#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
ITPR2	3709	broad.mit.edu	37	12	26628350	26628350	+	Splice_Site	SNP	A	A	C			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:26628350A>C	ENST00000381340.3	-	45	6637	c.6221T>G	c.(6220-6222)gTg>gGg	p.V2074G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2074					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATCACATCCACCTATCCAAA	0.358																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.e45-1		inositol 1,4,5-trisphosphate receptor, type 2							78.0	77.0	78.0					12																	26628350		1914	4136	6050	SO:0001630	splice_region_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26628350A>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6220-1T>G	12.37:g.26628350A>C							p.V2074_splice	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			45	6637	-	Colorectal(261;0.0847)		2074					O94773	Splice_Site	SNP	ENST00000381340.3	37	c.6219_splice	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471765	0.63737	.	.	ENSG00000123104	ENST00000381340	D	0.94417	-3.42	4.98	3.82	0.43975	.	0.061993	0.64402	N	0.000005	D	0.97005	0.9022	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96538	0.9398	10	0.52906	T	0.07	.	12.0592	0.53552	0.8558:0.1442:0.0:0.0	.	2074	Q14571	ITPR2_HUMAN	G	2074	ENSP00000370744:V2074G	ENSP00000370744:V2074G	V	-	2	0	ITPR2	26519617	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.071000	0.93980	0.907000	0.36646	-0.313000	0.08912	GTG		0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	Missense_Mutation	6	37	0	0	0	1	0	6	37				
ZBTB45	84878	broad.mit.edu	37	19	59028621	59028621	+	Silent	SNP	C	C	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:59028621C>G	ENST00000594051.1	-	2	900	c.420G>C	c.(418-420)gtG>gtC	p.V140V	ZBTB45_ENST00000354590.3_Silent_p.V140V|ZBTB45_ENST00000600990.1_Silent_p.V140V			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	140	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGGCGGGGGCACAGGGGTGG	0.701											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(418-420)gtG>gtC		zinc finger and BTB domain containing 45							6.0	8.0	8.0					19																	59028621		1874	3770	5644	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028621C>G	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.420G>C	19.37:g.59028621C>G			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000600990.1_Silent_p.V140V|ZBTB45_ENST00000354590.3_Silent_p.V140V	p.V140V			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	900	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	140			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.420G>C	CCDS12984.1																																																																																				0.701	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		5	13	0	0	0	1	0	5	13				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			374491							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	67	0	0	0	1	0	3	67				
ZNF419	79744	broad.mit.edu	37	19	58004913	58004913	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:58004913C>G	ENST00000221735.7	+	5	1174	c.988C>G	c.(988-990)Ctc>Gtc	p.L330V	ZNF419_ENST00000442920.2_Missense_Mutation_p.L317V|ZNF419_ENST00000415379.2_Missense_Mutation_p.L284V|ZNF419_ENST00000424930.2_Missense_Mutation_p.L331V|ZNF419_ENST00000354197.4_Missense_Mutation_p.L318V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.L318V|ZNF419_ENST00000347466.6_Missense_Mutation_p.L298V			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CAACTCCAGCCTCATGAAACA	0.408																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(991-993)Ctc>Gtc		zinc finger protein 419							71.0	68.0	69.0					19																	58004913		2203	4299	6502	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004913C>G	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.988C>G	19.37:g.58004913C>G	ENSP00000221735:p.Leu330Val					ZNF419_ENST00000415379.2_Missense_Mutation_p.L284V|ZNF419_ENST00000347466.6_Missense_Mutation_p.L298V|ZNF419_ENST00000442920.2_Missense_Mutation_p.L317V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.L318V|ZNF419_ENST00000221735.7_Missense_Mutation_p.L330V|ZNF419_ENST00000426954.2_Missense_Mutation_p.L318V	p.L331V	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1220	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	330					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.991C>G	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465696	0.26335	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	2.36	0.0554	0.14315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64394	0.2594	M	0.85777	2.775	0.09310	N	1	D;D;D;D;D;D;D	0.71674	0.962;0.994;0.998;0.994;0.984;0.997;0.984	D;D;D;D;P;D;P	0.79108	0.963;0.989;0.992;0.989;0.722;0.987;0.722	T	0.51332	-0.8719	9	0.87932	D	0	.	3.3297	0.07080	0.2308:0.5384:0.0:0.2308	.	284;284;317;318;331;298;330	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	V	305;331;318;318;317;331;298;284;330	ENSP00000388864:L331V;ENSP00000390916:L318V;ENSP00000346136:L318V;ENSP00000414709:L317V;ENSP00000299860:L298V;ENSP00000392129:L284V;ENSP00000221735:L330V	ENSP00000221735:L330V	L	+	1	0	ZNF419	62696725	0.000000	0.05858	0.033000	0.17914	0.719000	0.41307	0.057000	0.14279	0.289000	0.22422	0.205000	0.17691	CTC		0.408	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		30	26	0	0	0	1	0	30	26				
