#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
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		6	173	0	0	0	1	0	6	173				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	284802							g.chr20:29614328G>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.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	36	0	0	0	1	0	3	36				
TSPAN32	10077	broad.mit.edu	37	11	2337870	2337870	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:2337870G>A	ENST00000182290.4	+	8	829	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TSPAN32_ENST00000381121.3_Missense_Mutation_p.R231H|TSPAN32_ENST00000451520.2_Missense_Mutation_p.R220H	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	231					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGCTTGGACCGCAAGGGCAAA	0.667																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(691-693)cGc>cAc		tetraspanin 32							104.0	84.0	91.0					11																	2337870		2202	4299	6501	SO:0001583	missense	10077				cell-cell signaling	integral to membrane		g.chr11:2337870G>A	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.692G>A	11.37:g.2337870G>A	ENSP00000182290:p.Arg231His					TSPAN32_ENST00000451520.2_Missense_Mutation_p.R220H|TSPAN32_ENST00000381121.3_Missense_Mutation_p.R231H	p.R231H	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	8	829	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	231					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	c.692G>A	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	.	6.379	0.437944	0.12104	.	.	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000444307;ENST00000381117	T;T;T	0.58060	0.36;0.43;0.36	3.5	1.46	0.22682	.	0.164071	0.25456	N	0.030558	T	0.42314	0.1197	L	0.27053	0.805	0.22811	N	0.998708	P;P;D;P	0.67145	0.885;0.675;0.996;0.546	B;B;P;B	0.50537	0.178;0.1;0.643;0.046	T	0.31364	-0.9946	10	0.72032	D	0.01	-11.426	5.5797	0.17243	0.2981:0.0:0.7019:0.0	.	220;176;231;231	D3YTD1;G3XAG6;Q96QS1-3;Q96QS1	.;.;.;TSN32_HUMAN	H	231;231;220;167;176	ENSP00000182290:R231H;ENSP00000370513:R231H;ENSP00000405205:R220H	ENSP00000182290:R231H	R	+	2	0	TSPAN32	2294446	0.019000	0.18553	0.262000	0.24481	0.051000	0.14879	0.621000	0.24418	0.114000	0.18032	0.313000	0.20887	CGC		0.667	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		4	81	0	0	0	1	0	4	81				
LETM1	3954	broad.mit.edu	37	4	1816225	1816225	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr4:1816225T>C	ENST00000302787.2	-	14	2442	c.2146A>G	c.(2146-2148)Aaa>Gaa	p.K716E		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	716					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ttctcctCTTTTTCCAGTGTT	0.542																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(2146-2148)Aaa>Gaa		leucine zipper-EF-hand containing transmembrane protein 1							190.0	151.0	164.0					4																	1816225		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1816225T>C	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.2146A>G	4.37:g.1816225T>C	ENSP00000305653:p.Lys716Glu						p.K716E	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		14	2442	-			716					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.2146A>G	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	t	18.58	3.655309	0.67472	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.84	4.84	0.62591	.	0.067076	0.64402	D	0.000020	T	0.80019	0.4547	M	0.85041	2.73	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.83543	0.0097	9	0.72032	D	0.01	-34.7907	13.4106	0.60940	0.0:0.0:0.0:1.0	.	716	O95202	LETM1_HUMAN	E	716	.	ENSP00000305653:K716E	K	-	1	0	LETM1	1786023	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.486000	0.66856	1.809000	0.52856	0.533000	0.62120	AAA		0.542	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			4	32	0	0	0	1	0	4	32				
