#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
HCFC1	3054	broad.mit.edu	37	X	153230117	153230117	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:153230117T>C	ENST00000310441.7	-	2	1220	c.254A>G	c.(253-255)tAt>tGt	p.Y85C	HCFC1_ENST00000354233.3_Missense_Mutation_p.Y85C|HCFC1_ENST00000369984.4_Missense_Mutation_p.Y85C|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	85					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACGAAGCCATAGGCTGCACA	0.582											OREG0003629	type=REGULATORY REGION|Gene=HCFC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(253-255)tAt>tGt		host cell factor C1 (VP16-accessory protein)							95.0	105.0	102.0					X																	153230117		2148	4221	6369	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153230117T>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.254A>G	X.37:g.153230117T>C	ENSP00000309555:p.Tyr85Cys		OREG0003629	type=REGULATORY REGION|Gene=HCFC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1754	HCFC1_ENST00000354233.3_Missense_Mutation_p.Y85C|HCFC1_ENST00000369984.4_Missense_Mutation_p.Y85C	p.Y85C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			2	1220	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		85					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.254A>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367831	0.82463	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.66099	-0.18;-0.18;-0.19	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.75584	-0.3267	10	0.87932	D	0	.	13.4587	0.61214	0.0:0.0:0.0:1.0	.	85	P51610	HCFC1_HUMAN	C	85	ENSP00000309555:Y85C;ENSP00000359001:Y85C;ENSP00000346174:Y85C	ENSP00000309555:Y85C	Y	-	2	0	HCFC1	152883311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.607000	0.82883	1.821000	0.53095	0.381000	0.24937	TAT		0.582	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		60	17	0	0	0	1	0	60	17				
OR6A2	8590	broad.mit.edu	37	11	6816677	6816677	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:6816677C>G	ENST00000332601.3	-	1	451	c.263G>C	c.(262-264)gGa>gCa	p.G88A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	88					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGTTTGGATCCAACAAAGCC	0.463																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(262-264)gGa>gCa		olfactory receptor, family 6, subfamily A, member 2							149.0	140.0	143.0					11																	6816677		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816677C>G	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.263G>C	11.37:g.6816677C>G	ENSP00000330384:p.Gly88Ala						p.G88A	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	451	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	88					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.263G>C	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.765672	0.00651	.	.	ENSG00000184933	ENST00000332601	T	0.02890	4.12	4.88	0.525	0.17072	GPCR, rhodopsin-like superfamily (1);	0.528450	0.16484	N	0.212414	T	0.01092	0.0036	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48043	-0.9069	10	0.19590	T	0.45	.	2.756	0.05293	0.3292:0.4194:0.16:0.0913	.	88	O95222	OR6A2_HUMAN	A	88	ENSP00000330384:G88A	ENSP00000330384:G88A	G	-	2	0	OR6A2	6773253	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-0.052000	0.11865	0.329000	0.23460	-0.261000	0.10672	GGA		0.463	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		47	40	0	0	0	1	0	47	40				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>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.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	131	0	0	0	1	0	5	131				
LSS	4047	broad.mit.edu	37	21	47614430	47614430	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr21:47614430C>T	ENST00000397728.3	-	20	2041	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	LSS_ENST00000356396.4_Missense_Mutation_p.A655T|LSS_ENST00000457828.2_Missense_Mutation_p.A575T|LSS_ENST00000522411.1_Missense_Mutation_p.A644T|AP001468.1_ENST00000594486.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	655					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCCATCATGGCCCAGCATGTG	0.637																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(1963-1965)Gcc>Acc		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							95.0	75.0	82.0					21																	47614430		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47614430C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1963G>A	21.37:g.47614430C>T	ENSP00000380837:p.Ala655Thr					LSS_ENST00000522411.1_Missense_Mutation_p.A644T|LSS_ENST00000457828.2_Missense_Mutation_p.A575T|LSS_ENST00000356396.4_Missense_Mutation_p.A655T	p.A655T	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			20	2041	-	Breast(49;0.214)		655					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1963G>A	CCDS13733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.737106|4.737106	0.89482|0.89482	.|.	.|.	ENSG00000160285|ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411|ENST00000419093	T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);|.	0.049874|.	0.85682|.	D|.	0.000000|.	D|D	0.86818|0.86818	0.6024|0.6024	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71656|.	0.955;0.974|.	D|D	0.90308|0.90308	0.4335|0.4335	10|5	0.62326|.	D|.	0.03|.	.|.	18.4342|18.4342	0.90638|0.90638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	644;655|.	E9PEI9;P48449|.	.;ERG7_HUMAN|.	T|D	655;575;655;644|22	ENSP00000348762:A655T;ENSP00000409191:A575T;ENSP00000380837:A655T;ENSP00000429133:A644T|.	ENSP00000348762:A655T|.	A|G	-|-	1|2	0|0	LSS|LSS	46438858|46438858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.405000|0.405000	0.30901|0.30901	7.201000|7.201000	0.77847|0.77847	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.637	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			22	31	0	0	0	1	0	22	31				
DNAH8	1769	broad.mit.edu	37	6	38851677	38851677	+	Missense_Mutation	SNP	A	A	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr6:38851677A>C	ENST00000359357.3	+	54	7765	c.7511A>C	c.(7510-7512)aAg>aCg	p.K2504T	DNAH8_ENST00000449981.2_Missense_Mutation_p.K2721T|DNAH8_ENST00000441566.1_Missense_Mutation_p.K2468T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2504	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACGTGGATAAGCGAATTGGA	0.363																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7510-7512)aAg>aCg		dynein, axonemal, heavy chain 8							109.0	111.0	110.0					6																	38851677		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38851677A>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7511A>C	6.37:g.38851677A>C	ENSP00000352312:p.Lys2504Thr					DNAH8_ENST00000441566.1_Missense_Mutation_p.K2468T|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2721T	p.K2504T							54	7765	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7511A>C		.	.	.	.	.	.	.	.	.	.	A	25.1	4.601660	0.87055	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16743	2.32;2.32;2.32	4.86	4.86	0.63082	ATPase, AAA+ type, core (1);	0.051217	0.85682	D	0.000000	T	0.51415	0.1673	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72007	-0.4420	10	0.87932	D	0	.	14.7365	0.69419	1.0:0.0:0.0:0.0	.	2504	Q96JB1	DYH8_HUMAN	T	2709;2709;2504;2468	ENSP00000333363:K2709T;ENSP00000352312:K2504T;ENSP00000402294:K2468T	ENSP00000333363:K2709T	K	+	2	0	DNAH8	38959655	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.277000	0.95755	1.942000	0.56320	0.454000	0.30748	AAG		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		27	101	0	0	0	1	0	27	101				
CFH	3075	broad.mit.edu	37	1	196714954	196714954	+	Silent	SNP	A	A	G	rs1137971	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:196714954A>G	ENST00000367429.4	+	21	3558	c.3318A>G	c.(3316-3318)acA>acG	p.T1106T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1106					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAGATTCTACAGGAAAATGTG	0.393													A|||	3	0.000599042	0.0	0.0	5008	,	,		17687	0.001		0.0	False		,,,				2504	0.002					ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3316-3318)acA>acG		complement factor H							161.0	153.0	156.0					1																	196714954		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196714954A>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3318A>G	1.37:g.196714954A>G							p.T1106T	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			21	3558	+			1106					A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3318A>G	CCDS1385.1																																																																																				0.393	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		5	158	0	0	0	1	0	5	158				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			9	97	0	0	0	1	0	9	97				
COX6A1	1337	broad.mit.edu	37	12	120876300	120876300	+	Silent	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:120876300C>T	ENST00000229379.2	+	2	259	c.222C>T	c.(220-222)taC>taT	p.Y74Y	AL021546.6_ENST00000551806.1_Missense_Mutation_p.P51S	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	74					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCGCCTACCCCCATCTCC	0.547																																						ENST00000551806.1																			0											c.(151-153)Ccc>Tcc									121.0	106.0	111.0					12																	120876300		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr12:120876300C>T	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.222C>T	12.37:g.120876300C>T						COX6A1_ENST00000229379.2_Silent_p.Y74Y	p.P51S							2	151	+								B2R500|O43714|Q32Q37	Missense_Mutation	SNP	ENST00000229379.2	37	c.151C>T	CCDS9197.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384232	0.25031	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.13	4.25	0.50352	.	.	.	.	.	T	0.69611	0.3130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68868	-0.5295	4	.	.	.	-15.2309	13.9545	0.64140	0.0:0.9264:0.0:0.0736	.	.	.	.	S	51	.	.	P	+	1	0	GATC	119360683	0.601000	0.26907	0.993000	0.49108	0.872000	0.50106	1.215000	0.32431	1.295000	0.44724	0.655000	0.94253	CCC		0.547	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3	NM_004373		74	71	0	0	0	1	0	74	71				
MEGF8	1954	broad.mit.edu	37	19	42880633	42880633	+	Silent	SNP	A	A	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:42880633A>G	ENST00000251268.6	+	42	8244	c.8244A>G	c.(8242-8244)ggA>ggG	p.G2748G	MEGF8_ENST00000378073.4_Silent_p.G342G|MEGF8_ENST00000334370.4_Silent_p.G2681G	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2748	Gly-rich.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GACCCATGGGAGGGGGCTGCT	0.721																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(8041-8043)ggA>ggG		multiple EGF-like-domains 8							6.0	7.0	7.0					19																	42880633		2127	4152	6279	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880633A>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.8244A>G	19.37:g.42880633A>G						MEGF8_ENST00000378073.4_Silent_p.G342G|MEGF8_ENST00000251268.6_Silent_p.G2748G	p.G2681G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			41	8678	+		Prostate(69;0.00682)	2748					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.8043A>G																																																																																					0.721	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		5	8	0	0	0	1	0	5	8				
LCE2C	353140	broad.mit.edu	37	1	152648727	152648727	+	Missense_Mutation	SNP	G	G	A	rs199701090		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:152648727G>A	ENST00000368783.1	+	2	291	c.236G>A	c.(235-237)cGt>cAt	p.R79H	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	79	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		13590	0.0		0.001	False		,,,				2504	0.0					ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(235-237)cGt>cAt		late cornified envelope 2C							41.0	51.0	47.0					1																	152648727		2202	4299	6501	SO:0001583	missense	353140				keratinization			g.chr1:152648727G>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.236G>A	1.37:g.152648727G>A	ENSP00000357772:p.Arg79His					LCE2B_ENST00000417924.2_Intron	p.R79H	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	291	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		79			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.236G>A	CCDS1019.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	3.245	-0.154537	0.06544	.	.	ENSG00000187180	ENST00000368783	T	0.04406	3.63	2.59	-5.18	0.02840	.	.	.	.	.	T	0.00552	0.0018	N	0.03999	-0.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	9	0.28530	T	0.3	.	8.4118	0.32648	0.253:0.0:0.6327:0.1142	.	79	Q5TA81	LCE2C_HUMAN	H	79	ENSP00000357772:R79H	ENSP00000357772:R79H	R	+	2	0	LCE2C	150915351	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	-3.155000	0.00580	-3.219000	0.00212	-2.792000	0.00115	CGT		0.682	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		127	132	0	0	0	1	0	127	132				