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:11461589A>G	ENST00000535904.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000279575.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	131	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(328-330)Tcc>Ccc		proline-rich protein BstNI subfamily 4							166.0	175.0	172.0					12																	11461589		2202	4300	6502	SO:0001583	missense	5545					extracellular region		g.chr12:11461589A>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.328T>C	12.37:g.11461589A>G	ENSP00000442834:p.Ser110Pro	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P	p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	361	-			152			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.328T>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.945176	0.00479	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04706	3.57;3.57;3.57	0.678	-1.36	0.09085	.	.	.	.	.	T	0.02380	0.0073	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	8	0.32370	T	0.25	.	.	.	.	.	110	E9PAL0	.	P	110	ENSP00000279575:S110P;ENSP00000442834:S110P;ENSP00000412740:S110P	ENSP00000279575:S110P	S	-	1	0	PRB4	11352856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.351000	0.02622	-3.181000	0.00222	-3.255000	0.00050	TCC		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		6	213	0	0	0	1	0	6	213				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	65	1	0	0.014758	1	0.014758	4	65				
NUP107	57122	broad.mit.edu	37	12	69115645	69115645	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:69115645G>A	ENST00000229179.4	+	16	1668	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	NUP107_ENST00000378905.2_Missense_Mutation_p.E295K|NUP107_ENST00000539906.1_Missense_Mutation_p.E417K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	446					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGACACCTGGGAAGACACAGT	0.438																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1336-1338)Gaa>Aaa		nucleoporin 107kDa							100.0	101.0	101.0					12																	69115645		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69115645G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1336G>A	12.37:g.69115645G>A	ENSP00000229179:p.Glu446Lys					NUP107_ENST00000378905.2_Missense_Mutation_p.E295K|NUP107_ENST00000539906.1_Missense_Mutation_p.E417K	p.E446K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		16	1668	+	Breast(13;6.25e-06)		446					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1336G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232644	0.95207	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.52905	1.665	0.80722	D	1	D;P;D	0.60575	0.988;0.771;0.988	P;P;P	0.59761	0.863;0.667;0.863	T	0.71441	-0.4592	8	.	.	.	-22.667	18.7181	0.91684	0.0:0.0:1.0:0.0	.	417;295;446	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	K	446;295;417	.	.	E	+	1	0	NUP107	67401912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.519000	0.84933	0.455000	0.32223	GAA		0.438	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		4	81	0	0	0	1	0	4	81				
KIAA0247	9766	broad.mit.edu	37	14	70170160	70170160	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr14:70170160C>T	ENST00000342745.4	+	3	483	c.170C>T	c.(169-171)cCc>cTc	p.P57L		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	57	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATCTGCCACCCCCGGCCCTGC	0.567																																						ENST00000342745.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10						c.(169-171)cCc>cTc		KIAA0247							77.0	78.0	78.0					14																	70170160		2203	4300	6503	SO:0001583	missense	9766					integral to membrane		g.chr14:70170160C>T	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.170C>T	14.37:g.70170160C>T	ENSP00000344424:p.Pro57Leu						p.P57L	NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	3	483	+			57			Sushi.			Missense_Mutation	SNP	ENST00000342745.4	37	c.170C>T	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427403	0.96131	.	.	ENSG00000100647	ENST00000342745	T	0.63744	-0.06	5.9	5.9	0.94986	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82153	-0.0598	10	0.87932	D	0	-22.1116	20.2631	0.98458	0.0:1.0:0.0:0.0	.	57	Q92537	K0247_HUMAN	L	57	ENSP00000344424:P57L	ENSP00000344424:P57L	P	+	2	0	KIAA0247	69239913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.788000	0.95919	0.655000	0.94253	CCC		0.567	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		18	66	0	0	0	1	0	18	66				
