#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
SSX2IP	117178	broad.mit.edu	37	1	85116179	85116179	+	Silent	SNP	C	C	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr1:85116179C>T	ENST00000342203.3	-	13	1799	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	SSX2IP_ENST00000437941.2_Silent_p.S485S|SSX2IP_ENST00000370612.4_Silent_p.S512S|SSX2IP_ENST00000605755.1_Silent_p.S485S|SSX2IP_ENST00000603677.1_Silent_p.S31S	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	512					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCGGCTGCCTCGAGTGCACTA	0.413																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(1453-1455)tcG>tcA		synovial sarcoma, X breakpoint 2 interacting protein							171.0	185.0	180.0					1																	85116179		2203	4300	6503	SO:0001819	synonymous_variant	117178				cell adhesion	nucleus|protein complex		g.chr1:85116179C>T		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1536G>A	1.37:g.85116179C>T						SSX2IP_ENST00000370612.4_Silent_p.S512S|SSX2IP_ENST00000342203.3_Silent_p.S512S|SSX2IP_ENST00000605755.1_Silent_p.S485S|SSX2IP_ENST00000603677.1_Silent_p.S31S	p.S485S	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	12	1807	-			512					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Silent	SNP	ENST00000342203.3	37	c.1455G>A	CCDS699.1																																																																																				0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		7	149	0	0	0	1	0	7	149				
ZNF763	284390	broad.mit.edu	37	19	12089838	12089838	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr19:12089838C>T	ENST00000358987.3	+	4	1226	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	ZNF763_ENST00000545530.1_Missense_Mutation_p.P245S|ZNF763_ENST00000538752.1_Missense_Mutation_p.P387S|ZNF763_ENST00000590798.1_Missense_Mutation_p.P387S|ZNF763_ENST00000343949.5_Missense_Mutation_p.P370S			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGCGAAAAAACCTTATGAATG	0.398																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(1108-1110)Cct>Tct		zinc finger protein 763							88.0	95.0	92.0					19																	12089838		2177	4284	6461	SO:0001583	missense	284390							g.chr19:12089838C>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1099C>T	19.37:g.12089838C>T	ENSP00000402017:p.Pro367Ser					ZNF763_ENST00000590798.1_Missense_Mutation_p.P387S|ZNF763_ENST00000545530.1_Missense_Mutation_p.P245S|ZNF763_ENST00000538752.1_Missense_Mutation_p.P387S|ZNF763_ENST00000358987.3_Missense_Mutation_p.P367S	p.P370S	NM_001012753.1	NP_001012771.1					4	1263	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.1108C>T		.	.	.	.	.	.	.	.	.	.	c	11.92	1.783427	0.31593	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	1.41	0.239	0.15484	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48926	0.1527	M	0.69523	2.12	0.24045	N	0.996062	D;D;P	0.89917	0.994;1.0;0.952	D;D;P	0.87578	0.974;0.998;0.66	T	0.31138	-0.9954	9	0.87932	D	0	.	6.8758	0.24147	0.0:0.8324:0.0:0.1676	.	387;367;370	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	S	387;370;245;367	ENSP00000438117:P387S;ENSP00000369774:P370S;ENSP00000446166:P245S;ENSP00000402017:P367S	ENSP00000369774:P370S	P	+	1	0	ZNF763	11950838	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.701000	0.25616	-0.068000	0.12953	-1.054000	0.02325	CCT		0.398	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		52	81	0	0	0	1	0	52	81				
SIRPA	140885	broad.mit.edu	37	20	1903277	1903277	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr20:1903277C>T	ENST00000358771.4	+	4	1225	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	SIRPA_ENST00000356025.3_Missense_Mutation_p.S358L|SIRPA_ENST00000400068.3_Missense_Mutation_p.S358L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	358					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GAGCAGGGCTCAAATACCGCC	0.488																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1072-1074)tCa>tTa		signal-regulatory protein alpha							23.0	23.0	23.0					20																	1903277		2203	4299	6502	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1903277C>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1073C>T	20.37:g.1903277C>T	ENSP00000351621:p.Ser358Leu					SIRPA_ENST00000356025.3_Missense_Mutation_p.S358L|SIRPA_ENST00000400068.3_Missense_Mutation_p.S358L	p.S358L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	4	1225	+			358					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1073C>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381012	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.08984	3.03;3.03;3.03	4.65	2.71	0.32032	Immunoglobulin-like fold (1);	2.003110	0.02002	N	0.046347	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14438	0.004;0.01;0.001	B;B;B	0.17433	0.002;0.018;0.003	T	0.29274	-1.0017	10	0.54805	T	0.06	.	6.6688	0.23056	0.0:0.7982:0.0:0.2018	.	338;358;358	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	L	358	ENSP00000382941:S358L;ENSP00000348307:S358L;ENSP00000351621:S358L	ENSP00000348307:S358L	S	+	2	0	SIRPA	1851277	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	0.997000	0.29731	0.872000	0.35775	0.561000	0.74099	TCA		0.488	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	13	0	0	0	1	0	4	13				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			4	88	0	0	0	1	0	4	88				