PGAM1	5223	broad.mit.edu	37	10	99190370	99190370	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:99190370C>T	ENST00000334828.5	+	2	522	c.374C>T	c.(373-375)cCg>cTg	p.P125L	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	125	Pro-rich.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CCACCACCTCCGATGGAGCCC	0.527																																						ENST00000334828.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(373-375)cCg>cTg		phosphoglycerate mutase 1 (brain)							43.0	44.0	44.0					10																	99190370		2201	4295	6496	SO:0001583	missense	5223				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding	g.chr10:99190370C>T	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.374C>T	10.37:g.99190370C>T	ENSP00000359991:p.Pro125Leu					PGAM1_ENST00000467867.1_3'UTR	p.P125L	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)	2	522	+		Colorectal(252;0.162)	125			Pro-rich.		Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	c.374C>T	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225340	0.39300	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.79554	-1.28	5.59	4.69	0.59074	Histidine phosphatase superfamily, clade-1 (2);	0.126462	0.53938	D	0.000052	T	0.78941	0.4363	M	0.76170	2.325	0.58432	D	0.999997	B;B;B	0.33198	0.401;0.016;0.065	B;B;B	0.26517	0.07;0.021;0.032	T	0.79776	-0.1661	10	0.66056	D	0.02	-23.532	14.3691	0.66828	0.0:0.9278:0.0:0.0722	.	110;125;125	B4DKL5;Q0D2Q6;P18669	.;.;PGAM1_HUMAN	L	125;15	ENSP00000359991:P125L	ENSP00000359991:P125L	P	+	2	0	PGAM1	99180360	0.790000	0.28787	0.494000	0.27515	0.548000	0.35241	4.683000	0.61679	1.373000	0.46208	-0.215000	0.12644	CCG		0.527	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629		20	84	0	0	0	1	0	20	84				
CCDC88B	283234	broad.mit.edu	37	11	64109583	64109583	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:64109583G>A	ENST00000356786.5	+	8	837	c.793G>A	c.(793-795)Gct>Act	p.A265T	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	265						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACGCCAAGGCTCAGCTGCG	0.677																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(793-795)Gct>Act		coiled-coil domain containing 88B							12.0	14.0	13.0					11																	64109583		2196	4291	6487	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109583G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.793G>A	11.37:g.64109583G>A	ENSP00000349238:p.Ala265Thr					CCDC88B_ENST00000463837.1_3'UTR	p.A265T	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	837	+			265					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.793G>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	32	5.138311	0.94560	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.57752	0.38	3.96	3.96	0.45880	.	.	.	.	.	T	0.69922	0.3165	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73610	-0.3928	9	0.87932	D	0	.	11.8013	0.52128	0.0:0.0:1.0:0.0	.	265;265	B2RTU8;A6NC98	.;CC88B_HUMAN	T	265	ENSP00000349238:A265T	ENSP00000349238:A265T	A	+	1	0	CCDC88B	63866159	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.928000	0.56506	2.242000	0.73789	0.437000	0.28790	GCT		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		17	9	0	0	0	1	0	17	9				
DPY19L2	283417	broad.mit.edu	37	12	63974461	63974461	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974461G>C	ENST00000324472.4	-	19	2064	c.1881C>G	c.(1879-1881)atC>atG	p.I627M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I74M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	627					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TACTGTATTTGATCCACTGTA	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1879-1881)atC>atG		dpy-19-like 2 (C. elegans)							90.0	90.0	90.0					12																	63974461		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974461G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1881C>G	12.37:g.63974461G>C	ENSP00000315988:p.Ile627Met					DPY19L2_ENST00000413230.2_Missense_Mutation_p.I74M	p.I627M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	19	2064	-			627					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1881C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861418	0.32884	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.67865	-0.29;-0.29	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.73962	2.25	0.46901	D	0.999245	D	0.61080	0.989	D	0.65573	0.936	T	0.76735	-0.2850	9	.	.	.	.	8.3201	0.32124	0.0:0.0:0.7643:0.2357	.	627	Q6NUT2	D19L2_HUMAN	M	627;74	ENSP00000315988:I627M;ENSP00000439794:I74M	.	I	-	3	3	DPY19L2	62260728	1.000000	0.71417	0.989000	0.46669	0.526000	0.34562	1.396000	0.34531	1.920000	0.55613	0.305000	0.20034	ATC		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		20	100	0	0	0	1	0	20	100				
ARFGEF1	10565	broad.mit.edu	37	8	68204156	68204156	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr8:68204156T>C	ENST00000262215.3	-	6	1231	c.842A>G	c.(841-843)gAg>gGg	p.E281G		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	281					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTTTCAGGCTCTGTGTCATC	0.423																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(841-843)gAg>gGg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							173.0	161.0	165.0					8																	68204156		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68204156T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.842A>G	8.37:g.68204156T>C	ENSP00000262215:p.Glu281Gly						p.E281G	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		6	1231	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	281					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.842A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834390	0.50951	.	.	ENSG00000066777	ENST00000262215	T	0.22336	1.96	5.22	5.22	0.72569	Armadillo-type fold (1);	0.250737	0.39146	N	0.001445	T	0.21881	0.0527	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.02491	-1.1151	10	0.30078	T	0.28	.	15.1269	0.72489	0.0:0.0:0.0:1.0	.	281	Q9Y6D6	BIG1_HUMAN	G	281	ENSP00000262215:E281G	ENSP00000262215:E281G	E	-	2	0	ARFGEF1	68366710	1.000000	0.71417	0.986000	0.45419	0.900000	0.52787	7.203000	0.77864	1.972000	0.57404	0.377000	0.23210	GAG		0.423	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		43	53	0	0	0	1	0	43	53				
PML	5371	broad.mit.edu	37	15	74336610	74336610	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr15:74336610G>C	ENST00000268058.3	+	9	2006	c.1910G>C	c.(1909-1911)cGc>cCc	p.R637P	PML_ENST00000565898.1_Missense_Mutation_p.R589P	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	637					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAAGTTCCGCGTGGTCATC	0.612			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1765-1767)cGc>cCc		promyelocytic leukemia							69.0	66.0	67.0					15																	74336610		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74336610G>C	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1910G>C	15.37:g.74336610G>C	ENSP00000268058:p.Arg637Pro					PML_ENST00000268058.3_Missense_Mutation_p.R637P	p.R589P			P29590	PML_HUMAN			8	1850	+			637					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1766G>C	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353995	0.41700	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.51071	0.72	5.22	4.31	0.51392	.	0.277119	0.26704	N	0.022927	T	0.47673	0.1458	L	0.29908	0.895	0.38547	D	0.949353	D;D	0.59767	0.986;0.98	P;P	0.58391	0.806;0.838	T	0.53472	-0.8434	10	0.72032	D	0.01	-12.307	7.1341	0.25519	0.0904:0.1728:0.7368:0.0	.	637;589	P29590;P29590-11	PML_HUMAN;.	P	637;198;637	ENSP00000268058:R637P	ENSP00000268058:R637P	R	+	2	0	PML	72123663	0.047000	0.20315	0.863000	0.33907	0.155000	0.21991	0.819000	0.27308	1.430000	0.47334	0.591000	0.81541	CGC		0.612	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		25	94	0	0	0	1	0	25	94				
MAG	4099	broad.mit.edu	37	19	35804291	35804291	+	Silent	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:35804291G>T	ENST00000392213.3	+	11	1974	c.1815G>T	c.(1813-1815)cgG>cgT	p.R605R	MAG_ENST00000537831.2_Silent_p.R580R|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	605					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGGGAAACGGCCCACCAAGG	0.642																																						ENST00000392213.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1813-1815)cgG>cgT		myelin associated glycoprotein							83.0	72.0	76.0					19																	35804291		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804291G>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1815G>T	19.37:g.35804291G>T						MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Silent_p.R580R	p.R605R	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1974	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	605					B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1815G>T	CCDS12455.1																																																																																				0.642	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		105	72	1	0	1.21621e-70	1	1.38995e-70	105	72				
DYNC1H1	1778	broad.mit.edu	37	14	102455116	102455116	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:102455116A>G	ENST00000360184.4	+	10	2959	c.2795A>G	c.(2794-2796)gAt>gGt	p.D932G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	932	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAAGCTGAAGATAAAGCAGAA	0.458																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(2794-2796)gAt>gGt		dynein, cytoplasmic 1, heavy chain 1							102.0	86.0	92.0					14																	102455116		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102455116A>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2795A>G	14.37:g.102455116A>G	ENSP00000348965:p.Asp932Gly						p.D932G	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			10	2959	+			932			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2795A>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726873	0.69074	.	.	ENSG00000197102	ENST00000360184	T	0.30182	1.54	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	L	0.49126	1.545	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.33111	-0.9881	10	0.34782	T	0.22	.	16.2037	0.82105	1.0:0.0:0.0:0.0	.	932	Q14204	DYHC1_HUMAN	G	932	ENSP00000348965:D932G	ENSP00000348965:D932G	D	+	2	0	DYNC1H1	101524869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.902000	0.92568	2.284000	0.76573	0.533000	0.62120	GAT		0.458	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		43	30	0	0	0	1	0	43	30				
CES4A	283848	broad.mit.edu	37	16	67040714	67040714	+	Missense_Mutation	SNP	G	G	A	rs201670214		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:67040714G>A	ENST00000326686.5	+	13	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CES4A_ENST00000540947.2_Intron|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000397205.2_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	504						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AACTTTGCCCGCACAGGGTGA	0.567																																						ENST00000326686.5																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1510-1512)cGc>cAc		carboxylesterase 4A		G	HIS/ARG,,	0,4074		0,0,2037	83.0	87.0	86.0		1217,,	2.2	0.9	16		86	1,8421		0,1,4210	yes	missense,intron,intron	CES4A	NM_001190201.1,NM_001190202.1,NM_173815.6	29,,	0,1,6247	AA,AG,GG		0.0119,0.0,0.0080	benign,,	406/464,,	67040714	1,12495	2037	4211	6248	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67040714G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1511G>A	16.37:g.67040714G>A	ENSP00000314145:p.Arg504His					CES4A_ENST00000397205.2_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000338718.4_Intron	p.R504H			Q5XG92	EST4A_HUMAN			13	1511	+			504					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1511G>A		.	.	.	.	.	.	.	.	.	.	G	14.37	2.515376	0.44763	0.0	1.19E-4	ENSG00000172824	ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.41	2.25	0.28309	.	0.731670	0.12145	N	0.495484	T	0.62539	0.2436	M	0.75884	2.315	0.25581	N	0.986796	B	0.23735	0.09	B	0.21546	0.035	T	0.57271	-0.7840	10	0.59425	D	0.04	.	4.9007	0.13773	0.085:0.1483:0.6133:0.1533	.	457	F5H5S4	.	H	457;434;504;397;406	ENSP00000443175:R457H;ENSP00000381397:R434H;ENSP00000314145:R504H;ENSP00000441103:R397H;ENSP00000441907:R406H	ENSP00000314145:R504H	R	+	2	0	CES4A	65598215	0.001000	0.12720	0.861000	0.33841	0.801000	0.45260	0.783000	0.26802	0.204000	0.20548	0.591000	0.81541	CGC		0.567	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		5	176	0	0	0	1	0	5	176				