LEFTY1	10637	broad.mit.edu	37	1	226076584	226076584	+	Silent	SNP	G	G	A	rs570726921		TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr1:226076584G>A	ENST00000272134.5	-	1	262	c.183C>T	c.(181-183)taC>taT	p.Y61Y	LEFTY1_ENST00000492457.1_Intron|RP4-559A3.7_ENST00000432920.2_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	61					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCAGGGCCACGTACTGGGCCC	0.697																																						ENST00000272134.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(181-183)taC>taT		left-right determination factor 1							31.0	33.0	32.0					1																	226076584		2203	4299	6502	SO:0001819	synonymous_variant	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226076584G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.183C>T	1.37:g.226076584G>A						RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	p.Y61Y	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN			1	262	-	Breast(184;0.197)		61					B2R7U0|Q53H67|Q5TE94	Silent	SNP	ENST00000272134.5	37	c.183C>T	CCDS1548.1																																																																																				0.697	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		7	16	0	0	0	1	0	7	16				
HNRNPH1	3187	broad.mit.edu	37	5	179044053	179044053	+	Splice_Site	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105.0	102.0	103.0					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	4	101	0	0	0	1	0	4	101				
CEACAM5	1048	broad.mit.edu	37	19	42213811	42213811	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:42213811C>T	ENST00000221992.6	+	2	391	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	CEACAM5_ENST00000398599.4_Missense_Mutation_p.P93S|CEA_ENST00000598976.1_Missense_Mutation_p.P93S|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P93S|CEACAM7_ENST00000599715.1_5'Flank	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	93	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACCCCAGGGCCCGCATACAG	0.458																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(277-279)Ccc>Tcc		carcinoembryonic antigen-related cell adhesion molecule 5							196.0	201.0	199.0					19																	42213811		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213811C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.277C>T	19.37:g.42213811C>T	ENSP00000221992:p.Pro93Ser					CEACAM5_ENST00000405816.1_Missense_Mutation_p.P93S|CEA_ENST00000598976.1_Missense_Mutation_p.P93S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P93S	p.P93S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	391	+			93			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.277C>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.55|12.55	1.972683|1.972683	0.34848|0.34848	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	T|T;T	0.65732|0.01599	-0.17|4.74;4.74	2.56|2.56	-1.14|-1.14	0.09741|0.09741	.|Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.07503|0.07503	0.0189|0.0189	M|M	0.81497|0.81497	2.545|2.545	0.09310|0.09310	N|N	1|1	.|B;P;P	.|0.41188	.|0.33;0.741;0.741	.|P;P;D	.|0.63793	.|0.9;0.9;0.918	T|T	0.27020|0.27020	-1.0086|-1.0086	6|9	.|0.87932	.|D	.|0	.|.	2.9661|2.9661	0.05908|0.05908	0.0:0.4593:0.2387:0.302|0.0:0.4593:0.2387:0.302	.|.	.|93;93;93	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	V|S	89|93	ENSP00000381600:A89V|ENSP00000221992:P93S;ENSP00000385072:P93S	.|ENSP00000221992:P93S	A|P	+|+	2|1	0|0	CEACAM5|CEACAM5	46905651|46905651	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-0.360000|-0.360000	0.07622|0.07622	-0.136000|-0.136000	0.11475|0.11475	0.305000|0.305000	0.20034|0.20034	GCC|CCC		0.458	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		114	115	0	0	0	1	0	114	115				
