#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
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			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.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	110	1	0	0.150653	1	0.150653	4	110				
ALAS2	212	broad.mit.edu	37	X	55052378	55052378	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:55052378G>A	ENST00000330807.5	-	2	193	c.56C>T	c.(55-57)aCa>aTa	p.T19I	ALAS2_ENST00000396198.3_Missense_Mutation_p.T43I|ALAS2_ENST00000335854.4_Missense_Mutation_p.T19I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	19					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGAGGCTTGTGGGGCCCCG	0.542																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(55-57)aCa>aTa		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						89.0	67.0	75.0					X																	55052378		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55052378G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.56C>T	X.37:g.55052378G>A	ENSP00000332369:p.Thr19Ile					ALAS2_ENST00000335854.4_Missense_Mutation_p.T19I|ALAS2_ENST00000396198.3_Missense_Mutation_p.T43I	p.T19I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			2	193	-			19					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.56C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289775	0.23478	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.96992	-4.12;-4.19;-4.2	4.39	3.49	0.39957	5-aminolevulinate synthase presequence (1);	0.433992	0.26642	N	0.023260	D	0.91432	0.7296	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.004;0.004;0.005	T	0.83291	-0.0033	10	0.42905	T	0.14	-0.7705	7.4006	0.26962	0.1394:0.0:0.8605:0.0	.	19;43;19	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	I	19;43;19	ENSP00000332369:T19I;ENSP00000379501:T43I;ENSP00000337131:T19I	ENSP00000332369:T19I	T	-	2	0	ALAS2	55069103	0.863000	0.29885	0.008000	0.14137	0.817000	0.46193	1.068000	0.30629	0.885000	0.36088	0.523000	0.50628	ACA		0.542	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		14	62	0	0	0	1	0	14	62				
FAM180A	389558	broad.mit.edu	37	7	135418932	135418932	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:135418932G>A	ENST00000338588.3	-	3	578	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R105C|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	105						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTGAGCCGGCGGATGTCTGGG	0.602																																						ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(313-315)Cgc>Tgc		family with sequence similarity 180, member A							124.0	112.0	116.0					7																	135418932		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418932G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.313C>T	7.37:g.135418932G>A	ENSP00000342336:p.Arg105Cys					FAM180A_ENST00000415751.1_Missense_Mutation_p.R105C	p.R105C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	578	-			105					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.313C>T	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690137	0.88735	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.34859	1.34;1.34	5.35	5.35	0.76521	.	0.053480	0.85682	D	0.000000	T	0.59985	0.2234	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.63060	-0.6721	10	0.72032	D	0.01	-22.3527	16.5598	0.84537	0.0:0.0:1.0:0.0	.	105	Q6UWF9	F180A_HUMAN	C	105	ENSP00000342336:R105C;ENSP00000395467:R105C	ENSP00000342336:R105C	R	-	1	0	FAM180A	135069472	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.471000	0.60182	2.520000	0.84964	0.491000	0.48974	CGC		0.602	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		12	195	0	0	0	1	0	12	195				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	51	0	0	0	1	0	5	51				
EFHC2	80258	broad.mit.edu	37	X	44120532	44120532	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:44120532C>T	ENST00000420999.1	-	4	478	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	132	DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CCGATGACGCCGGATAGAAGT	0.413													C|||	1	0.000264901	0.0	0.0	3775	,	,		14401	0.0		0.0	False		,,,				2504	0.001					ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(394-396)cGg>cAg		EF-hand domain (C-terminal) containing 2							51.0	44.0	46.0					X																	44120532		1853	4089	5942	SO:0001583	missense	80258						calcium ion binding	g.chrX:44120532C>T	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.395G>A	X.37:g.44120532C>T	ENSP00000404232:p.Arg132Gln						p.R132Q	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			4	478	-			132			DM10 1.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.395G>A	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269498	0.59540	.	.	ENSG00000183690	ENST00000333807;ENST00000420999	T;T	0.50277	0.75;0.75	5.83	4.08	0.47627	Uncharacterised domain DM10 (2);	0.156078	0.43110	D	0.000601	T	0.45696	0.1355	M	0.75884	2.315	0.52501	D	0.999959	D	0.60160	0.987	B	0.38655	0.278	T	0.50964	-0.8765	10	0.59425	D	0.04	-1.599	12.0488	0.53495	0.0:0.857:0.0:0.143	.	132	Q5JST6	EFHC2_HUMAN	Q	132;160	ENSP00000333823:R132Q;ENSP00000404232:R160Q	ENSP00000333823:R132Q	R	-	2	0	EFHC2	44005476	0.945000	0.32115	0.989000	0.46669	0.923000	0.55619	2.016000	0.40971	0.613000	0.30089	-0.190000	0.12839	CGG		0.413	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		23	31	0	0	0	1	0	23	31				
