.58451	-0.7634	10	0.87932	D	0	-23.8121	20.1935	0.98237	0.0:1.0:0.0:0.0	.	853;841;801	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	F	841;801;853	ENSP00000349592:V841F;ENSP00000365251:V801F;ENSP00000365277:V853F	ENSP00000349592:V841F	V	-	1	0	AGTPBP1	87397342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GTT		0.313	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	52	1	0	1	1	1	4	52				
MED12L	116931	broad.mit.edu	37	3	151107899	151107899	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr3:151107899C>A	ENST00000474524.1	+	36	5517	c.5479C>A	c.(5479-5481)Ctt>Att	p.L1827I	MED12L_ENST00000273432.4_Missense_Mutation_p.L1687I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1827						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGGCTTTTTCCTTCAGAACCA	0.488																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5479-5481)Ctt>Att		mediator complex subunit 12-like							141.0	154.0	150.0					3																	151107899		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151107899C>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5479C>A	3.37:g.151107899C>A	ENSP00000417235:p.Leu1827Ile					MED12L_ENST00000273432.4_Missense_Mutation_p.L1687I	p.L1827I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		36	5517	+			1827					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5479C>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270863	0.23221	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59906	0.42;0.23	5.75	4.88	0.63580	Mediator complex, subunit Med12, catenin-binding (1);	0.329452	0.30575	N	0.009339	T	0.47710	0.1460	L	0.51422	1.61	0.27715	N	0.94532	B;B	0.24426	0.103;0.013	B;B	0.20955	0.022;0.032	T	0.38308	-0.9667	10	0.27082	T	0.32	-13.7863	8.739	0.34545	0.0:0.7248:0.1938:0.0814	.	1687;1827	F8WAE6;Q86YW9	.;MD12L_HUMAN	I	1827;1687	ENSP00000417235:L1827I;ENSP00000273432:L1687I	ENSP00000273432:L1687I	L	+	1	0	MED12L	152590589	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.871000	0.48459	1.433000	0.47394	-0.136000	0.14681	CTT		0.488	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		36	127	1	0	3.28013e-08	1	3.77712e-08	36	127				
BCHE	590	broad.mit.edu	37	3	165548145	165548145	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr3:165548145C>G	ENST00000264381.3	-	2	843	c.677G>C	c.(676-678)aGt>aCt	p.S226T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	226			S -> G (in BChE deficiency; enzymatically inactive in the plasma). {ECO:0000269|PubMed:8554068}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TGCTCCTGCACTTTCTCCAAA	0.428																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(676-678)aGt>aCt		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						84.0	88.0	87.0					3																	165548145		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548145C>G	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.677G>C	3.37:g.165548145C>G	ENSP00000264381:p.Ser226Thr					BCHE_ENST00000540653.1_Intron	p.S226T	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	843	-			226		S -> G (in BChE deficiency; enzymatically inactive in the plasma).			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.677G>C	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105764	0.77096	.	.	ENSG00000114200	ENST00000264381	D	0.99722	-6.53	5.71	5.71	0.89125	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.99682	4.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96227	0.9165	10	0.87932	D	0	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	226	P06276	CHLE_HUMAN	T	226	ENSP00000264381:S226T	ENSP00000264381:S226T	S	-	2	0	BCHE	167030839	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.921000	0.70028	2.699000	0.92147	0.655000	0.94253	AGT		0.428	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			14	28	0	0	0	1	0	14	28				
ZC3H13	23091	broad.mit.edu	37	13	46549612	46549612	+	Silent	SNP	C	C	T			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr13:46549612C>T	ENST00000242848.4	-	12	2622	c.2274G>A	c.(2272-2274)agG>agA	p.R758R	ZC3H13_ENST00000282007.3_Silent_p.R758R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	758	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R758fs*104(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		gctctctctccctctctctct	0.532																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Deletion - Frameshift(1)	p.R758fs*104(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2272-2274)agG>agA		zinc finger CCCH-type containing 13							220.0	171.0	188.0					13																	46549612		2203	4299	6502	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46549612C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2274G>A	13.37:g.46549612C>T						ZC3H13_ENST00000282007.3_Silent_p.R758R	p.R758R			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2622	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	758			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.2274G>A																																																																																					0.532	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		4	29	0	0	0	1	0	4	29				