SULT6B1	391365	broad.mit.edu	37	2	37406671	37406671	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:37406671G>T	ENST00000535679.1	-	4	458	c.459C>A	c.(457-459)caC>caA	p.H153Q	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Missense_Mutation_p.H115Q|SULT6B1_ENST00000260637.3_Missense_Mutation_p.H115Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	153						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GGACATCGTTGTGGAAATGCA	0.363																																						ENST00000535679.1																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(457-459)caC>caA		sulfotransferase family, cytosolic, 6B, member 1							144.0	136.0	139.0					2																	37406671		2203	4300	6503	SO:0001583	missense	391365					cytoplasm	sulfotransferase activity	g.chr2:37406671G>T	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.459C>A	2.37:g.37406671G>T	ENSP00000444081:p.His153Gln					SULT6B1_ENST00000407963.1_Missense_Mutation_p.H115Q|SULT6B1_ENST00000260637.3_Missense_Mutation_p.H115Q|SULT6B1_ENST00000379149.2_Intron	p.H153Q			Q6IMI4	ST6B1_HUMAN			4	458	-		all_hematologic(82;0.248)	153					B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.459C>A		.	.	.	.	.	.	.	.	.	.	G	8.898	0.955671	0.18507	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.81330	-1.48;-1.48;-1.48	4.27	1.42	0.22433	Sulfotransferase domain (1);	0.568993	0.19848	N	0.104713	T	0.67988	0.2952	L	0.42529	1.33	0.33972	D	0.646977	B	0.26363	0.147	B	0.28465	0.09	T	0.60910	-0.7169	10	0.29301	T	0.29	.	3.5799	0.07949	0.3905:0.0:0.4399:0.1696	.	153	Q6IMI4	ST6B1_HUMAN	Q	153;115;115	ENSP00000444081:H153Q;ENSP00000260637:H115Q;ENSP00000384950:H115Q	ENSP00000260637:H115Q	H	-	3	2	SULT6B1	37260175	0.998000	0.40836	1.000000	0.80357	0.796000	0.44982	0.238000	0.18004	0.176000	0.19873	-0.254000	0.11334	CAC		0.363	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		41	63	1	0	6.68952e-21	1	7.50532e-21	41	63				
OR2A2	442361	broad.mit.edu	37	7	143807200	143807200	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr7:143807200C>A	ENST00000408979.2	+	1	594	c.525C>A	c.(523-525)caC>caA	p.H175Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	175						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(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGTGAACCACCTCTTCTGTG	0.522																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(523-525)caC>caA		olfactory receptor, family 2, subfamily A, member 2							108.0	108.0	108.0					7																	143807200		1974	4162	6136	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807200C>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.525C>A	7.37:g.143807200C>A	ENSP00000386209:p.His175Gln						p.H175Q	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	594	+	Melanoma(164;0.0783)		175					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.525C>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474182	0.43942	.	.	ENSG00000221989	ENST00000408979	T	0.00137	8.68	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35378	U	0.003259	T	0.00300	0.0009	M	0.73962	2.25	0.21782	N	0.999545	B	0.30068	0.267	P	0.45712	0.491	T	0.06534	-1.0821	10	0.72032	D	0.01	-12.5259	6.5506	0.22431	0.0:0.8635:0.0:0.1365	.	175	Q6IF42	OR2A2_HUMAN	Q	175	ENSP00000386209:H175Q	ENSP00000386209:H175Q	H	+	3	2	OR2A2	143438133	0.000000	0.05858	0.997000	0.53966	0.725000	0.41563	-0.339000	0.07832	1.852000	0.53769	0.511000	0.50034	CAC		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			29	105	1	0	9.39395e-14	1	1.02886e-13	29	105				
CAPG	822	broad.mit.edu	37	2	85628999	85628999	+	Silent	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:85628999C>T	ENST00000409921.1	-	3	171	c.105G>A	c.(103-105)gcG>gcA	p.A35A	CAPG_ENST00000409724.1_Silent_p.A35A|CAPG_ENST00000409670.1_Silent_p.A35A|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000263867.4_Silent_p.A35A			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGTTCTCTTGCGCCACAGGCA	0.597																																						ENST00000263867.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(103-105)gcG>gcA		capping protein (actin filament), gelsolin-like							95.0	93.0	93.0					2																	85628999		2203	4300	6503	SO:0001819	synonymous_variant	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628999C>T	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.105G>A	2.37:g.85628999C>T						CAPG_ENST00000409921.1_Silent_p.A35A|CAPG_ENST00000409724.1_Silent_p.A35A|CAPG_ENST00000409670.1_Silent_p.A35A	p.A35A	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN			3	354	-			35					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	c.105G>A	CCDS58715.1																																																																																				0.597	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		4	129	0	0	0	1	0	4	129				