ATRX	546	broad.mit.edu	37	X	76939961	76939961	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:76939961A>G	ENST00000373344.5	-	9	1001	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.W225R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAGCAATACCATTGGTTGTTT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CM005475	ATRX	M		c.(787-789)Tgg>Cgg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						158.0	146.0	150.0					X																	76939961		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939961A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.787T>C	X.37:g.76939961A>G	ENSP00000362441:p.Trp263Arg					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.W225R	p.W263R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1001	-			263			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.787T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924716	0.34002	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.99563	-6.17;-6.17	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.999	D	0.97871	1.0286	10	0.87932	D	0	-4.0559	14.6389	0.68708	1.0:0.0:0.0:0.0	.	263;224;225;263	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	R	263;225;219	ENSP00000362441:W263R;ENSP00000378967:W225R	ENSP00000362441:W263R	W	-	1	0	ATRX	76826617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.838000	0.53458	0.417000	0.27973	TGG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		111	98	0	0	0	1	0	111	98				
EIF3B	8662	broad.mit.edu	37	7	2414229	2414229	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:2414229C>T	ENST00000360876.4	+	13	1933	c.1877C>T	c.(1876-1878)gCg>gTg	p.A626V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A626V	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGGTGTTGGCGGGCCTGAGG	0.627																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1876-1878)gCg>gTg		eukaryotic translation initiation factor 3, subunit B							118.0	113.0	114.0					7																	2414229		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2414229C>T	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1877C>T	7.37:g.2414229C>T	ENSP00000354125:p.Ala626Val					EIF3B_ENST00000397011.2_Missense_Mutation_p.A626V	p.A626V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	13	1933	+		Ovarian(82;0.0253)	626						Missense_Mutation	SNP	ENST00000360876.4	37	c.1877C>T	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734161	0.69189	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.04706	3.57;3.57	5.34	5.34	0.76211	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	M	0.73217	2.22	0.80722	D	1	D	0.56287	0.975	P	0.50082	0.63	T	0.00366	-1.1786	10	0.59425	D	0.04	-26.1623	19.0387	0.92989	0.0:1.0:0.0:0.0	.	626	P55884	EIF3B_HUMAN	V	626;626;626;550	ENSP00000354125:A626V;ENSP00000380206:A626V	ENSP00000316638:A626V	A	+	2	0	EIF3B	2380755	1.000000	0.71417	0.224000	0.23877	0.034000	0.12701	7.673000	0.83973	2.500000	0.84329	0.655000	0.94253	GCG		0.627	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			4	134	0	0	0	1	0	4	134				
UBQLN2	29978	broad.mit.edu	37	X	56590705	56590705	+	Silent	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:56590705C>T	ENST00000338222.5	+	1	680	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	133					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGAGTAACTCCACACCTATTT	0.572																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(397-399)tcC>tcT		ubiquilin 2							39.0	36.0	37.0					X																	56590705		2203	4300	6503	SO:0001819	synonymous_variant	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590705C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.399C>T	X.37:g.56590705C>T							p.S133S	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	680	+			133					O94798|Q5D027|Q9H3W6|Q9HAZ4	Silent	SNP	ENST00000338222.5	37	c.399C>T	CCDS14374.1																																																																																				0.572	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		7	56	0	0	0	1	0	7	56				
DCAF12L2	340578	broad.mit.edu	37	X	125299672	125299672	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:125299672G>A	ENST00000360028.2	-	1	262	c.236C>T	c.(235-237)gCc>gTc	p.A79V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A79V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	79										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTCTGGACGGCGTAGCCCCG	0.706																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(235-237)gCc>gTc		DDB1 and CUL4 associated factor 12-like 2							24.0	26.0	25.0					X																	125299672		2191	4270	6461	SO:0001583	missense	340578							g.chrX:125299672G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.236C>T	X.37:g.125299672G>A	ENSP00000353128:p.Ala79Val					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A79V	p.A79V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	316	-			79					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.236C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	13.65	2.299571	0.40694	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35789	1.29;1.29	3.28	1.42	0.22433	.	.	.	.	.	T	0.28830	0.0715	L	0.52126	1.63	0.29168	N	0.877348	B	0.15930	0.015	B	0.12837	0.008	T	0.22695	-1.0209	9	0.40728	T	0.16	.	5.4703	0.16666	0.1309:0.2112:0.6579:0.0	.	79	Q5VW00	DC122_HUMAN	V	79	ENSP00000441489:A79V;ENSP00000353128:A79V	ENSP00000353128:A79V	A	-	2	0	DCAF12L2	125127353	1.000000	0.71417	0.074000	0.20217	0.066000	0.16364	6.692000	0.74578	0.236000	0.21180	0.287000	0.19450	GCC		0.706	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		27	56	0	0	0	1	0	27	56				