HP	3240	broad.mit.edu	37	16	72094680	72094680	+	Missense_Mutation	SNP	C	C	G	rs371304177		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:72094680C>G	ENST00000355906.5	+	7	1170	c.1112C>G	c.(1111-1113)gCg>gGg	p.A371G	HP_ENST00000357763.4_Missense_Mutation_p.A407G|HP_ENST00000562526.1_3'UTR|HPR_ENST00000561690.1_5'Flank|HP_ENST00000570083.1_Missense_Mutation_p.A312G|HPR_ENST00000540303.2_5'Flank|HP_ENST00000565574.1_Missense_Mutation_p.A312G|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.A312G	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	371	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTGGTATGCGACTGGGATC	0.522																																						ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(1111-1113)gCg>gGg		haptoglobin							222.0	216.0	218.0					16																	72094680		2131	4236	6367	SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094680C>G		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.1112C>G	16.37:g.72094680C>G	ENSP00000348170:p.Ala371Gly					HP_ENST00000570083.1_Missense_Mutation_p.A312G|HP_ENST00000565574.1_Missense_Mutation_p.A312G|HP_ENST00000398131.2_Missense_Mutation_p.A312G|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron	p.A371G	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	1170	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	371			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.1112C>G	CCDS45524.1	.	.	.	.	.	.	.	.	.	.	C	2.573	-0.299189	0.05532	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.89485	-2.52;-2.52	5.21	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.131375	0.49916	D	0.000133	D	0.91891	0.7433	M	0.62209	1.925	0.23331	N	0.997892	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.99	D	0.83883	0.0280	10	0.87932	D	0	.	7.9624	0.30079	0.0:0.7529:0.1613:0.0858	.	193;246;312;371	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	G	371;312;246;347	ENSP00000348170:A371G;ENSP00000381199:A312G	ENSP00000348170:A371G	A	+	2	0	HP	70652181	0.949000	0.32298	0.007000	0.13788	0.016000	0.09150	2.289000	0.43523	0.752000	0.32923	0.650000	0.86243	GCG		0.522	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		38	153	0	0	0	1	0	38	153				
DPP10	57628	broad.mit.edu	37	2	116593798	116593798	+	Silent	SNP	C	C	T	rs369883174		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:116593798C>T	ENST00000410059.1	+	22	2496	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	DPP10_ENST00000393147.2_Silent_p.S676S|DPP10_ENST00000409163.1_Silent_p.S622S|DPP10_ENST00000310323.8_Silent_p.S665S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	672						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATGTGGATCCGTGGTTGCAC	0.328																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(2014-2016)tcC>tcT		dipeptidyl-peptidase 10 (non-functional)		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	83.0	81.0	82.0		1995,2028,1866,2004,2016	-8.3	1.0	2		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	665/790,676/801,622/747,668/793,672/797	116593798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593798C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2016C>T	2.37:g.116593798C>T						DPP10_ENST00000393147.2_Silent_p.S676S|DPP10_ENST00000409163.1_Silent_p.S622S|DPP10_ENST00000310323.8_Silent_p.S665S	p.S672S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			22	2496	+			672					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.2016C>T	CCDS46400.1																																																																																				0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		8	20	0	0	0	1	0	8	20				
TACC2	10579	broad.mit.edu	37	10	123810033	123810033	+	Silent	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:123810033G>T	ENST00000369005.1	+	3	454	c.114G>T	c.(112-114)acG>acT	p.T38T	TACC2_ENST00000334433.3_Silent_p.T38T|TACC2_ENST00000515273.1_Silent_p.T38T|TACC2_ENST00000453444.2_Silent_p.T38T|TACC2_ENST00000513429.1_Silent_p.T38T|TACC2_ENST00000515603.1_Silent_p.T38T|TACC2_ENST00000358010.1_Silent_p.T38T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	38					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGGACACGCCCGGAAGCC	0.577																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(112-114)acG>acT		transforming, acidic coiled-coil containing protein 2							47.0	49.0	48.0					10																	123810033		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123810033G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.114G>T	10.37:g.123810033G>T						TACC2_ENST00000515273.1_Silent_p.T38T|TACC2_ENST00000453444.2_Silent_p.T38T|TACC2_ENST00000334433.3_Silent_p.T38T|TACC2_ENST00000515603.1_Silent_p.T38T|TACC2_ENST00000358010.1_Silent_p.T38T|TACC2_ENST00000513429.1_Silent_p.T38T	p.T38T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			3	454	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	38					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.114G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	6.412	0.444115	0.12164	.	.	ENSG00000138162	ENST00000491540	.	.	.	4.39	-8.31	0.01001	.	.	.	.	.	T	0.24353	0.0590	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	2.2023	7.3401	0.26632	0.6128:0.0:0.1716:0.2156	.	.	.	.	S	55	.	.	A	+	1	0	TACC2	123800023	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-2.460000	0.00999	-1.992000	0.00975	-0.768000	0.03414	GCC		0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			21	31	1	0	2.4624e-09	1	2.56946e-09	21	31				
THAP3	90326	broad.mit.edu	37	1	6692465	6692465	+	Silent	SNP	G	G	A	rs146637042	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:6692465G>A	ENST00000054650.4	+	5	506	c.348G>A	c.(346-348)gcG>gcA	p.A116A	THAP3_ENST00000377627.3_Silent_p.A123A|THAP3_ENST00000307896.6_Silent_p.A115A|DNAJC11_ENST00000465508.1_5'Flank	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	116							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTGAGGCGGGGGCCGGAG	0.597																																						ENST00000377627.3																			0				breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(367-369)gcG>gcA		THAP domain containing, apoptosis associated protein 3		G	,,	0,4406		0,0,2203	45.0	44.0	44.0		345,348,369	-4.9	0.0	1	dbSNP_134	44	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	THAP3	NM_001195752.1,NM_001195753.1,NM_138350.3	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	115/239,116/240,123/176	6692465	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	90326						DNA binding|metal ion binding	g.chr1:6692465G>A	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.348G>A	1.37:g.6692465G>A						THAP3_ENST00000307896.6_Silent_p.A115A|THAP3_ENST00000054650.4_Silent_p.A116A	p.A123A	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	4	396	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Silent	SNP	ENST00000054650.4	37	c.369G>A	CCDS55572.1																																																																																				0.597	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		5	65	0	0	0	1	0	5	65				
ULK1	8408	broad.mit.edu	37	12	132405699	132405699	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:132405699C>T	ENST00000321867.4	+	27	3367	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	ULK1_ENST00000540647.1_Missense_Mutation_p.R251C	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1006					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.R1006C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTGCGTCCCACGCTACCACAA	0.672																																						ENST00000321867.4																			1	Substitution - Missense(1)	p.R1006C(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(3016-3018)Cgc>Tgc		unc-51 like autophagy activating kinase 1							47.0	46.0	46.0					12																	132405699		2203	4299	6502	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132405699C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3016C>T	12.37:g.132405699C>T	ENSP00000324560:p.Arg1006Cys					ULK1_ENST00000540647.1_Missense_Mutation_p.R251C	p.R1006C	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	27	3367	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		1006					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.3016C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271482	0.59649	.	.	ENSG00000177169	ENST00000321867;ENST00000540647	T;T	0.47177	0.85;0.85	5.03	3.18	0.36537	Serine/threonine-protein kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68584	-0.5370	10	0.87932	D	0	-33.4697	8.392	0.32533	0.3826:0.5436:0.0:0.0738	.	1006	O75385	ULK1_HUMAN	C	1006;251	ENSP00000324560:R1006C;ENSP00000441794:R251C	ENSP00000324560:R1006C	R	+	1	0	ULK1	130971652	1.000000	0.71417	0.616000	0.29078	0.645000	0.38454	2.174000	0.42482	0.606000	0.29965	0.561000	0.74099	CGC		0.672	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			20	39	0	0	0	1	0	20	39				
COL9A1	1297	broad.mit.edu	37	6	70964902	70964902	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr6:70964902G>T	ENST00000357250.6	-	23	1720	c.1562C>A	c.(1561-1563)gCt>gAt	p.A521D	COL9A1_ENST00000370499.4_Missense_Mutation_p.A278D|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.A278D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	521	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCACCTTCAGCCCCCTGCAG	0.448																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1561-1563)gCt>gAt		collagen, type IX, alpha 1							141.0	143.0	142.0					6																	70964902		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964902G>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1562C>A	6.37:g.70964902G>T	ENSP00000349790:p.Ala521Asp					COL9A1_ENST00000370499.4_Missense_Mutation_p.A278D|COL9A1_ENST00000320755.7_Missense_Mutation_p.A278D|COL9A1_ENST00000489611.1_5'UTR	p.A521D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			23	1720	-			521			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1562C>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	g	7.631	0.678807	0.14841	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93488	-3.23;-3.23;-3.23	5.73	-1.52	0.08637	.	1.345120	0.04379	N	0.360553	T	0.74053	0.3666	N	0.12887	0.27	0.09310	N	1	B;B;B	0.26195	0.097;0.007;0.144	B;B;B	0.37451	0.079;0.01;0.25	T	0.72057	-0.4405	10	0.09338	T	0.73	.	6.4051	0.21660	0.4104:0.1176:0.472:0.0	.	521;278;94	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	D	521;278;278	ENSP00000349790:A521D;ENSP00000315252:A278D;ENSP00000359530:A278D	ENSP00000315252:A278D	A	-	2	0	COL9A1	71021623	0.209000	0.23505	0.001000	0.08648	0.011000	0.07611	0.492000	0.22435	-0.128000	0.11641	-0.726000	0.03593	GCT		0.448	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	128	1	0	0.00198382	1	0.00198382	7	128				