DGCR14	8220	broad.mit.edu	37	22	19132143	19132143	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr22:19132143G>A	ENST00000252137.6	-	1	54	c.11C>T	c.(10-12)cCg>cTg	p.P4L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	4					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGATGCGCCCGGCGTCTCCAT	0.692																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(10-12)cCg>cTg		DiGeorge syndrome critical region gene 14							9.0	10.0	10.0					22																	19132143		2190	4273	6463	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19132143G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.11C>T	22.37:g.19132143G>A	ENSP00000252137:p.Pro4Leu						p.P4L	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			1	54	-	Colorectal(54;0.0993)		4					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.11C>T	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613773	0.66672	.	.	ENSG00000100056	ENST00000252137	T	0.27720	1.65	3.73	3.73	0.42828	.	0.338063	0.27754	N	0.018000	T	0.15522	0.0374	N	0.08118	0	0.33484	D	0.587802	D	0.64830	0.994	B	0.38921	0.285	T	0.24119	-1.0169	10	0.49607	T	0.09	-14.0094	14.5517	0.68070	0.0:0.0:1.0:0.0	.	4	Q96DF8	DGC14_HUMAN	L	4	ENSP00000252137:P4L	ENSP00000252137:P4L	P	-	2	0	DGCR14	17512143	0.806000	0.28996	0.092000	0.20876	0.006000	0.05464	2.499000	0.45372	2.389000	0.81357	0.563000	0.77884	CCG		0.692	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			8	6	0	0	0	1	0	8	6				
FRMPD1	22844	broad.mit.edu	37	9	37740357	37740357	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr9:37740357C>T	ENST00000539465.1	+	15	2425	c.1832C>T	c.(1831-1833)gCt>gTt	p.A611V	FRMPD1_ENST00000536622.1_Missense_Mutation_p.A433V|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A480V|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A611V|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	611						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCATGGACGCTCTGGAAGAG	0.612																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1831-1833)gCt>gTt		FERM and PDZ domain containing 1							35.0	34.0	34.0					9																	37740357		2201	4298	6499	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740357C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1832C>T	9.37:g.37740357C>T	ENSP00000444411:p.Ala611Val					FRMPD1_ENST00000377765.3_Missense_Mutation_p.A611V|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A433V|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A480V	p.A611V			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2425	+			611					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1832C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495542	0.85069	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.35048	2.13;2.13;1.33;1.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.61540	-0.7042	10	0.72032	D	0.01	-16.8984	17.1242	0.86710	0.0:1.0:0.0:0.0	.	480;611	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	V	611;611;433;480	ENSP00000366995:A611V;ENSP00000444411:A611V;ENSP00000437762:A433V;ENSP00000444804:A480V	ENSP00000366995:A611V	A	+	2	0	FRMPD1	37730357	1.000000	0.71417	0.990000	0.47175	0.455000	0.32408	5.368000	0.66133	2.648000	0.89879	0.561000	0.74099	GCT		0.612	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		9	26	0	0	0	1	0	9	26				
AMPD2	271	broad.mit.edu	37	1	110170707	110170707	+	Silent	SNP	G	G	T			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr1:110170707G>T	ENST00000256578.3	+	10	1605	c.1245G>T	c.(1243-1245)gtG>gtT	p.V415V	AMPD2_ENST00000528454.1_Silent_p.V297V|AMPD2_ENST00000358729.4_Silent_p.V340V|AMPD2_ENST00000342115.4_Silent_p.V334V|AMPD2_ENST00000528667.1_Silent_p.V415V|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Silent_p.V296V|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	415					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATTCCAGGTGGACACCCACA	0.597																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1243-1245)gtG>gtT		adenosine monophosphate deaminase 2							61.0	56.0	58.0					1																	110170707		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170707G>T	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1245G>T	1.37:g.110170707G>T						AMPD2_ENST00000342115.4_Silent_p.V334V|AMPD2_ENST00000528667.1_Silent_p.V415V|AMPD2_ENST00000393688.3_Silent_p.V296V|AMPD2_ENST00000358729.4_Silent_p.V340V|AMPD2_ENST00000528454.1_Silent_p.V297V|AMPD2_ENST00000526301.1_3'UTR	p.V415V	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1605	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	415					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.1245G>T	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670446	0.47781	.	.	ENSG00000116337	ENST00000369840	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-38.7315	17.3138	0.87217	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	.	G	+	1	0	AMPD2	109972230	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.396000	0.66297	2.634000	0.89283	0.561000	0.74099	GGA		0.597	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			3	33	1	0	0.115264	1	0.118379	3	33				