FANCM	57697	broad.mit.edu	37	14	45645153	45645153	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:45645153C>G	ENST00000267430.5	+	14	3281	c.3196C>G	c.(3196-3198)Ctt>Gtt	p.L1066V	FANCM_ENST00000542564.2_Missense_Mutation_p.L1040V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1066					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAAAGTTGCCTTTATGATAT	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(3196-3198)Ctt>Gtt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							25.0	26.0	25.0					14																	45645153		2203	4297	6500	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645153C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3196C>G	14.37:g.45645153C>G	ENSP00000267430:p.Leu1066Val					FANCM_ENST00000542564.2_Missense_Mutation_p.L1040V	p.L1066V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	3281	+			1066					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.3196C>G	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	1.438	-0.568412	0.03910	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.20598	2.66;2.66;2.06	5.23	-1.43	0.08884	.	1.554990	0.03059	N	0.155659	T	0.17280	0.0415	L	0.46157	1.445	0.09310	N	1	B;B	0.31193	0.018;0.312	B;B	0.28553	0.025;0.091	T	0.17379	-1.0371	10	0.38643	T	0.18	.	3.2335	0.06756	0.2935:0.3507:0.0:0.3557	.	1040;1066	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	V	1066;1040;582	ENSP00000267430:L1066V;ENSP00000442493:L1040V;ENSP00000452033:L582V	ENSP00000267430:L1066V	L	+	1	0	FANCM	44714903	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.492000	0.06467	-0.241000	0.09681	-0.216000	0.12614	CTT		0.303	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		4	31	0	0	0	1	0	4	31				
SLC22A15	55356	broad.mit.edu	37	1	116577849	116577849	+	Missense_Mutation	SNP	C	C	T	rs201564754		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:116577849C>T	ENST00000369503.4	+	7	1116	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	329					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACTCTGAGTGCGGGTGATCTA	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0					ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(985-987)gCg>gTg		solute carrier family 22, member 15							190.0	180.0	183.0					1																	116577849		1941	4155	6096	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116577849C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.986C>T	1.37:g.116577849C>T	ENSP00000358515:p.Ala329Val					SLC22A15_ENST00000481127.1_3'UTR	p.A329V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	7	1116	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	329					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.986C>T	CCDS44198.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.02	3.529828	0.64860	.	.	ENSG00000163393	ENST00000369503	T	0.59083	0.29	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.109676	0.64402	D	0.000009	T	0.21267	0.0512	N	0.25890	0.77	0.80722	D	1	B	0.16166	0.016	B	0.21360	0.034	T	0.07158	-1.0787	10	0.02654	T	1	.	10.9622	0.47391	0.0:0.8876:0.0:0.1124	.	329	Q8IZD6	S22AF_HUMAN	V	329	ENSP00000358515:A329V	ENSP00000358515:A329V	A	+	2	0	SLC22A15	116379372	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	2.889000	0.48601	2.722000	0.93159	0.650000	0.86243	GCG		0.453	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		4	78	0	0	0	1	0	4	78				
GRIP2	80852	broad.mit.edu	37	3	14535207	14535207	+	RNA	SNP	C	C	T	rs181971811		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr3:14535207C>T	ENST00000273083.3	-	0	3162							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCCTGGCGATCGGGGGGCCCG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16370	0.0		0.001	False		,,,				2504	0.0					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							15.0	20.0	18.0					3																	14535207		1983	4132	6115			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14535207C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14535207C>T										Q9C0E4	GRIP2_HUMAN			0	3162	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.672	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		9	9	0	0	0	1	0	9	9				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	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			18	40	0	0	0	1	0	18	40				
SPANXD	64648	broad.mit.edu	37	X	140785839	140785839	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:140785839G>A	ENST00000370515.3	-	2	410	c.77C>T	c.(76-78)cCg>cTg	p.P26L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	26						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CGAGGTCTCCGGCATCTGTTA	0.493																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(76-78)cCg>cTg		SPANX family, member D							142.0	103.0	116.0					X																	140785839		2199	4262	6461	SO:0001583	missense	64648							g.chrX:140785839G>A	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.77C>T	X.37:g.140785839G>A	ENSP00000359546:p.Pro26Leu						p.P26L	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	410	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.77C>T	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	8.777	0.927218	0.18056	.	.	ENSG00000196406	ENST00000370515	T	0.07800	3.16	.	.	.	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10730	-1.0617	6	0.41790	T	0.15	.	.	.	.	.	26	Q9BXN6	SPNXD_HUMAN	L	26	ENSP00000359546:P26L	ENSP00000359546:P26L	P	-	2	0	SPANXD	140613505	0.003000	0.15002	0.022000	0.16811	0.053000	0.15095	-1.963000	0.01513	-0.559000	0.06110	0.068000	0.15388	CCG		0.493	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			7	165	0	0	0	1	0	7	165				
ASPM	259266	broad.mit.edu	37	1	197060134	197060134	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:197060134A>G	ENST00000367409.4	-	23	9738	c.9482T>C	c.(9481-9483)aTt>aCt	p.I3161T	ASPM_ENST00000294732.7_Missense_Mutation_p.I1576T|ASPM_ENST00000367408.1_Missense_Mutation_p.I826T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3161					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATATTTCTGAATAAATCTCTT	0.328																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9481-9483)aTt>aCt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							87.0	86.0	87.0					1																	197060134		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060134A>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9482T>C	1.37:g.197060134A>G	ENSP00000356379:p.Ile3161Thr					ASPM_ENST00000367408.1_Missense_Mutation_p.I826T|ASPM_ENST00000294732.7_Missense_Mutation_p.I1576T	p.I3161T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			23	9738	-			3161					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9482T>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959889	0.34565	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.71341	-0.56;-0.56;1.36	4.8	1.01	0.19927	.	0.903593	0.09291	N	0.822357	T	0.66096	0.2755	L	0.38175	1.15	0.09310	N	1	B;B;P	0.51933	0.411;0.148;0.949	B;B;P	0.54759	0.196;0.018;0.76	T	0.53107	-0.8485	10	0.15499	T	0.54	.	5.2326	0.15430	0.5303:0.0:0.0749:0.3948	.	1147;1576;3161	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	T	3161;1576;826;1147	ENSP00000356379:I3161T;ENSP00000294732:I1576T;ENSP00000356378:I826T	ENSP00000294732:I1576T	I	-	2	0	ASPM	195326757	0.017000	0.18338	0.001000	0.08648	0.401000	0.30781	0.480000	0.22244	-0.022000	0.13986	0.402000	0.26972	ATT		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		3	37	0	0	0	1	0	3	37				