P2RY6	5031	broad.mit.edu	37	11	73008374	73008374	+	Missense_Mutation	SNP	G	G	A	rs200512829		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:73008374G>A	ENST00000393590.2	+	2	1110	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	P2RY6_ENST00000542092.1_Missense_Mutation_p.V271I|P2RY6_ENST00000538328.1_Missense_Mutation_p.V271I|P2RY6_ENST00000349767.2_Missense_Mutation_p.V271I|P2RY6_ENST00000540342.1_Missense_Mutation_p.V271I|P2RY6_ENST00000393591.1_Missense_Mutation_p.V271I|P2RY6_ENST00000540124.1_Missense_Mutation_p.V271I|P2RY6_ENST00000393592.2_Missense_Mutation_p.V271I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	271					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GACGCCGGGCGTCCCCTGCAC	0.627																																						ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(811-813)Gtc>Atc		pyrimidinergic receptor P2Y, G-protein coupled, 6							64.0	63.0	63.0					11																	73008374		2200	4291	6491	SO:0001583	missense	5031				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008374G>A		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.811G>A	11.37:g.73008374G>A	ENSP00000377215:p.Val271Ile					P2RY6_ENST00000540342.1_Missense_Mutation_p.V271I|P2RY6_ENST00000542092.1_Missense_Mutation_p.V271I|P2RY6_ENST00000540124.1_Missense_Mutation_p.V271I|P2RY6_ENST00000538328.1_Missense_Mutation_p.V271I|P2RY6_ENST00000393592.2_Missense_Mutation_p.V271I|P2RY6_ENST00000393591.1_Missense_Mutation_p.V271I|P2RY6_ENST00000349767.2_Missense_Mutation_p.V271I	p.V271I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	1110	+			271					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.811G>A	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	8.272	0.813678	0.16537	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.81	0.764	0.18465	GPCR, rhodopsin-like superfamily (1);	0.299060	0.30126	N	0.010348	T	0.46964	0.1420	L	0.40543	1.245	0.09310	N	1	B	0.28419	0.211	B	0.22601	0.04	T	0.19321	-1.0309	10	0.25751	T	0.34	.	3.8738	0.09048	0.1431:0.3479:0.3903:0.1187	.	271	Q15077	P2RY6_HUMAN	I	271	ENSP00000443427:V271I;ENSP00000445652:V271I;ENSP00000309771:V271I;ENSP00000377217:V271I;ENSP00000377216:V271I;ENSP00000442551:V271I;ENSP00000377215:V271I;ENSP00000442990:V271I	ENSP00000309771:V271I	V	+	1	0	P2RY6	72686022	0.117000	0.22190	0.010000	0.14722	0.321000	0.28281	1.125000	0.31332	0.051000	0.15978	0.655000	0.94253	GTC		0.627	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			5	79	0	0	0	1	0	5	79				
LTBP2	4053	broad.mit.edu	37	14	74968293	74968293	+	Splice_Site	SNP	T	T	G			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr14:74968293T>G	ENST00000261978.4	-	35	5557	c.5171A>C	c.(5170-5172)gAg>gCg	p.E1724A	LTBP2_ENST00000556690.1_Splice_Site_p.E1680A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1724					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTGGGGGCTCTGGGAGGAG	0.647											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.e35-1		latent transforming growth factor beta binding protein 2							29.0	34.0	32.0					14																	74968293		2202	4300	6502	SO:0001630	splice_region_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74968293T>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5171-1A>C	14.37:g.74968293T>G			OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	LTBP2_ENST00000556690.1_Splice_Site_p.E1680_splice	p.E1724_splice	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	35	5557	-			1724					Q99907|Q9NS51	Splice_Site	SNP	ENST00000261978.4	37	c.5170_splice	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524974	0.44969	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78707	-1.2;-1.2	5.25	4.1	0.47936	.	0.344490	0.20717	N	0.086981	T	0.55752	0.1940	N	0.24115	0.695	0.37527	D	0.917789	B	0.21905	0.062	B	0.21151	0.033	T	0.51371	-0.8714	10	0.06757	T	0.87	.	4.1676	0.10313	0.0:0.1916:0.0:0.8084	.	1724	Q14767	LTBP2_HUMAN	A	1724;1680	ENSP00000261978:E1724A;ENSP00000451477:E1680A	ENSP00000261978:E1724A	E	-	2	0	LTBP2	74038046	0.697000	0.27767	0.900000	0.35374	0.186000	0.23388	0.947000	0.29082	2.204000	0.70986	0.528000	0.53228	GAG		0.647	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	Missense_Mutation	4	39	0	0	0	1	0	4	39				