ZNF407	55628	broad.mit.edu	37	18	72343750	72343750	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:72343750T>A	ENST00000299687.5	+	1	775	c.775T>A	c.(775-777)Ttg>Atg	p.L259M	ZNF407_ENST00000309902.6_Missense_Mutation_p.L259M|ZNF407_ENST00000582337.1_Missense_Mutation_p.L259M|ZNF407_ENST00000577538.1_Missense_Mutation_p.L259M	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAAACTTGTTGAATGCACA	0.413																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(775-777)Ttg>Atg		zinc finger protein 407							124.0	122.0	123.0					18																	72343750		1953	4166	6119	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343750T>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.775T>A	18.37:g.72343750T>A	ENSP00000299687:p.Leu259Met					ZNF407_ENST00000309902.6_Missense_Mutation_p.L259M|ZNF407_ENST00000577538.1_Missense_Mutation_p.L259M|ZNF407_ENST00000582337.1_Missense_Mutation_p.L259M	p.L259M	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	775	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	259					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.775T>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.363511	0.61513	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.26223	1.75;1.96	5.3	-0.232	0.13082	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.179643	0.22569	U	0.058375	T	0.52306	0.1726	M	0.90309	3.105	0.32191	N	0.579021	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.65261	-0.6211	10	0.87932	D	0	.	11.145	0.48426	0.0:0.5373:0.0:0.4627	.	259;259;259	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	M	259	ENSP00000299687:L259M;ENSP00000310359:L259M	ENSP00000299687:L259M	L	+	1	2	ZNF407	70472738	0.001000	0.12720	0.883000	0.34634	0.923000	0.55619	-0.631000	0.05496	2.137000	0.66172	0.533000	0.62120	TTG		0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		39	58	0	0	0	1	0	39	58				
PFAS	5198	broad.mit.edu	37	17	8157385	8157385	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:8157385G>A	ENST00000314666.6	+	2	263	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	44					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GTGCTACAACGTGAACTGGAC	0.602																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(130-132)Gtg>Atg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						99.0	84.0	89.0					17																	8157385		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8157385G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.130G>A	17.37:g.8157385G>A	ENSP00000313490:p.Val44Met					PFAS_ENST00000545834.1_5'UTR	p.V44M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			2	263	+			44					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.130G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702810	0.88924	.	.	ENSG00000178921	ENST00000314666	T	0.56776	0.44	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	T	0.78186	-0.2302	10	0.87932	D	0	-19.8861	16.9014	0.86114	0.0:0.0:1.0:0.0	.	44	O15067	PUR4_HUMAN	M	44	ENSP00000313490:V44M	ENSP00000313490:V44M	V	+	1	0	PFAS	8098110	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	4.831000	0.62752	2.860000	0.98153	0.655000	0.94253	GTG		0.602	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			47	63	0	0	0	1	0	47	63				
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Intron	SNP	T	T	C	rs62556589		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr9:78790136T>C	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.M664T|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1990-1992)aTg>aCg		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790136T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+91T>C	9.37:g.78790136T>C						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.M664T			Q92824	PCSK5_HUMAN			14	2503	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1991T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632416	0.00806	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.72282	-0.64	.	.	.	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.30001	-0.9993	6	0.24483	T	0.36	.	.	.	.	rs62556589	664	B1AMG5	.	T	664	ENSP00000365958:M664T	ENSP00000365958:M664T	M	+	2	0	PCSK5	77979956	0.008000	0.16893	0.036000	0.18154	0.039000	0.13416	-0.019000	0.12546	0.228000	0.21019	0.225000	0.17782	ATG		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	20	0	0	0	1	0	3	20				
OR4D9	390199	broad.mit.edu	37	11	59282485	59282485	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:59282485G>T	ENST00000329328.3	+	1	100	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCTGTTTTTGGTGTACATGAC	0.438																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(100-102)Gtg>Ttg		olfactory receptor, family 4, subfamily D, member 9							196.0	192.0	193.0					11																	59282485		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282485G>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.100G>T	11.37:g.59282485G>T	ENSP00000328563:p.Val34Leu						p.V34L	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	100	+			34					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.100G>T	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	3.162	-0.171824	0.06421	.	.	ENSG00000172742	ENST00000329328	T	0.00418	7.49	4.08	1.94	0.25998	.	0.211904	0.23153	U	0.051325	T	0.00241	0.0007	L	0.28054	0.825	0.09310	N	1	B	0.17268	0.021	B	0.21151	0.033	T	0.32587	-0.9901	10	0.21014	T	0.42	.	9.0171	0.36177	0.0:0.1603:0.6744:0.1653	.	34	Q8NGE8	OR4D9_HUMAN	L	34	ENSP00000328563:V34L	ENSP00000328563:V34L	V	+	1	0	OR4D9	59039061	0.000000	0.05858	0.150000	0.22450	0.093000	0.18481	0.015000	0.13355	0.782000	0.33613	0.591000	0.81541	GTG		0.438	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		50	101	1	0	1.47099e-08	1	1.51302e-08	50	101				
TP53	7157	broad.mit.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:7578236A>T	ENST00000269305.4	-	6	802	c.613T>A	c.(613-615)Tat>Aat	p.Y205N	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205N|TP53_ENST00000413465.2_Missense_Mutation_p.Y205N|TP53_ENST00000445888.2_Missense_Mutation_p.Y205N|TP53_ENST00000420246.2_Missense_Mutation_p.Y205N|TP53_ENST00000359597.4_Missense_Mutation_p.Y205N	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)	TCATCCAAATACTCCACACGC	0.542		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"""		48	Substitution - Missense(30)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)	haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|large_intestine(5)|endometrium(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|breast(3)|pancreas(3)|stomach(2)|lung(2)|skin(2)|urinary_tract(1)|oesophagus(1)|ovary(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.(613-615)Tat>Aat	Other conserved DNA damage response genes	tumor protein p53							136.0	121.0	126.0					17																	7578236		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.chr17:7578236A>T	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.613T>A	17.37:g.7578236A>T	ENSP00000269305:p.Tyr205Asn	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_ENST00000455263.2_Missense_Mutation_p.Y205N|TP53_ENST00000359597.4_Missense_Mutation_p.Y205N|TP53_ENST00000269305.4_Missense_Mutation_p.Y205N|TP53_ENST00000413465.2_Missense_Mutation_p.Y205N|TP53_ENST00000445888.2_Missense_Mutation_p.Y205N|TP53_ENST00000574684.1_Intron	p.Y205N	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)	6	745	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.613T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346482	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.997;0.999;0.998;0.999;0.999;0.997;0.999	D;D;D;D;D;D;D	0.79108	0.96;0.991;0.972;0.983;0.992;0.983;0.978	D	0.96416	0.9308	10	0.87932	D	0	-5.8058	13.709	0.62656	1.0:0.0:0.0:0.0	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205N;ENSP00000352610:Y205N;ENSP00000269305:Y205N;ENSP00000398846:Y205N;ENSP00000391127:Y205N;ENSP00000391478:Y205N;ENSP00000425104:Y73N;ENSP00000423862:Y112N	ENSP00000269305:Y205N	Y	-	1	0	TP53	7518961	1.000000	0.71417	0.163000	0.22734	0.042000	0.13812	7.465000	0.80898	2.183000	0.69458	0.533000	0.62120	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	6	0	0	0	1	0	46	6				
DTNA	1837	broad.mit.edu	37	18	32409007	32409007	+	Intron	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:32409007C>T	ENST00000399113.3	+	10	1094				DTNA_ENST00000595022.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.S363L|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.S366L|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000269190.7_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CATTTCAGCTCGGACGGTGCT	0.398																																						ENST00000315456.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1096-1098)tCg>tTg		dystrobrevin, alpha							200.0	183.0	189.0					18																	32409007		1887	4116	6003	SO:0001627	intron_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32409007C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1094+1367C>T	18.37:g.32409007C>T						DTNA_ENST00000399121.5_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000399113.3_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.S363L|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000601125.1_Intron	p.S366L	NM_001392.4	NP_001383.2	Q9Y4J8	DTNA_HUMAN			13	1421	+			366					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1097C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157549	0.38119	.	.	ENSG00000134769	ENST00000315456;ENST00000556176	T	0.18338	2.22	5.87	3.78	0.43462	.	.	.	.	.	T	0.13286	0.0322	.	.	.	0.80722	D	1	B;B	0.27853	0.121;0.191	B;B	0.20384	0.019;0.029	T	0.06862	-1.0803	8	0.38643	T	0.18	.	11.1424	0.48411	0.0:0.8287:0.0:0.1713	.	363;366	Q9BS59;Q9Y4J8-7	.;.	L	366;363	ENSP00000322519:S366L	ENSP00000322519:S366L	S	+	2	0	DTNA	30663005	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.010000	0.13242	1.516000	0.48900	0.650000	0.86243	TCG		0.398	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		23	28	0	0	0	1	0	23	28				
RHOBTB1	9886	broad.mit.edu	37	10	62648275	62648275	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:62648275T>G	ENST00000337910.5	-	6	1488	c.1151A>C	c.(1150-1152)gAa>gCa	p.E384A	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E384A	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	384	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GACTTGCATTTCCCTGTGCAT	0.572																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1150-1152)gAa>gCa		Rho-related BTB domain containing 1							83.0	87.0	86.0					10																	62648275		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648275T>G	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1151A>C	10.37:g.62648275T>G	ENSP00000338671:p.Glu384Ala					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E384A	p.E384A	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	1488	-	Prostate(12;0.0112)		384			BTB 1.			Missense_Mutation	SNP	ENST00000337910.5	37	c.1151A>C	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981900	0.74474	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.17054	2.3;2.3	5.95	5.95	0.96441	BTB/POZ-like (2);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.62016	1.91	0.80722	D	1	D	0.61697	0.99	D	0.63957	0.92	T	0.02751	-1.1115	10	0.28530	T	0.3	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	384	O94844	RHBT1_HUMAN	A	384	ENSP00000350595:E384A;ENSP00000338671:E384A	ENSP00000338671:E384A	E	-	2	0	RHOBTB1	62318281	1.000000	0.71417	0.920000	0.36463	0.970000	0.65996	7.527000	0.81931	2.279000	0.76181	0.533000	0.62120	GAA		0.572	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			42	1867	0	0	0	1	0	42	1867				
SLC38A6	145389	broad.mit.edu	37	14	61447758	61447758	+	5'Flank	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:61447758G>C	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|TRMT5_ENST00000261249.6_De_novo_Start_InFrame|RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000456840.2_5'Flank	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CTCCGGTACCGATCGGATGTG	0.637																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11								tRNA methyltransferase 5							13.0	18.0	17.0					14																	61447758		692	1590	2282	SO:0001631	upstream_gene_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61447758G>C	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61447758G>C	Exception_encountered					RP11-193F5.1_ENST00000553946.1_RNA		NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	0	318	-								C9JWA6|Q86SY5	Translation_Start_Site	SNP	ENST00000267488.4	37		CCDS9751.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912546	0.17907	.	.	ENSG00000126814	ENST00000553903	.	.	.	4.52	-2.15	0.07102	.	.	.	.	.	T	0.18299	0.0439	.	.	.	0.20196	N	0.999924	.	.	.	.	.	.	T	0.24512	-1.0158	4	.	.	.	.	0.9547	0.01383	0.172:0.2766:0.2689:0.2825	.	.	.	.	G	27	.	.	R	-	1	2	TRMT5	60517511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.310000	0.19356	-0.389000	0.07786	-0.293000	0.09583	CGG		0.637	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			33	26	0	0	0	1	0	33	26				