PLXNB3	5365	broad.mit.edu	37	X	153039467	153039467	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:153039467C>A	ENST00000361971.5	+	20	3547	c.3433C>A	c.(3433-3435)Cag>Aag	p.Q1145K	SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q798K|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q1168K|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q755K	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1145	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGTACCAGCCCAACCC	0.672																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3502-3504)Cag>Aag		plexin B3							27.0	28.0	28.0					X																	153039467		2195	4285	6480	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039467C>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3433C>A	X.37:g.153039467C>A	ENSP00000355378:p.Gln1145Lys					PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q1145K|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q755K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q798K	p.Q1168K	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			21	3773	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1145			IPT/TIG 4.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3502C>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799376	0.50208	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.28	2.37	0.29283	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.692072	0.14902	N	0.291774	T	0.45196	0.1330	L	0.46157	1.445	0.25048	N	0.991158	B;B;B	0.21688	0.019;0.059;0.019	B;B;B	0.22386	0.017;0.039;0.017	T	0.36792	-0.9733	10	0.41790	T	0.15	.	3.9861	0.09516	0.1642:0.5874:0.1564:0.0919	.	798;1168;1145	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	K	1168;1145;798;755	ENSP00000442736:Q1168K;ENSP00000355378:Q1145K;ENSP00000445569:Q798K;ENSP00000441919:Q755K	ENSP00000355378:Q1145K	Q	+	1	0	PLXNB3	152692661	0.998000	0.40836	0.997000	0.53966	0.972000	0.66771	0.944000	0.29043	0.437000	0.26423	0.529000	0.55759	CAG		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			29	64	1	0	9.39395e-14	1	9.67024e-14	29	64				
TP53	7157	broad.mit.edu	37	17	7577586	7577586	+	Missense_Mutation	SNP	A	A	C	rs587781589		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:7577586A>C	ENST00000269305.4	-	7	884	c.695T>G	c.(694-696)aTc>aGc	p.I232S	TP53_ENST00000420246.2_Missense_Mutation_p.I232S|TP53_ENST00000445888.2_Missense_Mutation_p.I232S|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.I232S|TP53_ENST00000359597.4_Missense_Mutation_p.I232S|TP53_ENST00000455263.2_Missense_Mutation_p.I232S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	232	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGTAGTGGATGGTGGTACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		46	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(5)|Insertion - In frame(4)|Insertion - Frameshift(1)	p.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(1)	biliary_tract(5)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|endometrium(4)|breast(4)|NS(4)|bone(4)|lung(3)|oesophagus(3)|liver(3)|stomach(2)|central_nervous_system(2)|ovary(2)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(694-696)aTc>aGc	Other conserved DNA damage response genes	tumor protein p53							113.0	90.0	98.0					17																	7577586		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577586A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.695T>G	17.37:g.7577586A>C	ENSP00000269305:p.Ile232Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.I232S|TP53_ENST00000455263.2_Missense_Mutation_p.I232S|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.I232S|TP53_ENST00000269305.4_Missense_Mutation_p.I232S|TP53_ENST00000359597.4_Missense_Mutation_p.I232S	p.I232S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	827	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	232		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.695T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387397	0.82902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99811	-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.174276	0.51477	D	0.000096	D	0.99711	0.9889	M	0.85630	2.765	0.54753	D	0.999989	D;P;P;D;D;D	0.60160	0.976;0.805;0.937;0.98;0.98;0.987	D;P;P;D;D;P	0.72338	0.943;0.575;0.824;0.977;0.966;0.78	D	0.97280	0.9917	10	0.87932	D	0	-25.5076	12.3101	0.54924	1.0:0.0:0.0:0.0	.	232;232;139;232;232;232	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	232;232;232;232;232;232;221;139;100;139	ENSP00000410739:I232S;ENSP00000352610:I232S;ENSP00000269305:I232S;ENSP00000398846:I232S;ENSP00000391127:I232S;ENSP00000391478:I232S;ENSP00000425104:I100S;ENSP00000423862:I139S	ENSP00000269305:I232S	I	-	2	0	TP53	7518311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.061000	0.93913	2.074000	0.62210	0.379000	0.24179	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	9	0	0	0	1	0	40	9				