RFTN1	23180	broad.mit.edu	37	3	16368297	16368297	+	Silent	SNP	G	G	A	rs139132308		TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr3:16368297G>A	ENST00000334133.4	-	8	1505	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P	OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000432519.1_Silent_p.P375P	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	411					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCTTGACGACGGGAGTTGGTA	0.512																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1231-1233)ccC>ccT		raftlin, lipid raft linker 1		G		0,4406		0,0,2203	61.0	53.0	56.0		1233	-10.1	0.0	3	dbSNP_134	56	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	RFTN1	NM_015150.1		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		411/579	16368297	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16368297G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1233C>T	3.37:g.16368297G>A						RFTN1_ENST00000432519.1_Silent_p.P375P|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000435829.2_Intron	p.P411P	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			8	1505	-			411					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.1233C>T	CCDS33712.1																																																																																				0.512	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		3	29	0	0	0	1	0	3	29				
SETD7	80854	broad.mit.edu	37	4	140454300	140454300	+	Intron	SNP	G	G	C	rs145857649	byFrequency	TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr4:140454300G>C	ENST00000274031.3	-	3	1009				SETD7_ENST00000404104.3_Missense_Mutation_p.H131D|SETD7_ENST00000406354.1_3'UTR|SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7						chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCAGCAGAGTGAACAGTCACA	0.428																																						ENST00000404104.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(391-393)Cac>Gac		SET domain containing (lysine methyltransferase) 7							132.0	112.0	119.0					4																	140454300		2203	4300	6503	SO:0001627	intron_variant	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140454300G>C	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.372+18C>G	4.37:g.140454300G>C						SETD7_ENST00000406354.1_3'UTR|SETD7_ENST00000506866.2_Intron|SETD7_ENST00000274031.3_Intron	p.H131D			Q8WTS6	SETD7_HUMAN			3	1022	-	all_hematologic(180;0.156)		0					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.391C>G	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497388	0.44455	.	.	ENSG00000145391	ENST00000404104	T	0.39229	1.09	4.84	1.77	0.24775	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.09310	N	0.999997	B	0.12013	0.005	B	0.10450	0.005	T	0.25606	-1.0127	8	0.62326	D	0.03	.	4.4008	0.11385	0.0809:0.1142:0.4699:0.3351	.	131	B5MCZ8	.	D	131	ENSP00000385913:H131D	ENSP00000385913:H131D	H	-	1	0	SETD7	140673750	0.000000	0.05858	0.001000	0.08648	0.808000	0.45660	0.102000	0.15272	0.582000	0.29556	0.655000	0.94253	CAC		0.428	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		11	21	0	0	0	1	0	11	21				
OR6C75	390323	broad.mit.edu	37	12	55759273	55759273	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr12:55759273C>A	ENST00000343399.3	+	1	379	c.379C>A	c.(379-381)Cct>Act	p.P127T		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CATCTGCAAACCTCTTCATTA	0.468																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(379-381)Cct>Act		olfactory receptor, family 6, subfamily C, member 75							159.0	137.0	145.0					12																	55759273		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759273C>A		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.379C>A	12.37:g.55759273C>A	ENSP00000368987:p.Pro127Thr						p.P127T	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	379	+			127						Missense_Mutation	SNP	ENST00000343399.3	37	c.379C>A	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.059157	0.76074	.	.	ENSG00000187857	ENST00000343399	T	0.01887	4.58	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000435	T	0.28366	0.0701	H	0.99182	4.46	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	T	0.56511	-0.7967	10	0.87932	D	0	.	18.6325	0.91364	0.0:1.0:0.0:0.0	.	127	A6NL08	O6C75_HUMAN	T	127	ENSP00000368987:P127T	ENSP00000368987:P127T	P	+	1	0	OR6C75	54045540	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	5.485000	0.66850	2.729000	0.93468	0.637000	0.83480	CCT		0.468	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			11	21	1	0	7.03913e-09	1	8.35896e-09	11	21				