CYP2B7P	1556	broad.mit.edu	37	19	41447337	41447337	+	RNA	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:41447337C>T	ENST00000599198.1	+	0	836					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CCCAGCGCCCCCAGGGACCTC	0.557																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														1556							g.chr19:41447337C>T																													19.37:g.41447337C>T								NR_001278.1						0	836	+									RNA	SNP	ENST00000599198.1	37			.	.	.	.	.	.	.	.	.	.	C	16.53	3.147859	0.57151	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.33	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	.	.	.	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.82559	-0.0397	7	0.72032	D	0.01	.	12.5332	0.56128	0.0:1.0:0.0:0.0	.	261	B6A7R5	.	L	261	.	ENSP00000441190:P261L	P	+	2	0	AC008537.4	46139177	0.969000	0.33509	0.017000	0.16124	0.095000	0.18619	2.593000	0.46180	1.875000	0.54330	0.423000	0.28283	CCC		0.557	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			48	112	0	0	0	1	0	48	112				
ZNF773	374928	broad.mit.edu	37	19	58018415	58018415	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:58018415C>G	ENST00000282292.4	+	4	1092	c.952C>G	c.(952-954)Ctc>Gtc	p.L318V	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.L317V|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAACTCCAGCCTCATGAAACA	0.423																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(952-954)Ctc>Gtc		zinc finger protein 773							125.0	127.0	126.0					19																	58018415		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018415C>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.952C>G	19.37:g.58018415C>G	ENSP00000282292:p.Leu318Val					ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.L317V	p.L318V	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	1092	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	318					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.952C>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464810	0.26335	.	.	ENSG00000152439	ENST00000282292	T	0.52983	0.64	1.17	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66992	0.2846	M	0.86953	2.85	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.992	T	0.51764	-0.8664	9	0.72032	D	0.01	.	5.4629	0.16627	0.0:0.796:0.0:0.2039	.	317;318	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	V	318	ENSP00000282292:L318V	ENSP00000282292:L318V	L	+	1	0	ZNF773	62710227	0.000000	0.05858	0.835000	0.33067	0.911000	0.54048	-0.142000	0.10311	0.945000	0.37605	0.305000	0.20034	CTC		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		15	144	0	0	0	1	0	15	144				
FAM47C	442444	broad.mit.edu	37	X	37026997	37026997	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chrX:37026997A>C	ENST00000358047.3	+	1	566	c.514A>C	c.(514-516)Act>Cct	p.T172P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	172										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGAAGACAACTGACGAACC	0.597																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(514-516)Act>Cct		family with sequence similarity 47, member C							45.0	41.0	42.0					X																	37026997		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026997A>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.514A>C	X.37:g.37026997A>C	ENSP00000367913:p.Thr172Pro						p.T172P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	566	+			172					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.514A>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	A	9.626	1.135243	0.21123	.	.	ENSG00000198173	ENST00000358047	T	0.19394	2.15	0.502	-1.0	0.10196	.	.	.	.	.	T	0.25269	0.0614	L	0.52266	1.64	0.09310	N	1	P	0.40180	0.705	P	0.51266	0.664	T	0.24835	-1.0149	8	0.32370	T	0.25	.	.	.	.	.	172	Q5HY64	FA47C_HUMAN	P	172	ENSP00000367913:T172P	ENSP00000367913:T172P	T	+	1	0	FAM47C	36936918	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	2.260000	0.43267	-0.619000	0.05648	0.242000	0.17961	ACT		0.597	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	30	0	0	0	1	0	5	30				
WASH3P	374666	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516473G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516473G>A														0	1421	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	68	0	0	0	1	0	5	68				
PRR12	57479	broad.mit.edu	37	19	50102938	50102938	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:50102938G>A	ENST00000418929.2	+	5	4100	c.4088G>A	c.(4087-4089)tGc>tAc	p.C1363Y		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTTCACCCTGCAAGCGGCTT	0.642																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(4087-4089)tGc>tAc		proline rich 12							31.0	38.0	36.0					19																	50102938		2116	4235	6351	SO:0001583	missense	57479						DNA binding	g.chr19:50102938G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4088G>A	19.37:g.50102938G>A	ENSP00000394510:p.Cys1363Tyr						p.C1363Y	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	5	4100	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	542					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.4088G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614359	0.28712	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.56	3.49	0.39957	.	0.283923	0.25792	N	0.028276	T	0.59662	0.2210	L	0.40543	1.245	0.47862	D	0.999536	D	0.58268	0.982	P	0.53954	0.738	T	0.63404	-0.6645	9	0.62326	D	0.03	-25.6593	13.0768	0.59091	0.0:0.0:0.8377:0.1623	.	1363	Q9ULL5-3	.	Y	1363;543;543	.	ENSP00000246798:C543Y	C	+	2	0	PRR12	54794750	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	1.614000	0.36911	1.234000	0.43709	0.563000	0.77884	TGC		0.642	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	20	0	0	0	1	0	3	20				