CRAMP1L	57585	broad.mit.edu	37	16	1718033	1718033	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:1718033C>T	ENST00000397412.3	+	18	3272	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S1058F|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S436F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S1055F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1058						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATACCGCTGTCCTCGTCAGAG	0.602																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3172-3174)tCc>tTc		Crm, cramped-like (Drosophila)							44.0	44.0	44.0					16																	1718033		2076	4225	6301	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1718033C>T	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3173C>T	16.37:g.1718033C>T	ENSP00000380559:p.Ser1058Phe					CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S436F|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S1055F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S1058F	p.S1058F			Q96RY5	CRML_HUMAN			18	3272	+			1058					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.3173C>T	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417345	0.83449	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.86	4.9	0.64082	.	0.472319	0.24024	N	0.042244	T	0.21387	0.0515	N	0.08118	0	0.31021	N	0.718115	P	0.44946	0.846	B	0.37198	0.243	T	0.09422	-1.0675	9	0.56958	D	0.05	-7.5446	16.9765	0.86314	0.0:0.8723:0.1277:0.0	.	1058	Q96RY5	CRML_HUMAN	F	1058;1058;1055;436	.	ENSP00000262317:S436F	S	+	2	0	CRAMP1L	1658034	0.971000	0.33674	0.008000	0.14137	0.142000	0.21351	3.832000	0.55783	1.462000	0.47948	0.650000	0.86243	TCC		0.602	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			22	43	0	0	0	1	0	22	43				
ARSK	153642	broad.mit.edu	37	5	94918697	94918697	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:94918697G>A	ENST00000380009.4	+	4	699	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	165					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AATCTTATCCGTAACAGGACT	0.418																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(493-495)cGt>cAt		arylsulfatase family, member K							145.0	140.0	142.0					5																	94918697		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94918697G>A		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.494G>A	5.37:g.94918697G>A	ENSP00000369346:p.Arg165His						p.R165H	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	4	699	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	165					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.494G>A	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403126	0.25291	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.98550	-4.99	6.02	3.28	0.37604	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.322034	0.35013	N	0.003518	D	0.91536	0.7327	N	0.08118	0	0.27003	N	0.964871	B	0.23316	0.083	B	0.18561	0.022	T	0.83251	-0.0053	10	0.12430	T	0.62	-7.5499	5.079	0.14647	0.223:0.3815:0.3284:0.0671	.	165	Q6UWY0	ARSK_HUMAN	H	165	ENSP00000369346:R165H	ENSP00000369346:R165H	R	+	2	0	ARSK	94944453	0.978000	0.34361	0.042000	0.18584	0.485000	0.33311	2.804000	0.47931	0.432000	0.26286	-0.882000	0.02950	CGT		0.418	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		4	124	0	0	0	1	0	4	124				
ERG	2078	broad.mit.edu	37	21	39755828	39755828	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr21:39755828G>A	ENST00000417133.2	-	12	1143	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F	ERG_ENST00000398907.1_Missense_Mutation_p.L290F|ERG_ENST00000398910.1_Missense_Mutation_p.L297F|ERG_ENST00000398919.2_Missense_Mutation_p.L320F|ERG_ENST00000288319.7_Missense_Mutation_p.L313F|ERG_ENST00000398905.1_Missense_Mutation_p.L289F|ERG_ENST00000442448.1_Missense_Mutation_p.L296F|ERG_ENST00000398911.1_Missense_Mutation_p.L296F|ERG_ENST00000453032.2_Missense_Mutation_p.L221F|ERG_ENST00000398897.1_Missense_Mutation_p.L197F	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0			S -> L (in LQT2). {ECO:0000269|PubMed:15840476}.		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AACTGCCAAAGCTGGATCTGG	0.572			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(886-888)Ctt>Ttt		v-ets avian erythroblastosis virus E26 oncogene homolog							44.0	45.0	44.0					21																	39755828		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755828G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.958C>T	21.37:g.39755828G>A	ENSP00000414150:p.Leu320Phe					ERG_ENST00000398910.1_Missense_Mutation_p.L297F|ERG_ENST00000288319.7_Missense_Mutation_p.L313F|ERG_ENST00000398905.1_Missense_Mutation_p.L289F|ERG_ENST00000398897.1_Missense_Mutation_p.L197F|ERG_ENST00000398911.1_Missense_Mutation_p.L296F|ERG_ENST00000398919.2_Missense_Mutation_p.L320F|ERG_ENST00000417133.2_Missense_Mutation_p.L320F|ERG_ENST00000453032.2_Missense_Mutation_p.L221F|ERG_ENST00000398907.1_Missense_Mutation_p.L290F	p.L296F	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1157	-		Prostate(19;3.6e-06)	320					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.886C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366021	0.82463	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.91597	0.7345	H	0.97587	4.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94588	0.7785	10	0.87932	D	0	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	320;289;296;313	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	F	289;290;313;197;296;320;297;296;221;320	ENSP00000381877:L289F;ENSP00000381879:L290F;ENSP00000288319:L313F;ENSP00000381871:L197F;ENSP00000381882:L296F;ENSP00000414150:L320F;ENSP00000381881:L297F;ENSP00000394694:L296F;ENSP00000396268:L221F;ENSP00000381891:L320F	ENSP00000288319:L313F	L	-	1	0	ERG	38677698	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	CTT		0.572	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		5	86	0	0	0	1	0	5	86				