TFDP3	51270	broad.mit.edu	37	X	132351178	132351178	+	Silent	SNP	G	G	A			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chrX:132351178G>A	ENST00000310125.4	-	1	1198	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	370					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GAGATCCACCGGAGCTTGTGG	0.572																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(1108-1110)tcC>tcT		transcription factor Dp family, member 3							103.0	101.0	102.0					X																	132351178		2203	4300	6503	SO:0001819	synonymous_variant	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351178G>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1110C>T	X.37:g.132351178G>A							p.S370S	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	1198	-	Acute lymphoblastic leukemia(192;0.000127)		370					Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	c.1110C>T	CCDS14636.2																																																																																				0.572	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		4	69	0	0	0	1	0	4	69				
USP54	159195	broad.mit.edu	37	10	75289357	75289357	+	Intron	SNP	C	C	G			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr10:75289357C>G	ENST00000339859.4	-	14	2161				USP54_ENST00000408019.1_Intron|USP54_ENST00000428547.1_Intron|USP54_ENST00000319786.7_Missense_Mutation_p.R714T|USP54_ENST00000497106.1_Intron|USP54_ENST00000394811.2_Intron|RNU6-883P_ENST00000384597.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54						ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTCCACTTGTCTCAGCCATGC	0.473											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(195;880 2046 8854 25025 38456)	ENST00000319786.7																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(2140-2142)aGa>aCa		ubiquitin specific peptidase 54																																				SO:0001627	intron_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75289357C>G	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2060+80G>C	10.37:g.75289357C>G			OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1159	USP54_ENST00000408019.1_Intron|USP54_ENST00000394811.2_Intron|USP54_ENST00000339859.4_Intron|USP54_ENST00000428547.1_Intron|USP54_ENST00000497106.1_Intron	p.R714T			Q70EL1	UBP54_HUMAN			15	2984	-	Prostate(51;0.0112)		0					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.2141G>C	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542608	0.27563	.	.	ENSG00000166348	ENST00000319786	.	.	.	4.42	-2.42	0.06542	.	.	.	.	.	T	0.26557	0.0649	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20538	-1.0272	7	0.40728	T	0.16	.	7.1897	0.25818	0.0:0.2356:0.5207:0.2437	.	714	B7Z7X1	.	T	714	.	ENSP00000326547:R714T	R	-	2	0	USP54	74959363	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.360000	0.02600	-0.431000	0.07307	-0.229000	0.12294	AGA		0.473	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		3	32	0	0	0	1	0	3	32				
KCNA10	3744	broad.mit.edu	37	1	111060344	111060344	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr1:111060344G>A	ENST00000369771.2	-	1	1453	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	356					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R356C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TTGGAGTGGCGCGAGAGCTTG	0.572																																						ENST00000369771.2																			1	Substitution - Missense(1)	p.R356C(1)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1066-1068)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 10							114.0	109.0	111.0					1																	111060344		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060344G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1066C>T	1.37:g.111060344G>A	ENSP00000358786:p.Arg356Cys						p.R356C	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1453	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	356						Missense_Mutation	SNP	ENST00000369771.2	37	c.1066C>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231119	0.58777	.	.	ENSG00000143105	ENST00000369771	D	0.98684	-5.07	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97929	1.0319	10	0.87932	D	0	.	13.2979	0.60307	0.0:0.0:0.8416:0.1583	.	356	Q16322	KCA10_HUMAN	C	356	ENSP00000358786:R356C	ENSP00000358786:R356C	R	-	1	0	KCNA10	110861867	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.964000	0.56780	2.676000	0.91093	0.558000	0.71614	CGC		0.572	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		9	98	0	0	0	1	0	9	98				
CNNM2	54805	broad.mit.edu	37	10	104678735	104678735	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr10:104678735C>A	ENST00000369878.4	+	1	686	c.498C>A	c.(496-498)aaC>aaA	p.N166K	CNNM2_ENST00000433628.2_Missense_Mutation_p.N166K|CNNM2_ENST00000369875.3_Missense_Mutation_p.N166K	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	166					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCATTCTCAACCGCCGCACCT	0.647																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(496-498)aaC>aaA		cyclin M2							127.0	139.0	135.0					10																	104678735		2202	4298	6500	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104678735C>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.498C>A	10.37:g.104678735C>A	ENSP00000358894:p.Asn166Lys					CNNM2_ENST00000433628.2_Missense_Mutation_p.N166K|CNNM2_ENST00000369875.3_Missense_Mutation_p.N166K	p.N166K	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	622	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	166					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.498C>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385709	0.42308	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.74209	-0.65;-0.82;-0.64	4.81	1.83	0.25207	.	0.222873	0.44285	D	0.000479	T	0.52451	0.1735	N	0.14661	0.345	0.41248	D	0.986695	B;B;B	0.32467	0.372;0.255;0.029	B;B;B	0.27796	0.083;0.038;0.027	T	0.46898	-0.9158	10	0.40728	T	0.16	.	9.5732	0.39440	0.0:0.7569:0.0:0.2431	.	166;166;166	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	K	166	ENSP00000392875:N166K;ENSP00000358891:N166K;ENSP00000358894:N166K	ENSP00000286899:N166K	N	+	3	2	CNNM2	104668725	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	0.808000	0.27154	0.423000	0.26033	0.561000	0.74099	AAC		0.647	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		8	165	1	0	5.18039e-06	1	5.77244e-06	8	165				