TIAM2	26230	broad.mit.edu	37	6	155569295	155569295	+	Missense_Mutation	SNP	G	G	A	rs370206661		TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr6:155569295G>A	ENST00000461783.3	+	22	5087	c.3814G>A	c.(3814-3816)Gag>Aag	p.E1272K	TIAM2_ENST00000529824.2_Missense_Mutation_p.E1272K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1272K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E648K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E608K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1296K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E197K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E584K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1272K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1272	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAGAGCGAGGAGCACTACCA	0.687											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3814-3816)Gag>Aag		T-cell lymphoma invasion and metastasis 2		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	38.0	33.0	35.0		589,3814	5.6	1.0	6		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TIAM2	NM_001010927.2,NM_012454.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	197/627,1272/1702	155569295	1,13005	2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155569295G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3814G>A	6.37:g.155569295G>A	ENSP00000437188:p.Glu1272Lys		OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000528391.2_Missense_Mutation_p.E608K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1296K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E648K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1272K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1272K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E197K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E584K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1272K	p.E1272K			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5087	+		Ovarian(120;0.196)	1272			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3814G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924030	0.92319	0.0	1.16E-4	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.995	D	0.83779	0.0224	10	0.54805	T	0.06	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	608;1272;1296;1272	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	K	1272;1518;1272;1272;1272;648;1296;1272;584;608;197	ENSP00000437188:E1272K;ENSP00000434901:E1272K;ENSP00000407746:E1272K;ENSP00000327315:E1272K;ENSP00000356142:E648K;ENSP00000353528:E1296K;ENSP00000433348:E1272K;ENSP00000407183:E584K;ENSP00000435335:E608K;ENSP00000275246:E197K	ENSP00000275246:E197K	E	+	1	0	TIAM2	155610987	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	9.869000	0.99810	2.657000	0.90304	0.655000	0.94253	GAG		0.687	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		4	33	0	0	0	1	0	4	33				
SUOX	6821	broad.mit.edu	37	12	56397430	56397430	+	Missense_Mutation	SNP	C	C	T	rs546138860	byFrequency	TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr12:56397430C>T	ENST00000394109.3	+	3	981	c.257C>T	c.(256-258)aCt>aTt	p.T86I	SUOX_ENST00000394115.2_Missense_Mutation_p.T86I|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.T86I|SUOX_ENST00000551841.2_Missense_Mutation_p.T86I|SUOX_ENST00000548274.1_Missense_Mutation_p.T86I|SUOX_ENST00000266971.3_Missense_Mutation_p.T86I			P51687	SUOX_HUMAN	sulfite oxidase	86	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACATATACACTAAGGAGGAA	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		19987	0.003		0.0	False		,,,				2504	0.0					ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(256-258)aCt>aTt		sulfite oxidase							77.0	76.0	77.0					12																	56397430		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397430C>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.257C>T	12.37:g.56397430C>T	ENSP00000377668:p.Thr86Ile					SUOX_ENST00000394115.2_Missense_Mutation_p.T86I|SUOX_ENST00000548274.1_Missense_Mutation_p.T86I|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000551841.2_Missense_Mutation_p.T86I|SUOX_ENST00000266971.3_Missense_Mutation_p.T86I|SUOX_ENST00000356124.4_Missense_Mutation_p.T86I	p.T86I			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	981	+			86			Cytochrome b5 heme-binding.			Missense_Mutation	SNP	ENST00000394109.3	37	c.257C>T	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760018	0.49468	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000552258;ENST00000548274;ENST00000546833;ENST00000551841;ENST00000394109	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.91	4.91	0.64330	Cytochrome b5 (4);	0.352176	0.27076	N	0.021059	D	0.93171	0.7825	H	0.97491	4.015	0.36356	D	0.860408	P	0.35807	0.522	P	0.52881	0.712	D	0.95788	0.8822	10	0.66056	D	0.02	-7.9929	13.1717	0.59602	0.0:0.8391:0.1609:0.0	.	86	P51687	SUOX_HUMAN	I	86	ENSP00000348440:T86I;ENSP00000266971:T86I;ENSP00000377674:T86I;ENSP00000450049:T86I;ENSP00000450245:T86I;ENSP00000449872:T86I;ENSP00000377668:T86I	ENSP00000266971:T86I	T	+	2	0	SUOX	54683697	0.988000	0.35896	0.496000	0.27539	0.769000	0.43574	2.790000	0.47821	2.730000	0.93505	0.591000	0.81541	ACT		0.488	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		13	41	0	0	0	1	0	13	41				