PLVAP	83483	broad.mit.edu	37	19	17476154	17476154	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:17476154G>C	ENST00000252590.4	-	3	1181	c.1120C>G	c.(1120-1122)Cag>Gag	p.Q374E	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	374					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCTGAGCTGCTCCGCCTCC	0.622																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1120-1122)Cag>Gag		plasmalemma vesicle associated protein							99.0	86.0	90.0					19																	17476154		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476154G>C	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1120C>G	19.37:g.17476154G>C	ENSP00000252590:p.Gln374Glu						p.Q374E	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			3	1181	-			374					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.1120C>G	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	7.278	0.608528	0.14002	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.31	3.15	0.36227	.	1.113020	0.06596	N	0.752845	T	0.25568	0.0622	L	0.29908	0.895	0.09310	N	1	B	0.33000	0.393	B	0.31946	0.138	T	0.17018	-1.0383	9	0.12103	T	0.63	-3.7921	8.3346	0.32206	0.1887:0.0:0.8113:0.0	.	374	Q9BX97	PLVAP_HUMAN	E	374	.	ENSP00000252590:Q374E	Q	-	1	0	PLVAP	17337154	0.307000	0.24500	0.112000	0.21494	0.307000	0.27823	2.141000	0.42168	1.242000	0.43836	0.462000	0.41574	CAG		0.622	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		40	67	0	0	0	1	0	40	67				
CYP2B6	1555	broad.mit.edu	37	19	41515236	41515236	+	Missense_Mutation	SNP	G	G	A	rs373086625		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:41515236G>A	ENST00000324071.4	+	5	765	c.758G>A	c.(757-759)cGt>cAt	p.R253H	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	253					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GAGAAGCACCGTGAAACCCTG	0.527																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(757-759)cGt>cAt		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						77.0	83.0	81.0					19																	41515236		2202	4300	6502	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515236G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.758G>A	19.37:g.41515236G>A	ENSP00000324648:p.Arg253His					CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	p.R253H	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		5	765	+			253					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.758G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	13.53	2.264098	0.39995	.	.	ENSG00000197408	ENST00000324071	T	0.71103	-0.54	4.32	0.823	0.18812	.	0.285244	0.31061	N	0.008327	T	0.62490	0.2432	M	0.73319	2.225	0.09310	N	0.999999	B	0.27594	0.182	B	0.23852	0.049	T	0.57195	-0.7853	10	0.56958	D	0.05	.	5.5972	0.17333	0.4638:0.0:0.5362:0.0	.	253	P20813	CP2B6_HUMAN	H	253	ENSP00000324648:R253H	ENSP00000324648:R253H	R	+	2	0	CYP2B6	46207076	0.000000	0.05858	0.310000	0.25168	0.440000	0.31957	0.378000	0.20569	0.465000	0.27167	0.313000	0.20887	CGT		0.527	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		63	129	0	0	0	1	0	63	129				
KIAA1467	57613	broad.mit.edu	37	12	13208856	13208856	+	Missense_Mutation	SNP	A	A	G	rs201489154		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:13208856A>G	ENST00000197268.8	+	2	529	c.409A>G	c.(409-411)Agc>Ggc	p.S137G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	137						integral component of membrane (GO:0016021)		p.S137G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CAGCACCTGGAGCCGCCACTT	0.517																																						ENST00000197268.8																			1	Substitution - Missense(1)	p.S137G(1)	endometrium(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(409-411)Agc>Ggc		KIAA1467							24.0	25.0	25.0					12																	13208856		2188	4263	6451	SO:0001583	missense	57613					integral to membrane		g.chr12:13208856A>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.409A>G	12.37:g.13208856A>G	ENSP00000197268:p.Ser137Gly						p.S137G	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	529	+		Prostate(47;0.184)	137					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.409A>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	a	9.423	1.083561	0.20309	.	.	ENSG00000084444	ENST00000197268	T	0.26810	1.71	5.13	3.96	0.45880	Quinonprotein alcohol dehydrogenase-like (1);	0.429168	0.28772	N	0.014182	T	0.21062	0.0507	L	0.54323	1.7	0.24208	N	0.995489	B	0.27679	0.185	B	0.23852	0.049	T	0.17992	-1.0351	10	0.24483	T	0.36	-10.0343	7.2983	0.26405	0.7779:0.1466:0.0756:0.0	.	137	A2RU67	K1467_HUMAN	G	137	ENSP00000197268:S137G	ENSP00000197268:S137G	S	+	1	0	KIAA1467	13100123	1.000000	0.71417	0.989000	0.46669	0.694000	0.40290	2.497000	0.45354	0.766000	0.33244	0.487000	0.48397	AGC		0.517	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		10	36	0	0	0	1	0	10	36				
TTC17	55761	broad.mit.edu	37	11	43423074	43423074	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr11:43423074G>A	ENST00000039989.4	+	10	1312	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R433H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	433					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGCTATCATCGTGGAGATATC	0.373																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1297-1299)cGt>cAt		tetratricopeptide repeat domain 17																																				SO:0001583	missense	55761						binding	g.chr11:43423074G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1298G>A	11.37:g.43423074G>A	ENSP00000039989:p.Arg433His					TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R433H	p.R433H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			10	1312	+			433					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1298G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267308	0.95399	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.38240	1.15;1.19	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.983;0.991;0.996	T	0.51537	-0.8693	10	0.44086	T	0.13	-13.6429	20.8794	0.99867	0.0:0.0:1.0:0.0	.	433;433;433	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	433	ENSP00000299240:R433H;ENSP00000039989:R433H	ENSP00000039989:R433H	R	+	2	0	TTC17	43379650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.825000	0.92029	2.941000	0.99782	0.655000	0.94253	CGT		0.373	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		10	20	0	0	0	1	0	10	20				