MYBPC1	4604	broad.mit.edu	37	12	102046898	102046898	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:102046898C>A	ENST00000550270.1	+	16	1564	c.1564C>A	c.(1564-1566)Cct>Act	p.P522T	MYBPC1_ENST00000392934.3_Missense_Mutation_p.P509T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P522T|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P510T|MYBPC1_ENST00000549145.1_Missense_Mutation_p.P535T|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P503T|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P496T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P508T|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P423T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P522T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	522	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTAGATCCTCCTAAGATCAT	0.413																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(1603-1605)Cct>Act		myosin binding protein C, slow type							102.0	93.0	96.0					12																	102046898		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102046898C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1564C>A	12.37:g.102046898C>A	ENSP00000449702:p.Pro522Thr					MYBPC1_ENST00000545503.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P423T|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P510T|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P503T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P508T|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P496T|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P509T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P522T	p.P535T			Q00872	MYPC1_HUMAN			17	1703	+			522			Ig-like C2-type 5.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1603C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780969	0.90282	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.71	5.71	0.89125	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000092	D	0.83128	0.5187	H	0.97103	3.94	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;0.991;1.0;1.0;0.998;1.0	D;D;D;D;D;P;D;D;D;D	0.91635	0.987;0.999;0.973;0.999;0.999;0.874;0.999;0.999;0.976;0.999	D	0.88372	0.2995	10	0.87932	D	0	.	19.8505	0.96738	0.0:1.0:0.0:0.0	.	503;510;522;522;509;496;522;522;547;547	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	T	496;522;522;522;509;508;547;535;522;547;522;503;510;547;423;522	ENSP00000448175:P496T;ENSP00000400908:P522T;ENSP00000388989:P522T;ENSP00000353822:P522T;ENSP00000376665:P509T;ENSP00000447362:P508T;ENSP00000354845:P547T;ENSP00000447660:P535T;ENSP00000447900:P522T;ENSP00000440034:P522T;ENSP00000446128:P503T;ENSP00000442847:P510T;ENSP00000354849:P547T;ENSP00000447116:P423T;ENSP00000449702:P522T	ENSP00000353822:P522T	P	+	1	0	MYBPC1	100571029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.688000	0.91661	0.655000	0.94253	CCT		0.413	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			24	18	1	0	5.45024e-15	1	6.03719e-15	24	18				
DNAJA2	10294	broad.mit.edu	37	16	46993254	46993254	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:46993254G>A	ENST00000317089.5	-	7	1067	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	284					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GCTTAAATGTGAACTGAAATC	0.368																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(850-852)ttC>ttT		DnaJ (Hsp40) homolog, subfamily A, member 2							106.0	111.0	109.0					16																	46993254		2203	4300	6503	SO:0001819	synonymous_variant	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46993254G>A	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.852C>T	16.37:g.46993254G>A							p.F284F	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			7	1067	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	284					B2R7L7|O14711	Silent	SNP	ENST00000317089.5	37	c.852C>T	CCDS10726.1																																																																																				0.368	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			45	46	0	0	0	1	0	45	46				
TMEM26	219623	broad.mit.edu	37	10	63188798	63188798	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:63188798G>T	ENST00000399298.3	-	4	859	c.491C>A	c.(490-492)cCc>cAc	p.P164H	TMEM26_ENST00000399293.1_Missense_Mutation_p.P164H	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	164						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCTCCAATGGGTAGAAGCCA	0.423																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(490-492)cCc>cAc		transmembrane protein 26							108.0	107.0	108.0					10																	63188798		1892	4117	6009	SO:0001583	missense	219623					integral to membrane		g.chr10:63188798G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.491C>A	10.37:g.63188798G>T	ENSP00000382237:p.Pro164His					TMEM26_ENST00000399293.1_Missense_Mutation_p.P164H	p.P164H	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			4	859	-	Prostate(12;0.0112)		164					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.491C>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567898	0.86439	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84547	0.5496	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86637	0.1889	9	0.87932	D	0	-23.4154	19.3644	0.94456	0.0:0.0:1.0:0.0	.	164	Q6ZUK4	TMM26_HUMAN	H	164;74;164	.	ENSP00000277749:P74H	P	-	2	0	TMEM26	62858804	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.405000	0.97313	2.596000	0.87737	0.591000	0.81541	CCC		0.423	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		25	831	1	0	1.1804e-14	1	1.28771e-14	25	831				
OBFC1	79991	broad.mit.edu	37	10	105657468	105657468	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:105657468G>A	ENST00000224950.3	-	7	758	c.591C>T	c.(589-591)ggC>ggT	p.G197G	OBFC1_ENST00000369764.1_Silent_p.G197G|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	197	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTCCAGGGCGCCTGGATTGC	0.453																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(589-591)ggC>ggT		oligonucleotide/oligosaccharide-binding fold containing 1							67.0	71.0	70.0					10																	105657468		2203	4300	6503	SO:0001819	synonymous_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105657468G>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.591C>T	10.37:g.105657468G>A						OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.G197G	p.G197G	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	7	758	-		Colorectal(252;0.178)	197					D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	37	c.591C>T	CCDS7552.1																																																																																				0.453	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		31	109	0	0	0	1	0	31	109				
GABPA	2551	broad.mit.edu	37	21	27141432	27141432	+	Silent	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr21:27141432C>T	ENST00000354828.3	+	10	1781	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	GABPA_ENST00000400075.3_Silent_p.V418V	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	418					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ACCGTTTGGTCACAGAATGTG	0.443																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(1252-1254)gtC>gtT		GA binding protein transcription factor, alpha subunit 60kDa							72.0	75.0	74.0					21																	27141432		2203	4300	6503	SO:0001819	synonymous_variant	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27141432C>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1254C>T	21.37:g.27141432C>T						GABPA_ENST00000400075.3_Silent_p.V418V	p.V418V	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			10	1781	+			418					Q12939	Silent	SNP	ENST00000354828.3	37	c.1254C>T	CCDS13575.1																																																																																				0.443	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		35	114	0	0	0	1	0	35	114				
RASGRF2	5924	broad.mit.edu	37	5	80476008	80476008	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr5:80476008G>A	ENST00000265080.4	+	18	2768	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	901					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TAACAACACCGAGAGAACATG	0.443																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2701-2703)Gag>Aag		Ras protein-specific guanine nucleotide-releasing factor 2							180.0	174.0	176.0					5																	80476008		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80476008G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2701G>A	5.37:g.80476008G>A	ENSP00000265080:p.Glu901Lys						p.E901K	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	18	2768	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	901					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2701G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203040	0.58234	.	.	ENSG00000113319	ENST00000265080	T	0.31769	1.48	5.72	5.72	0.89469	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.058300	0.64402	D	0.000003	T	0.33177	0.0854	M	0.67953	2.075	0.58432	D	0.999999	D	0.55385	0.971	B	0.39299	0.296	T	0.16041	-1.0416	10	0.21014	T	0.42	.	18.6503	0.91428	0.0:0.0:1.0:0.0	.	901	O14827	RGRF2_HUMAN	K	901	ENSP00000265080:E901K	ENSP00000265080:E901K	E	+	1	0	RASGRF2	80511764	1.000000	0.71417	0.951000	0.38953	0.134000	0.20937	9.011000	0.93618	2.704000	0.92352	0.563000	0.77884	GAG		0.443	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		22	107	0	0	0	1	0	22	107				
TBC1D25	4943	broad.mit.edu	37	X	48418348	48418348	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:48418348C>A	ENST00000376771.4	+	6	1393	c.1052C>A	c.(1051-1053)gCc>gAc	p.A351D	TBC1D25_ENST00000537536.1_Missense_Mutation_p.A97D|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	351	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.A351G(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGGGCCATGCCTTTGTTTGC	0.582																																						ENST00000376771.4																			1	Substitution - Missense(1)	p.A351G(1)	breast(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1051-1053)gCc>gAc		TBC1 domain family, member 25							48.0	32.0	38.0					X																	48418348		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418348C>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1052C>A	X.37:g.48418348C>A	ENSP00000365962:p.Ala351Asp					TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Missense_Mutation_p.A97D	p.A351D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	1393	+			351			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1052C>A	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319938	0.81469	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.10192	2.9;2.9	5.78	5.78	0.91487	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	H	0.96301	3.8	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.988;0.988;0.996	T	0.64651	-0.6357	10	0.87932	D	0	-3.8717	16.2818	0.82694	0.0:1.0:0.0:0.0	.	355;293;351	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	351;97	ENSP00000365962:A351D;ENSP00000444091:A97D	ENSP00000365962:A351D	A	+	2	0	TBC1D25	48303292	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.215000	0.77966	2.449000	0.82847	0.523000	0.50628	GCC		0.582	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		27	10	1	0	9.86323e-18	1	1.10961e-17	27	10				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			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.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	64	0	0	0	1	0	4	64				
TMEM132E	124842	broad.mit.edu	37	17	32963037	32963037	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:32963037G>A	ENST00000321639.5	+	9	2047	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	573						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGTGTCTCCGCTGACGGAGG	0.652																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1717-1719)ccG>ccA		transmembrane protein 132E							42.0	33.0	36.0					17																	32963037		2201	4298	6499	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32963037G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1719G>A	17.37:g.32963037G>A							p.P573P	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	9	2047	+			573					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.1719G>A	CCDS11283.1																																																																																				0.652	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		8	7	0	0	0	1	0	8	7				