LRP1B	53353	broad.mit.edu	37	2	141253252	141253252	+	Silent	SNP	G	G	A			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr2:141253252G>A	ENST00000389484.3	-	56	9887	c.8916C>T	c.(8914-8916)tgC>tgT	p.C2972C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2972	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCTGAAGAGCATTCATCAA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8914-8916)tgC>tgT		low density lipoprotein receptor-related protein 1B							157.0	141.0	146.0					2																	141253252		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141253252G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8916C>T	2.37:g.141253252G>A		TSP Lung(27;0.18)					p.C2972C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	56	9887	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2972			EGF-like 7.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8916C>T	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	46	0	0	0	1	0	9	46				
HERC2P3	283755	broad.mit.edu	37	15	20644447	20644447	+	RNA	SNP	T	T	G			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr15:20644447T>G	ENST00000428453.1	-	0	3187							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGACGGCCACTCACCTCTGAG	0.637																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20644447T>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644447T>G														0	3187	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.637	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		8	9	0	0	0	1	0	8	9				
KNDC1	85442	broad.mit.edu	37	10	135024980	135024980	+	Silent	SNP	C	C	T	rs372197149		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr10:135024980C>T	ENST00000304613.3	+	22	3984	c.3963C>T	c.(3961-3963)tgC>tgT	p.C1321C	KNDC1_ENST00000368572.2_Silent_p.C1323C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1321	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGAGCCTCTGCGTCCTGCAGG	0.642																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3961-3963)tgC>tgT		kinase non-catalytic C-lobe domain (KIND) containing 1		C		0,4406		0,0,2203	71.0	72.0	71.0		3963	3.0	1.0	10		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KNDC1	NM_152643.6		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1321/1750	135024980	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135024980C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3963C>T	10.37:g.135024980C>T						KNDC1_ENST00000368572.2_Silent_p.C1323C	p.C1321C			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	22	3984	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1321			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3963C>T	CCDS7674.1																																																																																				0.642	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		27	45	0	0	0	1	0	27	45				
CDC27	996	broad.mit.edu	37	17	45219653	45219653	+	Silent	SNP	C	C	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:45219653C>T	ENST00000066544.3	-	11	1413	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	CDC27_ENST00000531206.1_Silent_p.G446G|CDC27_ENST00000527547.1_Silent_p.G440G|CDC27_ENST00000446365.2_Silent_p.G379G	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	440					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGGATATTTTCCCTTCTGAAA	0.313																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1318-1320)ggG>ggA		cell division cycle 27							28.0	28.0	28.0					17																	45219653		2201	4294	6495	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219653C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1320G>A	17.37:g.45219653C>T						CDC27_ENST00000527547.1_Silent_p.G440G|CDC27_ENST00000531206.1_Silent_p.G446G|CDC27_ENST00000446365.2_Silent_p.G379G	p.G440G	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1413	-			440					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1320G>A	CCDS11509.1																																																																																				0.313	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	22	0	0	0	1	0	3	22				
KCNH3	23416	broad.mit.edu	37	12	49934916	49934916	+	Splice_Site	SNP	G	G	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr12:49934916G>T	ENST00000257981.6	+	2	570		c.e2+1		KCNH3_ENST00000550434.1_Splice_Site	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGGAAGAGCGGTGAGGGGCCA	0.617																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.e2+1		potassium voltage-gated channel, subfamily H (eag-related), member 3							23.0	23.0	23.0					12																	49934916		2203	4300	6503	SO:0001630	splice_region_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49934916G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.310+1G>T	12.37:g.49934916G>T						KCNH3_ENST00000550434.1_Splice_Site		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			2	570	+								Q9UQ06	Splice_Site	SNP	ENST00000257981.6	37		CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389970	0.82902	.	.	ENSG00000135519	ENST00000257981	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3036	0.82836	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNH3	48221183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.629000	0.98417	2.808000	0.96608	0.650000	0.86243	.		0.617	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284	Intron	8	11	1	0	0.00307968	1	0.00333632	8	11				