XYLT1	64131	broad.mit.edu	37	16	17202869	17202869	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:17202869C>T	ENST00000261381.6	-	12	2647	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	855					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTTCAGTGCCTCCTCTGAA	0.562																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2563-2565)Gca>Aca		xylosyltransferase I							60.0	63.0	62.0					16																	17202869		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202869C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2563G>A	16.37:g.17202869C>T	ENSP00000261381:p.Ala855Thr						p.A855T	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			12	2647	-			855					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2563G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966449	0.34659	.	.	ENSG00000103489	ENST00000261381	T	0.04970	3.52	5.81	2.5	0.30297	.	0.388845	0.31145	N	0.008163	T	0.08044	0.0201	M	0.77103	2.36	0.47009	D	0.999285	B	0.22746	0.074	B	0.19148	0.024	T	0.12863	-1.0531	10	0.45353	T	0.12	-4.2815	3.1441	0.06466	0.1617:0.549:0.1149:0.1744	.	855	Q86Y38	XYLT1_HUMAN	T	855	ENSP00000261381:A855T	ENSP00000261381:A855T	A	-	1	0	XYLT1	17110370	0.483000	0.25956	0.934000	0.37439	0.567000	0.35839	1.075000	0.30716	0.742000	0.32697	0.655000	0.94253	GCA		0.562	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		48	38	0	0	0	1	0	48	38				
IPO8	10526	broad.mit.edu	37	12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A	rs377410854		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:30827606G>A	ENST00000256079.4	-	7	1149	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	IPO8_ENST00000544829.1_Missense_Mutation_p.R66W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	271					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.R271W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418																																						ENST00000256079.4																			1	Substitution - Missense(1)	p.R271W(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(811-813)Cgg>Tgg		importin 8							248.0	236.0	240.0					12																	30827606		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30827606G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.811C>T	12.37:g.30827606G>A	ENSP00000256079:p.Arg271Trp					IPO8_ENST00000544829.1_Missense_Mutation_p.R66W	p.R271W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			7	1149	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		271					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.811C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978488	0.74360	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.68624	1.4;-0.34;-0.34	3.99	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.052718	0.64402	D	0.000001	D	0.85150	0.5631	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89392	0.3689	10	0.87932	D	0	-5.7408	16.6289	0.85011	0.0:0.0:1.0:0.0	.	66;271	B7Z7M3;O15397	.;IPO8_HUMAN	W	271;66;85	ENSP00000256079:R271W;ENSP00000444520:R66W;ENSP00000439556:R85W	ENSP00000256079:R271W	R	-	1	2	IPO8	30718873	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.205000	0.51090	2.202000	0.70862	0.563000	0.77884	CGG		0.418	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		73	119	0	0	0	1	0	73	119				
OR1D2	4991	broad.mit.edu	37	17	2995927	2995927	+	Missense_Mutation	SNP	G	G	A	rs73300984	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:2995927G>A	ENST00000331459.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	122					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCCACATAGCGGTCATATGCC	0.537													.|||	7	0.00139776	0.0053	0.0	5008	,	,		20713	0.0		0.0	False		,,,				2504	0.0					ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(364-366)Cgc>Tgc		olfactory receptor, family 1, subfamily D, member 2		G	CYS/ARG	39,4367	43.8+/-77.6	0,39,2164	118.0	120.0	120.0		364	3.0	1.0	17	dbSNP_130	120	1,8599		0,1,4299	yes	missense	OR1D2	NM_002548.2	180	0,40,6463	AA,AG,GG		0.0116,0.8852,0.3076	benign	122/313	2995927	40,12966	2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995927G>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.364C>T	17.37:g.2995927G>A	ENSP00000327585:p.Arg122Cys						p.R122C	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	363	-			122					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.364C>T	CCDS11019.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	13.77	2.334986	0.41398	0.008852	1.16E-4	ENSG00000184166	ENST00000331459	T	0.77358	-1.09	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75042	0.3796	M	0.90019	3.08	0.45390	D	0.99837	B	0.26318	0.146	B	0.22601	0.04	T	0.81435	-0.0934	9	0.87932	D	0	.	12.62	0.56597	0.0:0.0:1.0:0.0	.	122	P34982	OR1D2_HUMAN	C	122	ENSP00000327585:R122C	ENSP00000327585:R122C	R	-	1	0	OR1D2	2942677	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	3.504000	0.53347	1.489000	0.48450	0.543000	0.68304	CGC		0.537	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		22	103	0	0	0	1	0	22	103				
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13350	0.0		0.0	False		,,,				2504	0.001					ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		HGF activator							13.0	16.0	15.0					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G						HGFAC_ENST00000511533.1_Silent_p.L23L	p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	184	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	60	0	0	0	1	0	3	60				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	31	0	0	0	1	0	4	31				