BCOR	54880	broad.mit.edu	37	X	39937137	39937137	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chrX:39937137T>G	ENST00000378444.4	-	2	274	c.46A>C	c.(46-48)Aac>Cac	p.N16H	BCOR_ENST00000378455.4_Missense_Mutation_p.N16H|BCOR_ENST00000342274.4_Missense_Mutation_p.N16H|BCOR_ENST00000397354.3_Missense_Mutation_p.N16H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	16					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTCTCGCTGTTCATCCAGCTG	0.592			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(46-48)Aac>Cac		BCL6 corepressor							110.0	86.0	94.0					X																	39937137		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39937137T>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.46A>C	X.37:g.39937137T>G	ENSP00000367705:p.Asn16His					BCOR_ENST00000378455.4_Missense_Mutation_p.N16H|BCOR_ENST00000397354.3_Missense_Mutation_p.N16H|BCOR_ENST00000378444.4_Missense_Mutation_p.N16H	p.N16H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			2	408	-			16					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.46A>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043311	0.75732	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952	T;T;T;T	0.44881	0.93;0.91;0.96;0.91	5.51	5.51	0.81932	.	.	.	.	.	T	0.40196	0.1107	N	0.14661	0.345	0.35536	D	0.802633	P;D;D;P	0.56521	0.883;0.976;0.96;0.951	P;P;P;P	0.55785	0.632;0.784;0.613;0.632	T	0.50634	-0.8805	8	.	.	.	-20.01	14.6304	0.68653	0.0:0.0:0.0:1.0	.	16;16;16;16	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	H	16	ENSP00000367716:N16H;ENSP00000380512:N16H;ENSP00000367705:N16H;ENSP00000345923:N16H	.	N	-	1	0	BCOR	39822081	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.833000	0.69349	1.835000	0.53391	0.417000	0.27973	AAC		0.592	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		37	16	0	0	0	1	0	37	16				
CACNA1A	773	broad.mit.edu	37	19	13341013	13341013	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr19:13341013A>C	ENST00000360228.5	-	36	5410	c.5411T>G	c.(5410-5412)cTc>cGc	p.L1804R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805R|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1805					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGACAAAGAGATTCAGCAT	0.577																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5410-5412)cTc>cGc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						80.0	88.0	85.0					19																	13341013		2073	4228	6301	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13341013A>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5411T>G	19.37:g.13341013A>C	ENSP00000353362:p.Leu1804Arg					CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805R	p.L1804R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		36	5410	-			1805					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5411T>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041512	0.55003	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.99292	-5.7	4.33	4.33	0.51752	Ion transport (1);	0.000000	0.64402	D	0.000017	D	0.99708	0.9888	H	0.99642	4.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.97092	0.9791	10	0.87932	D	0	.	12.4815	0.55844	1.0:0.0:0.0:0.0	.	1805;1810;1804;1805	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	R	1804;1810;1805;1805	ENSP00000353362:L1804R	ENSP00000317661:L1805R	L	-	2	0	CACNA1A	13202013	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.238000	0.95380	1.601000	0.50113	0.448000	0.29417	CTC		0.577	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		12	19	0	0	0	1	0	12	19				
DNM1P47	100216544	broad.mit.edu	37	15	102304896	102304896	+	RNA	SNP	C	C	G			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr15:102304896C>G	ENST00000561463.1	+	0	12942									DNM1 pseudogene 47																		GAAGACACTCCTGGAGGAGTC	0.562																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304896C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304896C>G														0	12942	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	19	0	0	0	1	0	3	19				