LAMA3	3909	broad.mit.edu	37	18	21484015	21484015	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr18:21484015C>T	ENST00000313654.9	+	50	6678	c.6437C>T	c.(6436-6438)gCg>gTg	p.A2146V	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.A481V|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2090V|LAMA3_ENST00000269217.6_Missense_Mutation_p.A537V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2146	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAAAAGCACGCGCGGTCCTTA	0.522																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6436-6438)gCg>gTg		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						85.0	86.0	86.0					18																	21484015		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484015C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6437C>T	18.37:g.21484015C>T	ENSP00000324532:p.Ala2146Val					LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2090V|LAMA3_ENST00000587184.1_Missense_Mutation_p.A481V|LAMA3_ENST00000269217.6_Missense_Mutation_p.A537V	p.A2146V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			50	6678	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2146			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6437C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093482	0.76756	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.78246	1.25;-1.16;1.85	6.11	6.11	0.99139	.	.	.	.	.	D	0.88209	0.6375	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.76494	0.991;0.993;0.999;0.998	P;P;P;P	0.60415	0.454;0.536;0.874;0.802	D	0.88382	0.3002	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	481;537;2090;2146	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2146;2090;537	ENSP00000324532:A2146V;ENSP00000382432:A2090V;ENSP00000269217:A537V	ENSP00000269217:A537V	A	+	2	0	LAMA3	19738013	1.000000	0.71417	0.083000	0.20561	0.156000	0.22039	4.808000	0.62583	2.906000	0.99361	0.655000	0.94253	GCG		0.522	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	88	0	0	0	1	0	7	88				
CALCOCO1	57658	broad.mit.edu	37	12	54108441	54108441	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr12:54108441G>T	ENST00000550804.1	-	11	1483	c.1423C>A	c.(1423-1425)Ctg>Atg	p.L475M	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.L390M|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.L475M|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.L475M			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	475					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTGACCGCAGCTCTGTCAGC	0.562																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1423-1425)Ctg>Atg		calcium binding and coiled-coil domain 1							86.0	75.0	79.0					12																	54108441		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54108441G>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1423C>A	12.37:g.54108441G>T	ENSP00000449960:p.Leu475Met					CALCOCO1_ENST00000430117.2_Missense_Mutation_p.L390M|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.L475M|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.L475M	p.L475M			Q9P1Z2	CACO1_HUMAN			11	1471	-			475					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.1423C>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358817	0.61403	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.09	4.09	0.47781	.	0.000000	0.36134	N	0.002775	T	0.30823	0.0777	L	0.33668	1.02	0.46044	D	0.998838	D;D;D;D;D;D	0.76494	0.981;0.999;0.976;0.999;0.999;0.981	P;D;P;D;D;P	0.87578	0.832;0.998;0.741;0.997;0.998;0.832	T	0.00809	-1.1557	9	.	.	.	-10.3868	9.8807	0.41231	0.0977:0.0:0.9023:0.0	.	468;390;475;475;390;475	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	M	152;390;475;413;475;475;468	ENSP00000397189:L390M;ENSP00000262059:L475M;ENSP00000447647:L475M;ENSP00000449960:L475M	.	L	-	1	2	CALCOCO1	52394708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.254000	0.43214	2.560000	0.86352	0.655000	0.94253	CTG		0.562	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		4	30	1	0	0.150653	1	0.150653	4	30				
CHST11	50515	broad.mit.edu	37	12	105150943	105150943	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr12:105150943C>T	ENST00000303694.5	+	3	860	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	CHST11_ENST00000549260.1_Missense_Mutation_p.R136W	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	141					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CCTGACCGGGCGGGGGAAGTA	0.597																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(421-423)Cgg>Tgg		carbohydrate (chondroitin 4) sulfotransferase 11							65.0	66.0	65.0					12																	105150943		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150943C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.421C>T	12.37:g.105150943C>T	ENSP00000305725:p.Arg141Trp					CHST11_ENST00000549260.1_Missense_Mutation_p.R136W	p.R141W	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	860	+			141					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.421C>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864768	0.71949	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.74421	-0.84;-0.84;-0.84	5.51	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.63703	0.864;0.917	T	0.79860	-0.1625	10	0.40728	T	0.16	-11.4185	13.0884	0.59154	0.2781:0.7219:0.0:0.0	.	136;141	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	W	136;141;101	ENSP00000450004:R136W;ENSP00000305725:R141W;ENSP00000449095:R101W	ENSP00000305725:R141W	R	+	1	2	CHST11	103675073	0.936000	0.31750	0.997000	0.53966	0.998000	0.95712	2.011000	0.40922	2.600000	0.87896	0.655000	0.94253	CGG		0.597	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		6	51	0	0	0	1	0	6	51				