DPY19L2	283417	broad.mit.edu	37	12	63974572	63974572	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974572G>C	ENST00000324472.4	-	19	1953	c.1770C>G	c.(1768-1770)atC>atG	p.I590M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	590					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGCCAAAGATAACCTTCT	0.373																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1768-1770)atC>atG		dpy-19-like 2 (C. elegans)							85.0	79.0	81.0					12																	63974572		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974572G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1770C>G	12.37:g.63974572G>C	ENSP00000315988:p.Ile590Met					DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	p.I590M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	19	1953	-			590					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1770C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733889	0.30684	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.55760	0.5;0.5	3.49	3.49	0.39957	.	0.181560	0.47852	D	0.000214	T	0.51007	0.1649	N	0.24115	0.695	0.25363	N	0.988769	D	0.53619	0.961	P	0.57620	0.824	T	0.41466	-0.9507	9	.	.	.	.	12.8541	0.57876	0.0:0.0:1.0:0.0	.	590	Q6NUT2	D19L2_HUMAN	M	590;37	ENSP00000315988:I590M;ENSP00000439794:I37M	.	I	-	3	3	DPY19L2	62260839	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	2.692000	0.47018	1.920000	0.55613	0.305000	0.20034	ATC		0.373	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		18	77	0	0	0	1	0	18	77				
HSPB1	3315	broad.mit.edu	37	7	75933345	75933345	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr7:75933345C>T	ENST00000248553.6	+	3	642	c.473C>T	c.(472-474)tCc>tTc	p.S158F	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	158	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)			large_intestine(1)|lung(3)	4						TCCTCCCTGTCCCCTGAGGGC	0.637																																						ENST00000248553.6																			0				large_intestine(1)|lung(3)	4						c.(472-474)tCc>tTc		heat shock 27kDa protein 1							31.0	27.0	28.0					7																	75933345		2203	4300	6503	SO:0001583	missense	3315				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding	g.chr7:75933345C>T	X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"""Heat shock proteins / HSPB"""	5246	protein-coding gene	gene with protein product		602195	"""heat shock 27kD protein 1"""			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.473C>T	7.37:g.75933345C>T	ENSP00000248553:p.Ser158Phe					HSPB1_ENST00000429938.1_5'UTR	p.S158F	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN			3	642	+			158			Interaction with TGFB1I1 (By similarity).		B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Missense_Mutation	SNP	ENST00000248553.6	37	c.473C>T	CCDS5583.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977635	0.92982	.	.	ENSG00000106211	ENST00000248553;ENST00000432276	D	0.91894	-2.93	4.65	4.65	0.58169	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.97576	0.9206	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99063	1.0831	10	0.87932	D	0	-40.5723	16.6936	0.85328	0.0:1.0:0.0:0.0	.	158	P04792	HSPB1_HUMAN	F	158;123	ENSP00000248553:S158F	ENSP00000248553:S158F	S	+	2	0	HSPB1	75771281	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.987000	0.76206	2.420000	0.82092	0.555000	0.69702	TCC		0.637	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252958.1			14	43	0	0	0	1	0	14	43				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			10	97	0	0	0	1	0	10	97				
ZFP36L1	677	broad.mit.edu	37	14	69256296	69256296	+	Nonsense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:69256296G>C	ENST00000439696.2	-	2	1272	c.971C>G	c.(970-972)tCa>tGa	p.S324*	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S324*	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	324					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGCGTCTTGAGTTGTCCAA	0.607											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(970-972)tCa>tGa		ZFP36 ring finger protein-like 1							93.0	95.0	95.0					14																	69256296		2203	4300	6503	SO:0001587	stop_gained	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256296G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.971C>G	14.37:g.69256296G>C	ENSP00000388402:p.Ser324*		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S324*|ZFP36L1_ENST00000555997.1_3'UTR	p.S324*	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1272	-			324					Q13851	Nonsense_Mutation	SNP	ENST00000439696.2	37	c.971C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	51	17.949394	0.99896	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	.	.	.	4.55	4.55	0.56014	.	0.073354	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-7.4309	17.4847	0.87684	0.0:0.0:1.0:0.0	.	.	.	.	X	324;324;307	.	ENSP00000337386:S324X	S	-	2	0	ZFP36L1	68326049	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.131000	0.71670	2.353000	0.79882	0.591000	0.81541	TCA		0.607	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			104	86	0	0	0	1	0	104	86				
BTRC	8945	broad.mit.edu	37	10	103190192	103190192	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:103190192G>A	ENST00000370187.3	+	2	257	c.139G>A	c.(139-141)Gca>Aca	p.A47T	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.A32T	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGGGACTGGCGCACTCACAGC	0.537																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(139-141)Gca>Aca		beta-transducin repeat containing E3 ubiquitin protein ligase							127.0	109.0	115.0					10																	103190192		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103190192G>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.139G>A	10.37:g.103190192G>A	ENSP00000359206:p.Ala47Thr					BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.A32T	p.A47T	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	2	257	+		Colorectal(252;0.234)	47					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.139G>A	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490280	0.64074	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000370183	T;T	0.67523	-0.25;-0.27	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	T	0.63931	0.2553	N	0.08118	0	0.45718	D	0.998622	D;D	0.76494	0.999;0.959	D;P	0.68621	0.959;0.835	T	0.61671	-0.7015	10	0.19147	T	0.46	-14.1025	15.8058	0.78506	0.0:0.0:0.8634:0.1366	.	47;47	B7Z3H4;Q9Y297	.;FBW1A_HUMAN	T	47;32;29	ENSP00000359206:A47T;ENSP00000377088:A32T	ENSP00000359202:A29T	A	+	1	0	BTRC	103180182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.246000	0.58740	2.857000	0.98124	0.650000	0.86243	GCA		0.537	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		26	42	0	0	0	1	0	26	42				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	29	0	0	0	1	0	3	29				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	rs11650484	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	68	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		T -> S. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657													g|||	3229	0.644768	0.9433	0.634	5008	,	,		18672	0.4177		0.6203	False		,,,				2504	0.5082					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(202-204)aCc>aGc		keratin associated protein 4-7							17.0	30.0	26.0					17																	39240661		691	1591	2282	SO:0001583	missense	100132476							g.chr17:39240661C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.203C>G	17.37:g.39240661C>G	ENSP00000375236:p.Thr68Ser						p.T68S	NM_033061.3	NP_149050.3					1	203	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.203C>G	CCDS45673.1	1292|1292	0.5915750915750916|0.5915750915750916	426|426	0.8658536585365854|0.8658536585365854	216|216	0.5966850828729282|0.5966850828729282	219|219	0.38286713286713286|0.38286713286713286	431|431	0.5686015831134564|0.5686015831134564	g|.	0.004|0.004	-2.356434|-2.356434	0.00217|0.00217	.|.	.|.	ENSG00000212722|ENSG00000240871	ENST00000377734|ENST00000391417	.|T	.|0.01215	.|5.16	3.78|3.78	-3.84|-3.84	0.04256|0.04256	.|.	.|4.898520	.|0.00659	.|N	.|0.000582	.|T	.|0.00012	.|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.26710	.|-1.0095	.|8	.|0.02654	.|T	.|1	.|.	3.9478|3.9478	0.09355|0.09355	0.1799:0.497:0.1974:0.1257|0.1799:0.497:0.1974:0.1257	rs11650484|rs11650484	.|68	.|Q9BYR0	.|KRA47_HUMAN	.|S	-1|68	.|ENSP00000375236:T68S	.|ENSP00000375236:T68S	.|T	+|+	.|2	.|0	KRTAP4-9|KRTAP4-7	36494187|36494187	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.039000|0.039000	0.13416|0.13416	-2.567000|-2.567000	0.00916|0.00916	-0.884000|-0.884000	0.03976|0.03976	-0.383000|-0.383000	0.06682|0.06682	.|ACC		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	72	0	0	0	1	0	4	72				
TMEM132A	54972	broad.mit.edu	37	11	60694716	60694716	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:60694716G>A	ENST00000453848.2	+	2	299	c.141G>A	c.(139-141)ccG>ccA	p.P47P	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Silent_p.P47P			Q24JP5	T132A_HUMAN	transmembrane protein 132A	47						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCTACCTGCCGGCAGCCCTGG	0.632																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(139-141)ccG>ccA		transmembrane protein 132A							58.0	65.0	63.0					11																	60694716		2203	4299	6502	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60694716G>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.141G>A	11.37:g.60694716G>A						TMEM132A_ENST00000453848.2_Silent_p.P47P	p.P47P	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			2	294	+			47					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.141G>A	CCDS44618.1																																																																																				0.632	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		31	103	0	0	0	1	0	31	103				
NRXN1	9378	broad.mit.edu	37	2	50723042	50723042	+	Splice_Site	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:50723042C>A	ENST00000406316.2	-	15	4547		c.e15+1		NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000401710.1_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000404971.1_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATGCACTTACTCTTGAGGTC	0.473																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.e16+1		neurexin 1							193.0	188.0	190.0					2																	50723042		2100	4215	6315	SO:0001630	splice_region_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50723042C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3070+1G>T	2.37:g.50723042C>A						NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000401710.1_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site		NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		16	4530	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)						A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Splice_Site	SNP	ENST00000406316.2	37		CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134030	0.56828	.	.	ENSG00000179915	ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1982	0.98246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRXN1	50576546	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	7.773000	0.85462	2.848000	0.98002	0.655000	0.94253	.		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		Intron	18	7	1	0	2.35188e-11	1	2.52739e-11	18	7				
SDHAP1	255812	broad.mit.edu	37	3	195692349	195692349	+	RNA	SNP	T	T	A	rs139762755	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr3:195692349T>A	ENST00000427841.1	-	0	2153					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CCTCCAGTGCTCCTCAAAGGG	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195692349T>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692349T>A								NR_003264.2						0	2153	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	67	0	0	0	1	0	5	67				