SLC6A3	6531	broad.mit.edu	37	5	1411405	1411405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:1411405delC	ENST00000270349.9	-	9	1349	c.1222delG	c.(1222-1224)gccfs	p.A408fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.A408fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	408					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AAGACCACGGCCCAGGCTGAG	0.637																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1222-1224)ccfs		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						85.0	66.0	72.0					5																	1411405		2142	4224	6366	SO:0001589	frameshift_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1411405delC		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1222delG	5.37:g.1411405delC	ENSP00000270349:p.Ala408fs					SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.A408fs	p.A408fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		9	1349	-			408					A2RUN4|Q14996	Frame_Shift_Del	DEL	ENST00000270349.9	37	c.1222delG	CCDS3863.1																																																																																				0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		2	4						2	4	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:75142142delA	ENST00000418756.1	-	0	991				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													|||unknown(NO_COVERAGE)	2287	0.456669	0.1619	0.6037	5008	,	,		12703	0.6558		0.4861	False		,,,				2504	0.5153				NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75142142delA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75142142delA								NR_028059.1						0	991	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.418	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		4	3						4	3	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			9	11						9	11	---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63858726	63858730	+	Frame_Shift_Del	DEL	TACTA	TACTA	-	rs368179547		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:63858726_63858730delTACTA	ENST00000337537.3	-	9	1465_1469	c.863_867delTAGTA	c.(862-867)atagtafs	p.IV288fs	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Frame_Shift_Del_p.IV288fs|PPP2R5E_ENST00000422769.2_Frame_Shift_Del_p.IV212fs	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	288					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCAGAAACTGTACTATACAATATGC	0.293																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(862-867)afs		protein phosphatase 2, regulatory subunit B', epsilon isoform																																				SO:0001589	frameshift_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858726_63858730delTACTA	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.863_867delTAGTA	14.37:g.63858726_63858730delTACTA	ENSP00000337641:p.Ile288fs					PPP2R5E_ENST00000422769.2_Frame_Shift_Del_p.IV212fs|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Frame_Shift_Del_p.IV288fs	p.IV288fs	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	9	1465_1469	-			288					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Frame_Shift_Del	DEL	ENST00000337537.3	37	c.863_867delTAGTA	CCDS9758.1																																																																																				0.293	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		8	15						8	15	---	---	---	---
TMEM143	55260	broad.mit.edu	37	19	48837278	48837278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:48837278delT	ENST00000293261.3	-	7	1468	c.1152delA	c.(1150-1152)caafs	p.Q384fs	TMEM143_ENST00000435956.3_Frame_Shift_Del_p.Q349fs|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.Q319fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.Q284fs|TMEM143_ENST00000541566.1_Frame_Shift_Del_p.Q274fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	384					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CGGGCGAGCCTTGAGTGCCCC	0.751											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(1150-1152)cafs		transmembrane protein 143							8.0	9.0	9.0					19																	48837278		2160	4238	6398	SO:0001589	frameshift_variant	55260					integral to membrane|mitochondrion		g.chr19:48837278delT	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1152delA	19.37:g.48837278delT	ENSP00000293261:p.Gln384fs		OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	957	TMEM143_ENST00000541566.1_Frame_Shift_Del_p.Q274fs|TMEM143_ENST00000435956.3_Frame_Shift_Del_p.Q349fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.Q284fs|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.Q319fs	p.Q384fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	7	1468	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	384					A8K656|Q6UXY4|Q9NV49	Frame_Shift_Del	DEL	ENST00000293261.3	37	c.1152delA	CCDS12716.1																																																																																				0.751	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		2	4						2	4	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		5	10						5	10	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73812199	73812200	+	Frame_Shift_Ins	INS	-	-	G	rs61752449		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:73812199_73812200insG	ENST00000332687.6	-	4	1168_1169	c.950_951insC	c.(949-951)ccafs	p.P317fs	RLIM_ENST00000349225.2_Frame_Shift_Ins_p.P317fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	317					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGACTATGGTTGGAGGTCTCTG	0.48																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(949-951)cacfs		ring finger protein, LIM domain interacting																																				SO:0001589	frameshift_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812199_73812200insG	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.951dupC	X.37:g.73812201_73812201dupG	ENSP00000328059:p.Pro317fs					RLIM_ENST00000349225.2_Frame_Shift_Ins_p.H317fs	p.H317fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1168_1169	-			317					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Frame_Shift_Ins	INS	ENST00000332687.6	37	c.950_951insC	CCDS14427.1																																																																																				0.480	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		30	34						30	34	---	---	---	---