AKAP11	11215	broad.mit.edu	37	13	42876661	42876661	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr13:42876661C>T	ENST00000025301.2	+	8	3954	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1260					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCAATTTTGCGGGTGATCTG	0.368																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(3778-3780)gCg>gTg		A kinase (PRKA) anchor protein 11							68.0	71.0	70.0					13																	42876661		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876661C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3779C>T	13.37:g.42876661C>T	ENSP00000025301:p.Ala1260Val						p.A1260V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3954	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1260					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3779C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523180	0.85600	.	.	ENSG00000023516	ENST00000025301	T	0.60040	0.22	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.76828	0.4042	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77469	-0.2576	10	0.59425	D	0.04	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	1260	Q9UKA4	AKA11_HUMAN	V	1260	ENSP00000025301:A1260V	ENSP00000025301:A1260V	A	+	2	0	AKAP11	41774661	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.456000	0.80751	2.639000	0.89480	0.655000	0.94253	GCG		0.368	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		4	122	0	0	0	1	0	4	122				
LOC101927209	101927209	broad.mit.edu	37	1	142713956	142713956	+	lincRNA	SNP	G	G	A	rs12161184		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr1:142713956G>A	ENST00000610091.1	-	0	1702																											AAGTTAAAGAGTAACCTGCAC	0.308																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713956G>A																													1.37:g.142713956G>A														0	649	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	32	0	0	0	1	0	3	32				
ONECUT1	3175	broad.mit.edu	37	15	53081412	53081412	+	Missense_Mutation	SNP	C	C	T	rs550465203		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr15:53081412C>T	ENST00000305901.5	-	1	797	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	224					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCGAGCATGGCCGGGTGGTGG	0.701													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14904	0.0		0.0	False		,,,				2504	0.0					ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(670-672)Gcc>Acc		one cut homeobox 1							32.0	42.0	38.0					15																	53081412		2185	4285	6470	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081412C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.670G>A	15.37:g.53081412C>T	ENSP00000302630:p.Ala224Thr					ONECUT1_ENST00000561401.2_Intron	p.A224T	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	797	-			224					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.670G>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809486	0.50421	.	.	ENSG00000169856	ENST00000305901	T	0.50813	0.73	4.65	3.71	0.42584	.	0.120372	0.56097	D	0.000036	T	0.38558	0.1045	L	0.46741	1.465	0.80722	D	1	P	0.37781	0.608	B	0.31614	0.133	T	0.36529	-0.9744	10	0.52906	T	0.07	-12.7366	13.4303	0.61051	0.0:0.8409:0.1591:0.0	.	224	Q9UBC0	HNF6_HUMAN	T	224	ENSP00000302630:A224T	ENSP00000302630:A224T	A	-	1	0	ONECUT1	50868704	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.456000	0.80751	1.129000	0.42072	0.609000	0.83330	GCC		0.701	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			7	74	0	0	0	1	0	7	74				
USP32	84669	broad.mit.edu	37	17	58257980	58257980	+	Missense_Mutation	SNP	C	C	T	rs17405746		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr17:58257980C>T	ENST00000300896.4	-	33	4761	c.4567G>A	c.(4567-4569)Ggt>Agt	p.G1523S	USP32_ENST00000592339.1_Missense_Mutation_p.G1193S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1523	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGCCCCCACCCAGAATTCCT	0.443																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4567-4569)Ggt>Agt		ubiquitin specific peptidase 32							119.0	105.0	110.0					17																	58257980		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58257980C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4567G>A	17.37:g.58257980C>T	ENSP00000300896:p.Gly1523Ser					USP32_ENST00000592339.1_Missense_Mutation_p.G1193S	p.G1523S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		33	4761	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1523					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4567G>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.414921	0.96092	.	.	ENSG00000170832	ENST00000300896	T	0.27890	1.64	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52801	-0.8527	10	0.42905	T	0.14	.	18.852	0.92235	0.0:1.0:0.0:0.0	rs17405746	1523	Q8NFA0	UBP32_HUMAN	S	1523	ENSP00000300896:G1523S	ENSP00000300896:G1523S	G	-	1	0	USP32	55612762	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.780000	0.85658	2.690000	0.91761	0.650000	0.86243	GGT		0.443	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		4	134	0	0	0	1	0	4	134				