RP11-423O2.5	0	broad.mit.edu	37	1	142803490	142803490	+	lincRNA	SNP	T	T	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:142803490T>G	ENST00000423385.1	-	0	1475																											TTCTGTACATTTATTATTGAT	0.323																																						ENST00000423385.1																			0																																																			0							g.chr1:142803490T>G																													1.37:g.142803490T>G														0	1475	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.323	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			18	73	0	0	0	1	0	18	73				
SYCP2	10388	broad.mit.edu	37	20	58489052	58489052	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:58489052C>A	ENST00000357552.3	-	12	1033	c.808G>T	c.(808-810)Ggc>Tgc	p.G270C	SYCP2_ENST00000371001.2_Missense_Mutation_p.G270C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	270					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CCAAGCATGCCATTTACAAGG	0.299																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(808-810)Ggc>Tgc		synaptonemal complex protein 2							62.0	60.0	61.0					20																	58489052		2201	4298	6499	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58489052C>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.808G>T	20.37:g.58489052C>A	ENSP00000350162:p.Gly270Cys					SYCP2_ENST00000371001.2_Missense_Mutation_p.G270C	p.G270C			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		12	1033	-	all_lung(29;0.00344)		270					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.808G>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666143	0.67814	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04917	3.53;3.53;3.53	4.91	3.95	0.45737	.	0.201678	0.35013	N	0.003506	T	0.20740	0.0499	M	0.63428	1.95	0.40567	D	0.981269	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.00482	-1.1713	10	0.87932	D	0	-7.5976	12.9548	0.58421	0.0:0.9214:0.0:0.0786	.	270;270	A2A341;Q9BX26	.;SYCP2_HUMAN	C	270	ENSP00000360040:G270C;ENSP00000350162:G270C;ENSP00000402456:G270C	ENSP00000350162:G270C	G	-	1	0	SYCP2	57922447	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.799000	0.62517	2.430000	0.82344	0.655000	0.94253	GGC		0.299	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	10	1	0	2.74318e-10	1	2.90454e-10	10	10				
COPB1	1315	broad.mit.edu	37	11	14490350	14490350	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:14490350C>T	ENST00000249923.3	-	16	2322	c.2022G>A	c.(2020-2022)atG>atA	p.M674I	COPB1_ENST00000439561.2_Missense_Mutation_p.M674I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	674					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGTTAGTTGCATGAAGGAAA	0.398																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(2020-2022)atG>atA		coatomer protein complex, subunit beta 1							220.0	200.0	207.0					11																	14490350		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14490350C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2022G>A	11.37:g.14490350C>T	ENSP00000249923:p.Met674Ile					COPB1_ENST00000439561.2_Missense_Mutation_p.M674I	p.M674I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			16	2322	-			674					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.2022G>A	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777705	0.70107	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.41400	1.0;1.0	5.32	5.32	0.75619	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.44542	1.39	0.80722	D	1	B	0.18741	0.03	B	0.17433	0.018	T	0.19910	-1.0291	10	0.49607	T	0.09	.	18.996	0.92813	0.0:1.0:0.0:0.0	.	674	P53618	COPB_HUMAN	I	674	ENSP00000249923:M674I;ENSP00000397873:M674I	ENSP00000249923:M674I	M	-	3	0	COPB1	14446926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.535000	0.82014	2.494000	0.84150	0.650000	0.86243	ATG		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		37	147	0	0	0	1	0	37	147				
POTEF	728378	broad.mit.edu	37	2	130833004	130833004	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:130833004C>T	ENST00000409914.2	-	17	2440	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	POTEF_ENST00000357462.5_Missense_Mutation_p.E681K|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	681					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTCACACTTTCAATATCCTCC	0.398																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(2041-2043)Gaa>Aaa		POTE ankyrin domain family, member F							36.0	37.0	36.0					2																	130833004		2115	4251	6366	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130833004C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2041G>A	2.37:g.130833004C>T	ENSP00000386786:p.Glu681Lys					POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.E681K|POTEF_ENST00000360967.5_3'UTR	p.E681K			A5A3E0	POTEF_HUMAN			15	2134	-			681					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2041G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.313083	0.23908	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.13901	2.55;2.55	0.993	0.993	0.19825	.	.	.	.	.	T	0.07503	0.0189	L	0.33245	0.995	0.09310	N	0.999995	B	0.32409	0.37	B	0.17098	0.017	T	0.32955	-0.9887	9	0.22706	T	0.39	.	5.373	0.16150	0.0:1.0:0.0:0.0	.	681	A5A3E0	POTEF_HUMAN	K	681	ENSP00000350052:E681K;ENSP00000386786:E681K	ENSP00000350052:E681K	E	-	1	0	POTEF	130549474	0.037000	0.19845	0.027000	0.17364	0.026000	0.11368	1.029000	0.30140	0.847000	0.35167	0.184000	0.17185	GAA		0.398	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		35	37	0	0	0	1	0	35	37				
DPY19L2	283417	broad.mit.edu	37	12	63974520	63974520	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974520G>C	ENST00000324472.4	-	19	2005	c.1822C>G	c.(1822-1824)Caa>Gaa	p.Q608E	DPY19L2_ENST00000413230.2_Missense_Mutation_p.Q55E	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	608					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGCTCCATTGATTACGGAGG	0.373																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1822-1824)Caa>Gaa		dpy-19-like 2 (C. elegans)							74.0	73.0	73.0					12																	63974520		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974520G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1822C>G	12.37:g.63974520G>C	ENSP00000315988:p.Gln608Glu					DPY19L2_ENST00000413230.2_Missense_Mutation_p.Q55E	p.Q608E	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	19	2005	-			608					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1822C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515896	0.44763	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.53640	0.61;0.61	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.49778	1.585	0.51012	D	0.999908	P	0.50710	0.938	P	0.60415	0.874	T	0.55724	-0.8096	9	.	.	.	.	12.8541	0.57876	0.0:0.0:1.0:0.0	.	608	Q6NUT2	D19L2_HUMAN	E	608;55	ENSP00000315988:Q608E;ENSP00000439794:Q55E	.	Q	-	1	0	DPY19L2	62260787	1.000000	0.71417	0.971000	0.41717	0.609000	0.37215	8.128000	0.89595	1.920000	0.55613	0.305000	0.20034	CAA		0.373	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		15	93	0	0	0	1	0	15	93				
PI4KAP1	728233	broad.mit.edu	37	22	20385733	20385733	+	RNA	SNP	A	A	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr22:20385733A>G	ENST00000430523.3	-	0	2078					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												TACTTCAAGAACTTGATTGTC	0.537																																						ENST00000430523.3																			0																																																			0							g.chr22:20385733A>G			22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20385733A>G								NR_003563.1						0	2078	-									RNA	SNP	ENST00000430523.3	37																																																																																						0.537	PI4KAP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319534.5			3	39	0	0	0	1	0	3	39				
NAV3	89795	broad.mit.edu	37	12	78362441	78362441	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:78362441G>A	ENST00000397909.2	+	5	803	c.630G>A	c.(628-630)tcG>tcA	p.S210S	NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000266692.7_Silent_p.S210S|NAV3_ENST00000536525.2_Silent_p.S210S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	210			S -> W (in dbSNP:rs34195711).			membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCCTCCATCGGAAGCCAGCC	0.458										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(628-630)tcG>tcA		neuron navigator 3							56.0	58.0	57.0					12																	78362441		1968	4168	6136	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362441G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.630G>A	12.37:g.78362441G>A		HNSCC(70;0.22)				NAV3_ENST00000536525.2_Silent_p.S210S|NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000266692.7_Silent_p.S210S	p.S210S			Q8IVL0	NAV3_HUMAN			5	803	+			210		S -> W (in dbSNP:rs34195711).			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.630G>A		.	.	.	.	.	.	.	.	.	.	G	0.977	-0.698360	0.03279	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.85	-3.92	0.04155	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37454	-0.9705	4	.	.	.	1.0831	2.1892	0.03894	0.4335:0.0811:0.2979:0.1875	.	.	.	.	R	57	.	.	G	+	1	0	NAV3	76886572	0.481000	0.25941	0.072000	0.20136	0.008000	0.06430	0.479000	0.22228	-0.454000	0.07066	0.637000	0.83480	GGA		0.458	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		18	34	0	0	0	1	0	18	34				
SIPA1L3	23094	broad.mit.edu	37	19	38633333	38633333	+	Nonsense_Mutation	SNP	C	C	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:38633333C>G	ENST00000222345.6	+	12	4025	c.3516C>G	c.(3514-3516)taC>taG	p.Y1172*		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1172					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGTGAGATACAAGCCATCCC	0.567											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3514-3516)taC>taG		signal-induced proliferation-associated 1 like 3							155.0	150.0	151.0					19																	38633333		2203	4300	6503	SO:0001587	stop_gained	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38633333C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3516C>G	19.37:g.38633333C>G	ENSP00000222345:p.Tyr1172*		OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879		p.Y1172*	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		12	4025	+			1172					Q2TV87	Nonsense_Mutation	SNP	ENST00000222345.6	37	c.3516C>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	46	12.789490	0.99696	.	.	ENSG00000105738	ENST00000222345	.	.	.	5.06	5.06	0.68205	.	0.777035	0.12013	N	0.507646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.6971	11.4418	0.50100	0.0:0.9135:0.0:0.0865	.	.	.	.	X	1172	.	ENSP00000222345:Y1172X	Y	+	3	2	SIPA1L3	43325173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.375000	0.44283	2.622000	0.88805	0.563000	0.77884	TAC		0.567	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		322	248	0	0	0	1	0	322	248				
MYCL	4610	broad.mit.edu	37	1	40366682	40366684	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:40366682_40366684delGGC	ENST00000372816.2	-	1	870_872	c.423_425delGCC	c.(421-426)gcgccc>gcc	p.P142del	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000372815.1_In_Frame_Del_p.P172del|MYCL_ENST00000397332.2_In_Frame_Del_p.P172del|MYCL_ENST00000429311.1_In_Frame_Del_p.P142del			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	142						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGGGCGGCGGGCGCCGGGTTGC	0.749																																						ENST00000397332.2																			0											c.(511-516)gcc>gc		v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																																				SO:0001651	inframe_deletion	4610							g.chr1:40366682_40366684delGGC		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.423_425delGCC	1.37:g.40366682_40366684delGGC	ENSP00000361903:p.Pro142del					MYCL_ENST00000429311.1_In_Frame_Del_p.AP141del|MYCL_ENST00000372815.1_In_Frame_Del_p.AP171del|MYCL_ENST00000372816.2_In_Frame_Del_p.AP141del	p.AP171del	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2					2	637_639	-								A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	In_Frame_Del	DEL	ENST00000372816.2	37	c.513_515delGCC	CCDS30682.1																																																																																				0.749	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		2	4						2	4	---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76877743	76877743	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:76877743G>C	ENST00000328299.3	+	3	412	c.264G>C	c.(262-264)caG>caC	p.Q88H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	88					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACTCAGGTCAGATGGTTGGCC	0.443																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(262-264)caG>caC		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							113.0	100.0	105.0					1																	76877743		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877743G>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.264G>C	1.37:g.76877743G>C	ENSP00000329214:p.Gln88His					ST6GALNAC3_ENST00000464140.1_3'UTR	p.Q88H	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			3	412	+			88					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.264G>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389105	0.42410	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.29917	1.55	6.17	3.27	0.37495	.	0.052300	0.85682	D	0.000000	T	0.23171	0.0560	L	0.33792	1.035	0.58432	D	0.999997	D;P;D	0.89917	1.0;0.526;0.999	D;P;D	0.97110	1.0;0.557;0.997	T	0.03534	-1.1027	10	0.10902	T	0.67	-21.1283	10.6499	0.45642	0.2068:0.0:0.7932:0.0	.	23;88;88	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	H	88;88;87;22	ENSP00000329214:Q88H	ENSP00000329214:Q88H	Q	+	3	2	ST6GALNAC3	76650331	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.875000	0.48491	0.912000	0.36772	0.655000	0.94253	CAG		0.443	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		31	30	0	0	0	1	0	31	30				