RPL10	6134	broad.mit.edu	37	X	153628938	153628938	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chrX:153628938G>A	ENST00000369817.2	+	7	1039	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	RPL10_ENST00000424325.2_Missense_Mutation_p.A155T|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.A104T			P27635	RL10_HUMAN	ribosomal protein L10	155					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCGCAGGGCCAAGTTCAA	0.582																																						ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(463-465)Gcc>Acc		ribosomal protein L10							126.0	118.0	121.0					X																	153628938		2203	4300	6503	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153628938G>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.463G>A	X.37:g.153628938G>A	ENSP00000358832:p.Ala155Thr					RPL10_ENST00000406022.2_Missense_Mutation_p.A104T|RPL10_ENST00000369817.2_Missense_Mutation_p.A155T	p.A155T	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			6	651	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		155					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.463G>A	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984960	0.93044	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022;ENST00000427682;ENST00000428169	T;T;T;T	0.78481	-1.17;-1.17;-1.17;-1.18	4.95	4.95	0.65309	Ribosomal protein L10e/L16 (2);	0.068766	0.56097	U	0.000030	D	0.86892	0.6042	M	0.92923	3.36	0.80722	D	1	P;P	0.42296	0.775;0.456	B;P	0.48738	0.328;0.588	D	0.89937	0.4070	10	0.72032	D	0.01	-16.2467	14.6627	0.68885	0.0:0.0:1.0:0.0	.	104;155	F8W7C6;P27635	.;RL10_HUMAN	T	155;155;155;155;104;65;65	ENSP00000358832:A155T;ENSP00000413436:A155T;ENSP00000341730:A155T;ENSP00000385621:A104T	ENSP00000341730:A155T	A	+	1	0	RPL10	153282132	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	8.853000	0.92222	2.042000	0.60477	0.600000	0.82982	GCC		0.582	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		3	42	0	0	0	1	0	3	42				
OR6Y1	391112	broad.mit.edu	37	1	158517850	158517850	+	Missense_Mutation	SNP	G	G	A	rs562799207		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr1:158517850G>A	ENST00000302617.3	-	1	45	c.46C>T	c.(46-48)Cgt>Tgt	p.R16C		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAATGAAACGTGTTGTCACT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		19831	0.0		0.0	False		,,,				2504	0.001					ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(46-48)Cgt>Tgt		olfactory receptor, family 6, subfamily Y, member 1							67.0	66.0	67.0					1																	158517850		2191	4296	6487	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517850G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.46C>T	1.37:g.158517850G>A	ENSP00000304807:p.Arg16Cys						p.R16C	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	45	-	all_hematologic(112;0.0378)		16					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.46C>T	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	9.429	1.085080	0.20390	.	.	ENSG00000197532	ENST00000302617	T	0.01092	5.35	4.65	-1.31	0.09230	.	0.526393	0.15840	N	0.242086	T	0.00210	0.0006	N	0.16368	0.405	0.19300	N	0.999972	P	0.40180	0.705	B	0.14023	0.01	T	0.51639	-0.8680	10	0.87932	D	0	.	4.2718	0.10791	0.5026:0.1806:0.3168:0.0	.	16	Q8NGX8	OR6Y1_HUMAN	C	16	ENSP00000304807:R16C	ENSP00000304807:R16C	R	-	1	0	OR6Y1	156784474	0.014000	0.17966	0.336000	0.25522	0.506000	0.33950	0.184000	0.16939	-0.024000	0.13941	-0.251000	0.11542	CGT		0.458	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		17	38	0	0	0	1	0	17	38				
TRRAP	8295	broad.mit.edu	37	7	98513418	98513418	+	Silent	SNP	T	T	C			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr7:98513418T>C	ENST00000359863.4	+	19	2481	c.2272T>C	c.(2272-2274)Ttg>Ctg	p.L758L	TRRAP_ENST00000446306.3_Silent_p.L757L|TRRAP_ENST00000355540.3_Silent_p.L758L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	758					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAACTACTTCTTGCTGCTACG	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2272-2274)Ttg>Ctg		transformation/transcription domain-associated protein							163.0	143.0	149.0					7																	98513418		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98513418T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2272T>C	7.37:g.98513418T>C						TRRAP_ENST00000355540.3_Silent_p.L758L|TRRAP_ENST00000446306.3_Silent_p.L757L	p.L758L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		19	2481	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		758					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2272T>C	CCDS59066.1																																																																																				0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	83	0	0	0	1	0	4	83				
PEAR1	375033	broad.mit.edu	37	1	156883723	156883723	+	Silent	SNP	G	G	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr1:156883723G>T	ENST00000338302.3	+	23	3018	c.2793G>T	c.(2791-2793)ctG>ctT	p.L931L	PEAR1_ENST00000292357.7_Silent_p.L931L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	931	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCGGGACCTGCCCAGCTTGC	0.617																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(2791-2793)ctG>ctT		platelet endothelial aggregation receptor 1																																				SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156883723G>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2793G>T	1.37:g.156883723G>T						PEAR1_ENST00000292357.7_Silent_p.L931L	p.L931L			Q5VY43	PEAR1_HUMAN			23	3018	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		931			Pro-rich.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.2793G>T	CCDS30892.1																																																																																				0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		3	20	1	0	0.115264	1	0.118297	3	20				