PPP1R17	10842	broad.mit.edu	37	7	31736577	31736577	+	Splice_Site	SNP	A	A	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr7:31736577A>T	ENST00000342032.3	+	4	863		c.e4-1		PPP1R17_ENST00000409146.3_Splice_Site|PPP1R17_ENST00000498609.1_Splice_Site	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17						central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										CTAACCATGCAGGTGTGTTTT	0.373																																						ENST00000342032.3																			0											c.e4-1		protein phosphatase 1, regulatory subunit 17							83.0	82.0	82.0					7																	31736577		2203	4300	6503	SO:0001630	splice_region_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31736577A>T	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.236-1A>T	7.37:g.31736577A>T						PPP1R17_ENST00000498609.1_Splice_Site|PPP1R17_ENST00000409146.3_Splice_Site		NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			4	863	+								B4DE58|Q9UDQ0	Splice_Site	SNP	ENST00000342032.3	37		CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308453	0.60305	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7971	0.78420	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf16	31703102	1.000000	0.71417	0.991000	0.47740	0.766000	0.43426	6.036000	0.70948	2.261000	0.74972	0.460000	0.39030	.		0.373	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658	Intron	21	35	0	0	0	1	0	21	35				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	71	0	0	0	1	0	4	71				
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(280-282)Gca>Aca		pregnancy specific beta-1-glycoprotein 11							247.0	230.0	236.0					19																	43528993		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43528993C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.280G>A	19.37:g.43528993C>T	ENSP00000384995:p.Ala94Thr					PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron	p.A94T			Q9UQ72	PSG11_HUMAN			2	383	-		Prostate(69;0.00682)	94			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.280G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	9.498	1.102465	0.20632	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.66280	-0.2;-0.2	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64023	0.2561	M	0.80746	2.51	0.09310	N	1	B	0.25563	0.129	B	0.39904	0.313	T	0.63812	-0.6552	9	0.62326	D	0.03	.	2.5413	0.04726	0.0:0.4411:0.3119:0.247	.	94	Q9UQ72	PSG11_HUMAN	T	94	ENSP00000319140:A94T;ENSP00000384995:A94T	ENSP00000319140:A94T	A	-	1	0	PSG11	48220833	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.352000	0.07701	-0.979000	0.03529	-1.140000	0.01884	GCA		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		5	287	0	0	0	1	0	5	287				
SLC27A4	10999	broad.mit.edu	37	9	131118065	131118065	+	Silent	SNP	G	G	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr9:131118065G>A	ENST00000300456.4	+	12	1881	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	SLC27A4_ENST00000372870.1_Silent_p.L182L	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	588					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCCTGAGCTGCACAAAACAG	0.612																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(1762-1764)ctG>ctA		solute carrier family 27 (fatty acid transporter), member 4							85.0	73.0	77.0					9																	131118065		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131118065G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1764G>A	9.37:g.131118065G>A						SLC27A4_ENST00000372870.1_Silent_p.L182L	p.L588L	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			12	1881	+			588					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.1764G>A	CCDS6899.1																																																																																				0.612	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			4	93	0	0	0	1	0	4	93				