PKHD1	5314	broad.mit.edu	37	6	51640611	51640611	+	Missense_Mutation	SNP	G	G	T			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr6:51640611G>T	ENST00000371117.3	-	54	8824	c.8549C>A	c.(8548-8550)aCa>aAa	p.T2850K	PKHD1_ENST00000340994.4_Missense_Mutation_p.T2850K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2850	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTACCAATTGTTCCTGGGTC	0.338																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8548-8550)aCa>aAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							58.0	59.0	58.0					6																	51640611		2203	4298	6501	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51640611G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8549C>A	6.37:g.51640611G>T	ENSP00000360158:p.Thr2850Lys					PKHD1_ENST00000340994.4_Missense_Mutation_p.T2850K	p.T2850K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			54	8824	-	Lung NSC(77;0.0605)		2850			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8549C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380670	0.61845	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89343	-2.5;-2.5	5.63	4.73	0.59995	G8 domain (2);	0.306562	0.32578	N	0.005904	D	0.87708	0.6245	M	0.62723	1.935	0.31807	N	0.627626	D;D;P	0.64830	0.994;0.96;0.786	P;P;P	0.60236	0.871;0.648;0.484	D	0.86424	0.1756	10	0.59425	D	0.04	.	7.2401	0.26092	0.0986:0.1834:0.718:0.0	.	2850;2850;2850	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	K	2850	ENSP00000360158:T2850K;ENSP00000341097:T2850K	ENSP00000341097:T2850K	T	-	2	0	PKHD1	51748570	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	1.453000	0.35167	1.307000	0.44944	0.313000	0.20887	ACA		0.338	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		12	26	1	0	2.27111e-07	1	2.5383e-07	12	26				
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			1	Deletion - In frame(1)	p.E716delE(1)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gct>g		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_ENST00000543945.1_3'UTR	p.EA716del	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2341_2343	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	59						9	59	---	---	---	---
RPL21P106	643264	broad.mit.edu	37	12	92562207	92562207	+	RNA	DEL	C	C	-			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr12:92562207delC	ENST00000499685.2	+	0	164				Y_RNA_ENST00000363025.1_RNA|RP11-796E2.4_ENST00000501008.2_RNA																							ATGAGAGGCACCCCATATGTG	0.383																																						ENST00000499685.2																			0																																																			0							g.chr12:92562207delC																													12.37:g.92562207delC														0	164	+									RNA	DEL	ENST00000499685.2	37																																																																																						0.383	RP11-796E2.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000407232.1			2	4						2	4	---	---	---	---
IGHV3-9	28451	broad.mit.edu	37	14	106552636	106552637	+	RNA	INS	-	-	CACTGTTTCTCT	rs367895117|rs587709850	byFrequency	TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr14:106552636_106552637insCACTGTTTCTCT	ENST00000390600.2	-	0	126									immunoglobulin heavy variable 3-9																		CCACACAAATCCACTCATGTCC	0.49																																						ENST00000390600.2																			0																																																			0							g.chr14:106552636_106552637insCACTGTTTCTCT	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552636_106552637insCACTGTTTCTCT														0	126	-									RNA	INS	ENST00000390600.2	37																																																																																						0.490	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		3	3						3	3	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5076261	5076262	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr17:5076261_5076262delTA	ENST00000574788.1	+	38	6439_6440	c.4209_4210delTA	c.(4207-4212)tctatgfs	p.M1404fs	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Frame_Shift_Del_p.M1087fs|USP6_ENST00000250066.6_Frame_Shift_Del_p.M1404fs			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1404					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAAGTACTCTATGTTACAGTA	0.45			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(4207-4212)tctgfs		ubiquitin specific peptidase 6 (Tre-2 oncogene)																																				SO:0001589	frameshift_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5076261_5076262delTA	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4209_4210delTA	17.37:g.5076261_5076262delTA	ENSP00000460380:p.Met1404fs					USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Frame_Shift_Del_p.SM1086fs|USP6_ENST00000250066.6_Frame_Shift_Del_p.SM1403fs	p.SM1403fs			P35125	UBP6_HUMAN			38	6439_6440	+			1403					Q15634|Q86WP6|Q8IWT4	Frame_Shift_Del	DEL	ENST00000574788.1	37	c.4209_4210delTA	CCDS11069.2																																																																																				0.450	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		12	29						12	29	---	---	---	---