CCDC86	79080	broad.mit.edu	37	11	60615402	60615402	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:60615402C>T	ENST00000227520.5	+	2	818	c.764C>T	c.(763-765)tCc>tTc	p.S255F	CCDC86_ENST00000545580.1_5'UTR|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	255					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						TTCAGATTCTCCCAGATGCTT	0.617																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(763-765)tCc>tTc		coiled-coil domain containing 86							115.0	110.0	112.0					11																	60615402		2203	4299	6502	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60615402C>T	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.764C>T	11.37:g.60615402C>T	ENSP00000227520:p.Ser255Phe					RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_5'UTR	p.S255F	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			2	818	+			255					B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.764C>T	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365140	0.61513	.	.	ENSG00000110104	ENST00000227520	T	0.56941	0.43	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77482	-0.2571	10	0.66056	D	0.02	-16.0285	15.8625	0.79035	0.0:1.0:0.0:0.0	.	255	Q9H6F5	CCD86_HUMAN	F	255	ENSP00000227520:S255F	ENSP00000227520:S255F	S	+	2	0	CCDC86	60371978	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	5.249000	0.65427	2.464000	0.83262	0.591000	0.81541	TCC		0.617	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		15	192	0	0	0	1	0	15	192				
ASPH	444	broad.mit.edu	37	8	62596684	62596684	+	Missense_Mutation	SNP	G	G	A	rs149440176		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr8:62596684G>A	ENST00000379454.4	-	2	354	c.167C>T	c.(166-168)aCg>aTg	p.T56M	ASPH_ENST00000445642.3_Missense_Mutation_p.T27M|ASPH_ENST00000517847.2_Missense_Mutation_p.T27M|ASPH_ENST00000522835.1_Missense_Mutation_p.T27M|ASPH_ENST00000522603.1_Missense_Mutation_p.T27M|ASPH_ENST00000541428.1_Missense_Mutation_p.T27M|ASPH_ENST00000379449.6_Missense_Mutation_p.T56M|ASPH_ENST00000518068.1_Missense_Mutation_p.T56M|ASPH_ENST00000389204.4_Missense_Mutation_p.T27M|ASPH_ENST00000517856.1_Missense_Mutation_p.T56M|ASPH_ENST00000517661.1_Missense_Mutation_p.T27M|ASPH_ENST00000356457.5_Missense_Mutation_p.T56M|ASPH_ENST00000517903.1_Missense_Mutation_p.T27M	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	56					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATAAACCACGTGAAGAATGA	0.403																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(79-81)aCg>aTg		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	173.0	150.0	158.0		80,80,80,80,167,167,167,167,80,167,80,80	6.1	1.0	8	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	ASPH	NM_001164750.1,NM_001164751.1,NM_001164752.1,NM_001164753.1,NM_001164754.1,NM_001164755.1,NM_001164756.1,NM_004318.3,NM_020164.4,NM_032466.3,NM_032467.3,NM_032468.4	81,81,81,81,81,81,81,81,81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	27/730,27/299,27/280,27/257,56/295,56/271,56/204,56/759,27/226,56/314,27/211,27/300	62596684	1,13005	2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62596684G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.167C>T	8.37:g.62596684G>A	ENSP00000368767:p.Thr56Met					ASPH_ENST00000517847.2_Missense_Mutation_p.T27M|ASPH_ENST00000517661.1_Missense_Mutation_p.T27M|ASPH_ENST00000445642.3_Missense_Mutation_p.T27M|ASPH_ENST00000379454.4_Missense_Mutation_p.T56M|ASPH_ENST00000379449.6_Missense_Mutation_p.T56M|ASPH_ENST00000356457.5_Missense_Mutation_p.T56M|ASPH_ENST00000522603.1_Missense_Mutation_p.T27M|ASPH_ENST00000517903.1_Missense_Mutation_p.T27M|ASPH_ENST00000517856.1_Missense_Mutation_p.T56M|ASPH_ENST00000389204.4_Missense_Mutation_p.T27M|ASPH_ENST00000522835.1_Missense_Mutation_p.T27M|ASPH_ENST00000518068.1_Missense_Mutation_p.T56M	