TIMELESS	8914	broad.mit.edu	37	12	56822781	56822781	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:56822781C>A	ENST00000553532.1	-	11	1340	c.1190G>T	c.(1189-1191)gGc>gTc	p.G397V	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.G396V					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGAAACCAGGCCTGGCCGGAA	0.537																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1186-1188)gGc>gTc		timeless circadian clock							110.0	98.0	102.0					12																	56822781		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822781C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1190G>T	12.37:g.56822781C>A	ENSP00000450607:p.Gly397Val					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G397V	p.G396V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			11	1341	-			397						Missense_Mutation	SNP	ENST00000553532.1	37	c.1187G>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881730	0.33255	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.08102	3.13;3.13	5.47	4.58	0.56647	.	0.163844	0.53938	D	0.000052	T	0.09291	0.0229	L	0.46157	1.445	0.80722	D	1	B;B	0.24132	0.098;0.059	B;B	0.32928	0.155;0.074	T	0.14476	-1.0471	10	0.41790	T	0.15	-12.5298	6.1851	0.20493	0.0:0.6657:0.1792:0.155	.	396;397	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	V	396;397	ENSP00000229201:G396V;ENSP00000450607:G397V	ENSP00000229201:G397V	G	-	2	0	TIMELESS	55109048	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	3.079000	0.50104	1.431000	0.47355	-0.321000	0.08615	GGC		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		27	25	1	0	4.22769e-11	1	4.52265e-11	27	25				
BCRP7	100133163	broad.mit.edu	37	22	18844704	18844704	+	3'UTR	SNP	T	T	C			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr22:18844704T>C	ENST00000412938.1	+	0	2954																											TGGGTTAAAATTCCGACCATG	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844704T>C																												ENST00000412938.1:c.*2951T>C	22.37:g.18844704T>C														0	2954	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	4	0	0	0	1	0	3	4				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	61	0	0	0	1	0	4	61				
CMYA5	202333	broad.mit.edu	37	5	79031172	79031172	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr5:79031172A>G	ENST00000446378.2	+	2	6615	c.6584A>G	c.(6583-6585)aAa>aGa	p.K2195R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2195					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAGATAACAAAGTTGCTGAA	0.418																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6583-6585)aAa>aGa		cardiomyopathy associated 5							83.0	82.0	82.0					5																	79031172		1874	4109	5983	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031172A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6584A>G	5.37:g.79031172A>G	ENSP00000394770:p.Lys2195Arg						p.K2195R	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6615	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2195					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6584A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	9.346	1.064169	0.20067	.	.	ENSG00000164309	ENST00000446378	T	0.20200	2.09	6.16	2.41	0.29592	.	0.576148	0.16882	N	0.195677	T	0.16599	0.0399	L	0.42245	1.32	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.19516	-1.0303	10	0.49607	T	0.09	.	6.728	0.23367	0.6339:0.2912:0.0749:0.0	.	2195	Q8N3K9	CMYA5_HUMAN	R	2195	ENSP00000394770:K2195R	ENSP00000394770:K2195R	K	+	2	0	CMYA5	79066928	0.468000	0.25839	0.306000	0.25113	0.054000	0.15201	0.923000	0.28757	0.174000	0.19809	0.528000	0.53228	AAA		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	80	0	0	0	1	0	5	80				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	10	0	0	0	1	0	3	10				
PRKAA2	5563	broad.mit.edu	37	1	57111088	57111089	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr1:57111088_57111089insG	ENST00000371244.4	+	1	94_95	c.28_29insG	c.(28-30)cggfs	p.R10fs		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	10					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GCACGACGGGCGGGTGAAGATC	0.703																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(28-30)ggtfs		protein kinase, AMP-activated, alpha 2 catalytic subunit																																				SO:0001589	frameshift_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57111088_57111089insG	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.31dupG	1.37:g.57111091_57111091dupG	ENSP00000360290:p.Arg10fs						p.G10fs	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			1	94_95	+			10					Q9H1E8|Q9UD43	Frame_Shift_Ins	INS	ENST00000371244.4	37	c.28_29insG	CCDS605.1																																																																																				0.703	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		2	4						2	4	---	---	---	---