TUSC5	286753	broad.mit.edu	37	17	1183349	1183349	+	Silent	SNP	C	C	T	rs370772243		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:1183349C>T	ENST00000333813.3	+	1	393	c.54C>T	c.(52-54)gcC>gcT	p.A18A		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	18			A -> T (in dbSNP:rs111701043). {ECO:0000269|PubMed:12660825}.		response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGCTCCGCCGCATTCCTGG	0.642																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(52-54)gcC>gcT		tumor suppressor candidate 5							46.0	51.0	50.0					17																	1183349		1972	4147	6119	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1183349C>T	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.54C>T	17.37:g.1183349C>T							p.A18A	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	393	+			18		A -> T.			A6NMK4	Silent	SNP	ENST00000333813.3	37	c.54C>T	CCDS42225.1																																																																																				0.642	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		9	65	0	0	0	1	0	9	65				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	44	0	0	0	1	0	3	44				
ZNF700	90592	broad.mit.edu	37	19	12060807	12060807	+	Silent	SNP	A	A	G			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr19:12060807A>G	ENST00000254321.5	+	4	2111	c.1968A>G	c.(1966-1968)gcA>gcG	p.A656A	ZNF700_ENST00000482090.1_Silent_p.A638A|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCGAAAAAGCATTCTGTAAAT	0.418																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1912-1914)gcA>gcG		zinc finger protein 700							61.0	60.0	61.0					19																	12060807		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060807A>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1968A>G	19.37:g.12060807A>G						ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.A656A	p.A638A			Q9H0M5	ZN700_HUMAN			3	2332	+			656					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.1914A>G	CCDS32915.1																																																																																				0.418	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		6	63	0	0	0	1	0	6	63				
SLC5A5	6528	broad.mit.edu	37	19	17993012	17993012	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr19:17993012G>A	ENST00000222248.3	+	10	1573	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	409					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCACTGCTCGGAGGAGGTGTC	0.617																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1225-1227)gGa>gAa		solute carrier family 5 (sodium/iodide cotransporter), member 5							87.0	69.0	75.0					19																	17993012		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17993012G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1226G>A	19.37:g.17993012G>A	ENSP00000222248:p.Gly409Glu						p.G409E	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			10	1573	+			409					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1226G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089128	0.36855	.	.	ENSG00000105641	ENST00000222248	D	0.89746	-2.56	4.89	4.89	0.63831	.	0.187641	0.47852	D	0.000216	D	0.94082	0.8103	M	0.85630	2.765	0.41835	D	0.990095	D	0.61080	0.989	D	0.64595	0.927	D	0.93736	0.7046	10	0.35671	T	0.21	.	15.5341	0.75990	0.0:0.0:1.0:0.0	.	409	Q92911	SC5A5_HUMAN	E	409	ENSP00000222248:G409E	ENSP00000222248:G409E	G	+	2	0	SLC5A5	17854012	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	4.052000	0.57420	2.277000	0.76020	0.561000	0.74099	GGA		0.617	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			13	25	0	0	0	1	0	13	25				
PPAT	5471	broad.mit.edu	37	4	57261635	57261635	+	Missense_Mutation	SNP	T	T	A			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr4:57261635T>A	ENST00000264220.2	-	11	1574	c.1437A>T	c.(1435-1437)aaA>aaT	p.K479N	RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	479					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	GCTTTTTCTCTTTCTGTTTTT	0.358																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1435-1437)aaA>aaT		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						115.0	107.0	110.0					4																	57261635		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57261635T>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1437A>T	4.37:g.57261635T>A	ENSP00000264220:p.Lys479Asn						p.K479N	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			11	1574	-	Glioma(25;0.08)|all_neural(26;0.101)		479						Missense_Mutation	SNP	ENST00000264220.2	37	c.1437A>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	T	2.988	-0.208739	0.06140	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.28	4.08	0.47627	.	0.565679	0.21244	N	0.077767	T	0.26955	0.0660	L	0.44542	1.39	0.27223	N	0.959602	B	0.06786	0.001	B	0.04013	0.001	T	0.18808	-1.0325	9	0.15952	T	0.53	-17.4283	1.63	0.02730	0.1307:0.1566:0.1534:0.5592	.	479	Q06203	PUR1_HUMAN	N	479	.	ENSP00000264220:K479N	K	-	3	2	PPAT	56956392	0.869000	0.29996	0.874000	0.34290	0.054000	0.15201	1.068000	0.30629	0.942000	0.37525	-0.297000	0.09499	AAA		0.358	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		4	45	0	0	0	1	0	4	45				
NBAS	51594	broad.mit.edu	37	2	15534433	15534433	+	Missense_Mutation	SNP	T	T	C	rs527958367		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr2:15534433T>C	ENST00000281513.5	-	28	3200	c.3175A>G	c.(3175-3177)Att>Gtt	p.I1059V	NBAS_ENST00000441750.1_Missense_Mutation_p.I939V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1059					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAAATGAAATTGGTTTCTCG	0.363																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(3175-3177)Att>Gtt		neuroblastoma amplified sequence							72.0	70.0	71.0					2																	15534433		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15534433T>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3175A>G	2.37:g.15534433T>C	ENSP00000281513:p.Ile1059Val					NBAS_ENST00000441750.1_Missense_Mutation_p.I939V	p.I1059V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			28	3200	-			1059					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.3175A>G	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.025|2.025	-0.423829|-0.423829	0.04734|0.04734	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000429842	T;T;T|.	