p.T27M	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			2	240	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	56			Ser-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.80C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845199	0.91197	0.0	1.16E-4	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306;ENST00000517856;ENST00000389204;ENST00000522603;ENST00000379449;ENST00000517661	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	6.07	6.07	0.98685	Aspartyl beta-hydroxylase/Triadin domain (1);	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	T	0.78846	-0.2043	10	0.87932	D	0	-15.3117	20.6593	0.99626	0.0:0.0:1.0:0.0	.	27;27;56;27;27;27;27;56;56;56;56;56;27;56	Q12797-4;Q12797-3;B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;E5RG56;Q6NXR7;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;.;.;.;.;ASPH_HUMAN	M	56;27;56;27;56;56;56;27;27;27;27;27;56;27;27;56;27	ENSP00000437864:T27M;ENSP00000368767:T56M;ENSP00000429718:T27M;ENSP00000348841:T56M;ENSP00000427823:T56M;ENSP00000429286:T56M;ENSP00000430245:T27M;ENSP00000394013:T27M;ENSP00000429954:T27M;ENSP00000429160:T27M;ENSP00000427877:T27M;ENSP00000429743:T56M;ENSP00000373856:T27M;ENSP00000436188:T27M;ENSP00000368762:T56M;ENSP00000428060:T27M	ENSP00000348841:T56M	T	-	2	0	ASPH	62759238	1.000000	0.71417	0.971000	0.41717	0.833000	0.47200	9.242000	0.95408	2.885000	0.99019	0.655000	0.94253	ACG		0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		9	113	0	0	0	1	0	9	113				
STIM2	57620	broad.mit.edu	37	4	27024340	27024340	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr4:27024340G>A	ENST00000467087.1	+	12	2491	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000382009.3_Missense_Mutation_p.G750S|STIM2_ENST00000237364.5_Missense_Mutation_p.G742S|STIM2_ENST00000465503.1_Missense_Mutation_p.G663S|STIM2_ENST00000467011.1_3'UTR			Q9P246	STIM2_HUMAN	stromal interaction molecule 2	655					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGACTGTGTAGGTCTGACAGA	0.483																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2248-2250)Ggt>Agt		stromal interaction molecule 2							141.0	131.0	134.0					4																	27024340		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27024340G>A	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467087.1:c.1963G>A	4.37:g.27024340G>A	ENSP00000419073:p.Gly655Ser					STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000465503.1_Missense_Mutation_p.G663S|STIM2_ENST00000237364.5_Missense_Mutation_p.G742S|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000467087.1_Missense_Mutation_p.G655S	p.G750S	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			13	2515	+		Breast(46;0.0503)	655					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467087.1	37	c.2248G>A	CCDS3440.2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828356	0.50845	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000465503	T;T;T;T	0.76316	-0.97;-1.01;-1.01;-0.98	5.87	5.87	0.94306	.	0.195744	0.46145	D	0.000319	T	0.80874	0.4707	N	0.17082	0.46	0.80722	D	1	D;D	0.65815	0.991;0.995	P;D	0.66196	0.876;0.942	T	0.82678	-0.0338	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	750;742	E9PGD0;F5GXJ4	.;.	S	655;750;742;663	ENSP00000419073:G655S;ENSP00000371439:G750S;ENSP00000237364:G742S;ENSP00000417569:G663S	ENSP00000237364:G742S	G	+	1	0	STIM2	26633438	1.000000	0.71417	0.834000	0.33040	0.815000	0.46073	5.406000	0.66357	2.941000	0.99782	0.655000	0.94253	GGT		0.483	STIM2-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215063.2	NM_020860		4	120	0	0	0	1	0	4	120				