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	lincRNA	DEL	TTTG	TTTG	-	rs141045634	byFrequency	TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451														576	0.115016	0.0318	0.1974	5008	,	,		25388	0.0982		0.169	False		,,,				2504	0.1309					ENST00000522554.1																			0																																																			0							g.chr4:185536410_185536413delTTTG																													4.37:g.185536418_185536421delTTTG														0	292	-									RNA	DEL	ENST00000522554.1	37																																																																																						0.451	RP11-242J7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374071.1			5	3						5	3	---	---	---	---
TRBV5-6	28609	broad.mit.edu	37	7	142131738	142131739	+	RNA	INS	-	-	A	rs374638413		TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr7:142131738_142131739insA	ENST00000390375.2	-	0	90									T cell receptor beta variable 5-6																		ATGAGCACAGGGACAGCCTGGA	0.579																																						ENST00000390375.2																			0																																																			28609							g.chr7:142131738_142131739insA	L36092		7q34	2012-02-07			ENSG00000211728	ENSG00000211728		"""T cell receptors / TRB locus"""	12223	other	T cell receptor gene	"""T-cell receptor beta chain V region CTL-L17 -like"""					8650574	Standard	NG_001333		Approved	TRBV56, TCRBV5S2, TCRBV5S6			OTTHUMG00000158873		7.37:g.142131738_142131739insA														0	90	-									RNA	INS	ENST00000390375.2	37																																																																																						0.579	TRBV5-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352481.1	NG_001333		8	63						8	63	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35736088	35736089	+	IGR	DEL	GA	GA	-			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr9:35736088_35736089delGA	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Frame_Shift_Del_p.E219fs	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATGGTGATTGAGATATCAAAC	0.52											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(655-657)gfs		cAMP responsive element binding protein 3																																				SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736088_35736089delGA	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736090_35736091delGA			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.E219fs	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	7	1093_1094	+	all_epithelial(49;0.167)		243			Leucine-zipper.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	c.655_656delGA	CCDS6589.1																																																																																				0.520	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		66	84						66	84	---	---	---	---
WDR73	84942	broad.mit.edu	37	15	85186877	85186894	+	In_Frame_Del	DEL	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT	-	rs370347033|rs373448317|rs11267906|rs372798651|rs199676984	byFrequency	TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT	ENST00000434634.2	-	8	1004_1021	c.944_961delATGGAACACGGAGCCAAG	c.(943-963)gatggaacacggagccaagta>gta	p.DGTRSQ315del	WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	315										cervix(1)|large_intestine(1)|lung(1)	3						AGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCG	0.509														794	0.158546	0.1399	0.1383	5008	,	,		21272	0.0843		0.2038	False		,,,				2504	0.228					ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(943-963)gta>g		WD repeat domain 73				344,3500		48,248,1626						-0.4	0.0		dbSNP_120	111	1220,6750		177,866,2942	no	coding	WDR73	NM_032856.2		225,1114,4568	A1A1,A1R,RR		15.3074,8.949,13.2385				1564,10250				SO:0001651	inframe_deletion	84942							g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.944_961delATGGAACACGGAGCCAAG	15.37:g.85186877_85186894delCTTGGCTCCGTGTTCCAT	ENSP00000387982:p.Asp315_Gln320del					WDR73_ENST00000398528.3_5'UTR	p.DGTRSQV315del	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			8	1004_1021	-			315					Q96JZ1|Q9P0B7	In_Frame_Del	DEL	ENST00000434634.2	37	c.944_961delATGGAACACGGAGCCAAG	CCDS45339.1																																																																																				0.509	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		6	9						6	9	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085531	11085533	+	RNA	DEL	AAA	AAA	-	rs376459584		TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr21:11085531_11085533delAAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaaaaccacgacca	0.596																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085531_11085533delAAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085531_11085533delAAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.596	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	4						4	4	---	---	---	---