0.15603|.	2.41;2.41;2.41|.	5.48|5.48	-4.71|-4.71	0.03279|0.03279	Secretory pathway Sec39 (1);|.	0.246536|.	0.46145|.	N|.	0.000319|.	T|T	0.33904|0.33904	0.0879|0.0879	N|N	0.19112|0.19112	0.55|0.55	0.29585|0.29585	N|N	0.848859|0.848859	B;B|.	0.22800|.	0.075;0.001|.	B;B|.	0.25140|.	0.058;0.009|.	T|T	0.30679|0.30679	-0.9970|-0.9970	10|5	0.87932|.	D|.	0|.	.|.	15.0394|15.0394	0.71777|0.71777	0.0:0.5855:0.0:0.4145|0.0:0.5855:0.0:0.4145	.|.	939;1059|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	939;1059;106|156	ENSP00000413201:I939V;ENSP00000281513:I1059V;ENSP00000396501:I106V|.	ENSP00000281513:I1059V|.	I|N	-|-	1|2	0|0	NBAS|NBAS	15451884|15451884	0.027000|0.027000	0.19231|0.19231	0.043000|0.043000	0.18650|0.18650	0.878000|0.878000	0.50629|0.50629	0.157000|0.157000	0.16402|0.16402	-1.255000|-1.255000	0.02481|0.02481	-0.904000|-0.904000	0.02843|0.02843	ATT|AAT		0.363	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		3	50	0	0	0	1	0	3	50				
ADAMTS1	9510	broad.mit.edu	37	21	28210279	28210279	+	Silent	SNP	G	G	A	rs534611186		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr21:28210279G>A	ENST00000284984.3	-	9	2977	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	841	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCTTCTTTACGAAGTAGGTGT	0.443																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2521-2523)ttC>ttT		ADAM metallopeptidase with thrombospondin type 1 motif, 1							84.0	83.0	83.0					21																	28210279		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210279G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2523C>T	21.37:g.28210279G>A							p.F841F	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	2977	-		Breast(209;0.000962)	841			Spacer.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.2523C>T	CCDS33524.1																																																																																				0.443	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			3	49	0	0	0	1	0	3	49				
MEF2A	4205	broad.mit.edu	37	15	100211761	100211761	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr15:100211761C>T	ENST00000354410.5	+	5	924	c.295C>T	c.(295-297)Cca>Tca	p.P99S	MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000449277.2_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	99					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.P99S(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GTGCGACAGCCCAGACCCTGA	0.333																																						ENST00000354410.5																			3	Substitution - Missense(3)	p.P99S(3)	lung(1)|kidney(1)|central_nervous_system(1)	endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(295-297)Cca>Tca		myocyte enhancer factor 2A							82.0	69.0	73.0					15																	100211761		1843	4079	5922	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211761C>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.295C>T	15.37:g.100211761C>T	ENSP00000346389:p.Pro99Ser					MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000338042.6_Intron	p.P99S	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		5	924	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		99					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	c.295C>T	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814941	0.90790	.	.	ENSG00000068305	ENST00000354410	T	0.63255	-0.03	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85220	0.1026	10	0.72032	D	0.01	-16.5447	19.5673	0.95398	0.0:1.0:0.0:0.0	.	99;99	Q02078;Q02078-5	MEF2A_HUMAN;.	S	99	ENSP00000346389:P99S	ENSP00000346389:P99S	P	+	1	0	MEF2A	98029284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.706000	0.92434	0.462000	0.41574	CCA		0.333	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415980.1			3	29	0	0	0	1	0	3	29				
RNF213	57674	broad.mit.edu	37	17	78337016	78337016	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:78337016C>T	ENST00000582970.1	+	40	11613	c.11470C>T	c.(11470-11472)Cgt>Tgt	p.R3824C	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R1897C|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R3873C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3824					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCAGAAGCCGTCTGCAGAA	0.552																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11470-11472)Cgt>Tgt		ring finger protein 213							101.0	95.0	97.0					17																	78337016		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78337016C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11470C>T	17.37:g.78337016C>T	ENSP00000464087:p.Arg3824Cys					RNF213_ENST00000508628.2_Missense_Mutation_p.R3873C|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R1897C|CTD-2047H16.4_ENST00000572151.1_RNA	p.R3824C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		40	11613	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11470C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494786	0.85069	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.27557	1.66	5.59	5.59	0.84812	.	0.062549	0.64402	D	0.000002	T	0.57710	0.2072	M	0.81239	2.535	0.49582	D	0.999805	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.882	T	0.60342	-0.7282	10	0.56958	D	0.05	.	14.4261	0.67218	0.1475:0.8525:0.0:0.0	.	3873;1897	C9JCP4;Q63HN8	.;RN213_HUMAN	C	3824;3873;1897	ENSP00000338218:R1897C	ENSP00000338218:R1897C	R	+	1	0	RNF213	75951611	1.000000	0.71417	0.990000	0.47175	0.776000	0.43924	5.436000	0.66538	2.623000	0.88846	0.655000	0.94253	CGT		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		24	46	0	0	0	1	0	24	46				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	23	0	0	0	1	0	4	23				