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(679-681)Gcc>Acc		tumor protein p63							123.0	120.0	121.0					3																	189582120		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582120G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.679G>A	3.37:g.189582120G>A	ENSP00000264731:p.Ala227Thr	HNSCC(45;0.13)				TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T	p.A227T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	768	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		227					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.679G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046830	0.93740	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.85	4.97	0.65823	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	0.99802	0.9915	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.999;0.999;0.999;0.999;0.999;1.0;0.995;1.0;0.999	D	0.96749	0.9552	9	.	.	.	-13.4834	14.4917	0.67654	0.0715:0.0:0.9285:0.0	.	48;227;227;133;133;133;133;227;227;227	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	T	227;227;227;227;227;142;133;133;133;133;48;133	ENSP00000264731:A227T;ENSP00000407144:A227T;ENSP00000317510:A227T;ENSP00000376253:A227T;ENSP00000394337:A227T;ENSP00000371495:A142T;ENSP00000346614:A133T;ENSP00000392488:A133T;ENSP00000376256:A133T;ENSP00000376254:A133T;ENSP00000387839:A48T;ENSP00000389485:A133T	.	A	+	1	0	TP63	191064814	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.013000	0.88655	2.768000	0.95171	0.655000	0.94253	GCC		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		6	76	0	0	0	1	0	6	76				
LINC00466	199899	broad.mit.edu	37	1	63728142	63728142	+	lincRNA	DEL	C	C	-			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr1:63728142delC	ENST00000455304.2	-	0	191									long intergenic non-protein coding RNA 466																		GGTTACTGATCCCAGGGCTGA	0.488																																						ENST00000455304.2																			0																																																			199899							g.chr1:63728142delC			1p31.3	2012-10-12			ENSG00000224209	ENSG00000224209		"""Long non-coding RNAs"""	27294	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_038252		Approved		uc001daw.2		OTTHUMG00000009143		1.37:g.63728142delC														0	191	-									RNA	DEL	ENST00000455304.2	37																																																																																						0.488	LINC00466-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000025337.2	NR_038252		2	4						2	4	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148802161	148802162	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr7:148802161_148802162insGA	ENST00000378061.2	-	4	933_934	c.801_802insTC	c.(799-804)gtccacfs	p.H268fs		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	268					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGCCGGTGTGGACAACCTGAT	0.619																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(799-804)gtacacfs		zinc finger protein 425																																				SO:0001589	frameshift_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802161_148802162insGA	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.800_801dupTC	7.37:g.148802162_148802163dupGA	ENSP00000367300:p.His268fs						p.VH267fs	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	933_934	-	Melanoma(164;0.15)		267					B3KPM1|Q08AG3	Frame_Shift_Ins	INS	ENST00000378061.2	37	c.801_802insTC	CCDS34773.1																																																																																				0.619	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		17	67						17	67	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32182027	32182028	+	RNA	INS	-	-	T	rs547436411|rs201605848	byFrequency	TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr16:32182027_32182028insT	ENST00000564730.1	-	0	388_389									hect domain and RLD 2 pseudogene 4																		AGACCTCCTTGTAAGAACGGCC	0.391													?|T|TT|unsure	165	0.0329473	0.0537	0.0288	5008	,	,		25491	0.0595		0.008	False		,,,				2504	0.0061					ENST00000564730.1																			0																																																			100289574							g.chr16:32182027_32182028insT			16p11.2	2014-03-18			ENSG00000230267	ENSG00000230267			4872	pseudogene	pseudogene							Standard	NR_109773		Approved	D16F37S5	uc002ecx.4		OTTHUMG00000176563		16.37:g.32182028_32182028dupT														0	388_389	-									RNA	INS	ENST00000564730.1	37																																																																																						0.391	HERC2P4-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432538.1	NR_002827		3	3						3	3	---	---	---	---