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10894-10896)gtc>TCCgtc		filaggrin																																				SO:0001652	inframe_insertion	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276467_152276468insGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10894_10895insTCC	1.37:g.152276467_152276468insGGA	ENSP00000357789:p.Gln3631_Gln3632insLeu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.3631_3632insS	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10929_10930	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3631			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Ins	INS	ENST00000368799.1	37	c.10894_10895insTCC	CCDS30860.1																																																																																				0.554	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	1290						9	1290	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		8	150						8	150	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	lincRNA	DEL	CACACA	CACACA	-	rs61579002|rs398051454|rs7650195	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544																																						ENST00000497896.1																			0																																																			0							g.chr3:111197863_111197868delCACACA																													3.37:g.111197869_111197874delCACACA														0	208	-									RNA	DEL	ENST00000497896.1	37																																																																																						0.544	RP11-615J4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354056.1			4	7						4	7	---	---	---	---
ZNRF2P2	100271874	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366				MIR550A3_ENST00000390735.2_RNA	NR_024278.1				zinc and ring finger 2 pseudogene 2																		CTCTCAGATCAGTGATGCCCTG	0.485													GG|G|GG|deletion	1162	0.232029	0.3238	0.3055	5008	,	,		15903	0.0486		0.3012	False		,,,				2504	0.1738					ENST00000426767.1																			0																																																			0							g.chr7:29720482_29720483insG			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29720483_29720483dupG								NR_024278.1						0	366	-									RNA	INS	ENST00000426767.1	37																																																																																						0.485	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		12	34						12	34	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149516839	149516839	+	RNA	DEL	C	C	-	rs528618910|rs145311298	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr7:149516839delC	ENST00000378016.2	+	0	12041							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGTCCCTGGTCCTGGTGTGAC	0.697													CC|CC|C|deletion	406	0.0810703	0.2837	0.0317	5008	,	,		15514	0.0		0.007	False		,,,				2504	0.002					ENST00000378016.2																			0													SCO-spondin				831,2461		172,487,987	9.0	15.0	13.0			4.0	1.0	7	dbSNP_134	14	84,7080		18,48,3516	no	frameshift	SSPO	NM_198455.2		190,535,4503	A1A1,A1R,RR		1.1725,25.243,8.751			149516839	915,9541	1593	3760	5353			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149516839delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516839delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12041	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	1						6	1	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962494	135962494	+	RNA	DEL	C	C	-	rs371110017|rs386739105|rs386739104|rs370277311		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr9:135962494delC	ENST00000411440.2	+	0	1001					NR_001275.2				carboxyl ester lipase pseudogene																		TCTGAGGCTGCCCCCGTGTCC	0.677																																						ENST00000411440.2																			0																																																			0							g.chr9:135962494delC	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962494delC								NR_001275.2						0	1001	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		3	3						3	3	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81067245	81067245	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:81067245delC	ENST00000334512.5	+	23	3324	c.2752delC	c.(2752-2754)cccfs	p.P919fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.P72fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	919	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CATGCACGGGCCCCCCCAGCT	0.597																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2752-2754)ccfs		zinc finger, MIZ-type containing 1							58.0	59.0	59.0					10																	81067245		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81067245delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2752delC	10.37:g.81067245delC	ENSP00000334474:p.Pro919fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.P72fs	p.P919fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		23	3324	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		919			Pro-rich.		Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.2752delC	CCDS7357.1																																																																																				0.597	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	571						7	571	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		15	1209						15	1209	---	---	---	---
F2	2147	broad.mit.edu	37	11	46740793	46740794	+	Frame_Shift_Ins	INS	-	-	CGTC			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:46740793_46740794insCGTC	ENST00000311907.5	+	1	64_65	c.8_9insCGTC	c.(7-12)cacgtcfs	p.-5fs	F2_ENST00000530231.1_Frame_Shift_Ins_p.-5fs	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)						acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ACTATGGCGCACGTCCGAGGCT	0.579																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(7-9)cgtfs		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)																																			SO:0001589	frameshift_variant	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46740793_46740794insCGTC	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.9_12dupCGTC	11.37:g.46740794_46740797dupCGTC	ENSP00000308541:p.Arg5fs					F2_ENST00000530231.1_Frame_Shift_Ins_p.R3fs	p.R3fs	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	1	64_65	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	3					B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Frame_Shift_Ins	INS	ENST00000311907.5	37	c.8_9insCGTC	CCDS31476.1																																																																																				0.579	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			39	10						39	10	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		3	6						3	6	---	---	---	---
CHEK2P2	646096	broad.mit.edu	37	15	20490835	20490835	+	RNA	DEL	G	G	-	rs571472908	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr15:20490835delG	ENST00000555186.1	+	0	568					NR_038836.1				checkpoint kinase 2 pseudogene 2																		tctgcaccctgggttcaagtg	0.463													|||unknown(NO_COVERAGE)	6	0.00119808	0.0045	0.0	5008	,	,		53353	0.0		0.0	False		,,,				2504	0.0					ENST00000555186.1																			0																																																			0							g.chr15:20490835delG			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490835delG								NR_038836.1						0	568	+									RNA	DEL	ENST00000555186.1	37																																																																																						0.463	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		3	5						3	5	---	---	---	---
ANP32BP1	646791	broad.mit.edu	37	15	75614966	75614987	+	RNA	DEL	GGCGGCGCGGTCCTGGGTGGCG	GGCGGCGCGGTCCTGGGTGGCG	-	rs115991344|rs563222844	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr15:75614966_75614987delGGCGGCGCGGTCCTGGGTGGCG	ENST00000564205.1	-	0	47_68									acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1																		GGCAGAGGCCGGCGGCGCGGTCCTGGGTGGCGGGCGGCGTGG	0.577														602	0.120208	0.1452	0.1225	5008	,	,		9522	0.0298		0.2406	False		,,,				2504	0.0542					ENST00000564205.1																			0																																																			0							g.chr15:75614966_75614987delGGCGGCGCGGTCCTGGGTGGCG			15q24.2	2014-02-12			ENSG00000259790	ENSG00000259790			24267	pseudogene	pseudogene							Standard	NG_022900		Approved				OTTHUMG00000172674		15.37:g.75614966_75614987delGGCGGCGCGGTCCTGGGTGGCG														0	47_68	-									RNA	DEL	ENST00000564205.1	37																																																																																						0.577	ANP32BP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419801.1			2	4						2	4	---	---	---	---
CTB-91J4.1	0	broad.mit.edu	37	17	34445620	34445621	+	RNA	INS	-	-	G	rs33995196|rs28562329|rs8065215|rs111809256		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:34445620_34445621insG	ENST00000592460.1	+	0	41																											TGCCCCCCACCCCCCCACCCCC	0.609																																						ENST00000592460.1																			0																																																			0							g.chr17:34445620_34445621insG																													17.37:g.34445620_34445621insG														0	41	+									RNA	INS	ENST00000592460.1	37																																																																																						0.609	CTB-91J4.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000450617.1			4	9						4	9	---	---	---	---
WFDC8	90199	broad.mit.edu	37	20	44180764	44180764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:44180764delG	ENST00000357199.4	-	6	705	c.627delC	c.(625-627)accfs	p.T209fs	WFDC8_ENST00000289953.2_Frame_Shift_Del_p.T209fs	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	209	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TATCAATCTTGGTACATAGCA	0.433																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(625-627)acfs		WAP four-disulfide core domain 8							133.0	115.0	121.0					20																	44180764		2203	4300	6503	SO:0001589	frameshift_variant	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44180764delG	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.627delC	20.37:g.44180764delG	ENSP00000361735:p.Thr209fs					WFDC8_ENST00000289953.2_Frame_Shift_Del_p.T209fs	p.T209fs	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN			6	705	-		Myeloproliferative disorder(115;0.0122)	209			WAP 3.		E1P623|Q5TDV2|Q96A34	Frame_Shift_Del	DEL	ENST00000357199.4	37	c.627delC	CCDS13361.1																																																																																				0.433	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			56	68						56	68	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442|rs72026364		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411														797	0.211126	0.1422	0.1383	3775	,	,		11957	0.2083		0.161	False		,,,				2504	0.1442					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165595_50165596insAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165604_50165605dupAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		6	4						6	4	---	---	---	---