MED13	9969	broad.mit.edu	37	17	60033834	60033834	+	Missense_Mutation	SNP	C	C	T	rs377382016		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:60033834C>T	ENST00000397786.2	-	24	5565	c.5489G>A	c.(5488-5490)cGg>cAg	p.R1830Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1830					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACTTTTTTTCCGACGAGCCCT	0.358																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5488-5490)cGg>cAg		mediator complex subunit 13		C	GLN/ARG	0,3588		0,0,1794	77.0	70.0	72.0		5489	5.5	1.0	17		72	1,8145		0,1,4072	no	missense	MED13	NM_005121.2	43	0,1,5866	TT,TC,CC		0.0123,0.0,0.0085	benign	1830/2175	60033834	1,11733	1794	4073	5867	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60033834C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5489G>A	17.37:g.60033834C>T	ENSP00000380888:p.Arg1830Gln						p.R1830Q	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			24	5565	-			1830					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5489G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708860	0.96821	0.0	1.23E-4	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83673	-1.75	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91085	0.7194	M	0.74647	2.275	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.91110	0.4921	10	0.54805	T	0.06	-9.6759	19.2908	0.94098	0.0:1.0:0.0:0.0	.	1830	Q9UHV7	MED13_HUMAN	Q	1830;1829	ENSP00000380888:R1830Q	ENSP00000262436:R1829Q	R	-	2	0	MED13	57388616	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.449000	0.80643	2.554000	0.86153	0.655000	0.94253	CGG		0.358	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		23	64	0	0	0	1	0	23	64				
AHNAK2	113146	broad.mit.edu	37	14	105418827	105418827	+	Silent	SNP	G	G	A	rs371134105		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr14:105418827G>A	ENST00000333244.5	-	7	3080	c.2961C>T	c.(2959-2961)gcC>gcT	p.A987A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	987						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCCTTGTCGGCCAGGGACA	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2959-2961)gcC>gcT		AHNAK nucleoprotein 2							229.0	257.0	248.0					14																	105418827		2036	4171	6207	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418827G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2961C>T	14.37:g.105418827G>A						AHNAK2_ENST00000557457.1_Intron	p.A987A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3080	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	987					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2961C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	519	0	0	0	1	0	8	519				
NUP205	23165	broad.mit.edu	37	7	135282924	135282924	+	Missense_Mutation	SNP	G	G	A	rs375295025		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr7:135282924G>A	ENST00000285968.6	+	15	2269	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	748					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 transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTACGATTCCGTACAAGAGCT	0.428																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2242-2244)cGt>cAt		nucleoporin 205kDa		G	HIS/ARG	0,4406		0,0,2203	159.0	164.0	162.0		2243	5.7	1.0	7		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP205	NM_015135.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	748/2013	135282924	1,13005	2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135282924G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2243G>A	7.37:g.135282924G>A	ENSP00000285968:p.Arg748His					NUP205_ENST00000440390.2_3'UTR	p.R748H	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			15	2269	+			748					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2243G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490520	0.44249	0.0	1.16E-4	ENSG00000155561	ENST00000285968	T	0.32753	1.44	5.73	5.73	0.89815	.	0.098316	0.64402	D	0.000001	T	0.21387	0.0515	N	0.13098	0.295	0.80722	D	1	B	0.31655	0.334	B	0.24394	0.053	T	0.03473	-1.1033	10	0.40728	T	0.16	-22.9195	19.8824	0.96903	0.0:0.0:1.0:0.0	.	748	Q92621	NU205_HUMAN	H	748	ENSP00000285968:R748H	ENSP00000285968:R748H	R	+	2	0	NUP205	134933464	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.954000	0.76001	2.696000	0.92011	0.591000	0.81541	CGT		0.428	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			5	181	0	0	0	1	0	5	181				
GPR162	27239	broad.mit.edu	37	12	6934826	6934827	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr12:6934826_6934827insA	ENST00000311268.3	+	3	1832_1833	c.1045_1046insA	c.(1045-1047)gatfs	p.D349fs	GPR162_ENST00000428545.2_Frame_Shift_Ins_p.D65fs|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Frame_Shift_Ins_p.D45fs|LEPREL2_ENST00000606935.1_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	349						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GTCTGAGGAGGATGGAGATGAC	0.609											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1045-1047)tggfs		G protein-coupled receptor 162																																				SO:0001589	frameshift_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6934826_6934827insA	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1046dupA	12.37:g.6934827_6934827dupA	ENSP00000311528:p.Asp349fs		OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	GPR162_ENST00000382315.3_Frame_Shift_Ins_p.W45fs|GPR162_ENST00000428545.2_Frame_Shift_Ins_p.W65fs	p.W349fs	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			3	1832_1833	+			349					Q16664|Q59EH5|Q66K56	Frame_Shift_Ins	INS	ENST00000311268.3	37	c.1045_1046insA	CCDS8563.1																																																																																				0.609	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		2	4						2	4	---	---	---	---
