#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCNL2	81669	broad.mit.edu	37	1	1333666	1333666	+	Silent	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:1333666G>A	ENST00000400809.3	-	3	425	c.420C>T	c.(418-420)cgC>cgT	p.R140R	CCNL2_ENST00000408918.4_Silent_p.R140R|RP4-758J18.2_ENST00000576232.1_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408952.5_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	140	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R140R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGTCCCGTATGCGTCTTGGGG	0.502																																						ENST00000400809.3																			1	Substitution - coding silent(1)	p.R140R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(418-420)cgC>cgT		cyclin L2							205.0	176.0	186.0					1																	1333666		2203	4300	6503	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1333666G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.420C>T	1.37:g.1333666G>A			Somatic				CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Silent_p.R140R	p.R140R	NM_030937.4	NP_112199.2	WXS	Illumina GAIIx	Phase_I	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	3	425	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	140			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.420C>T	CCDS30557.1																																																																																				0.502	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		51	195	51	195	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16918514	16918514	+	Start_Codon_SNP	SNP	C	C	A	rs374735184		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:16918514C>A	ENST00000430580.2	-	7	890	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGATACCACCATGCTGACGT	0.483																																						ENST00000430580.2																			0											c.(1-3)atG>atT		neuroblastoma breakpoint family, member 1							259.0	261.0	260.0					1																	16918514		2197	4299	6496	SO:0001582	initiator_codon_variant	55672					cytoplasm		g.chr1:16918514C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3G>T	1.37:g.16918514C>A	ENSP00000474456:p.Met1Ile		Somatic					p.M1I	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	7	890	-			1					Q8N4E8|Q9C0H0	Translation_Start_Site	SNP	ENST00000430580.2	37	c.3G>T																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Missense_Mutation	40	852	40	852	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154988948	154988948	+	Silent	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:154988948C>A	ENST00000368426.3	+	4	1544	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P	ZBTB7B_ENST00000292176.2_Silent_p.P469P|ZBTB7B_ENST00000535420.1_Silent_p.P469P|ZBTB7B_ENST00000417934.2_Silent_p.P503P	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	469					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P469P(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATGCACCACCCCACTACCCAC	0.652																																						ENST00000368426.3																			1	Substitution - coding silent(1)	p.P469P(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1405-1407)ccC>ccA		zinc finger and BTB domain containing 7B							106.0	82.0	90.0					1																	154988948		2203	4299	6502	SO:0001819	synonymous_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988948C>A	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1407C>A	1.37:g.154988948C>A			Somatic				ZBTB7B_ENST00000292176.2_Silent_p.P469P|ZBTB7B_ENST00000417934.2_Silent_p.P503P|ZBTB7B_ENST00000535420.1_Silent_p.P469P	p.P469P	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1544	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		469					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	c.1407C>A	CCDS1081.1																																																																																				0.652	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		3	56	3	56	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243354360	243354360	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:243354360G>T	ENST00000366542.1	-	8	1119	c.1068C>A	c.(1066-1068)agC>agA	p.S356R	CEP170_ENST00000366543.1_Missense_Mutation_p.S356R|CEP170_ENST00000366544.1_Missense_Mutation_p.S356R	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	356						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.S356R(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACTTTTAATGCTTTTAGAAT	0.378																																						ENST00000366542.1																			1	Substitution - Missense(1)	p.S356R(1)	prostate(1)	NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(1066-1068)agC>agA		centrosomal protein 170kDa							34.0	31.0	32.0					1																	243354360		1836	4081	5917	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243354360G>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1068C>A	1.37:g.243354360G>T	ENSP00000355500:p.Ser356Arg		Somatic				CEP170_ENST00000366544.1_Missense_Mutation_p.S356R|CEP170_ENST00000366543.1_Missense_Mutation_p.S356R	p.S356R	NM_014812.2	NP_055627.2	WXS	Illumina GAIIx	Phase_I	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		8	1119	-	all_neural(11;0.101)	all_cancers(173;0.003)	356					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1068C>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.85|15.85	2.955096|2.955096	0.53293|0.53293	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081	.|T;T;T	.|0.65549	.|-0.16;-0.07;-0.06	4.91|4.91	0.0258|0.0258	0.14147|0.14147	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73321|0.73321	0.3572|0.3572	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	T|T	0.72191|0.72191	-0.4365|-0.4365	5|10	.|0.72032	.|D	.|0.01	-12.7442|-12.7442	9.8519|9.8519	0.41061|0.41061	0.6006:0.0:0.3994:0.0|0.6006:0.0:0.3994:0.0	.|.	.|356;356;356	.|Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;CE170_HUMAN	E|R	258|356;356;356;254	.|ENSP00000355500:S356R;ENSP00000355502:S356R;ENSP00000355501:S356R	.|ENSP00000355500:S356R	A|S	-|-	2|3	0|2	CEP170|CEP170	241420983|241420983	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.978000|0.978000	0.69477|0.69477	1.758000|1.758000	0.38410|0.38410	-0.023000|-0.023000	0.13963|0.13963	-0.391000|-0.391000	0.06502|0.06502	GCA|AGC		0.378	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		3	41	3	41	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467945	164467945	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:164467945C>T	ENST00000333129.3	-	3	711	c.397G>A	c.(397-399)Gct>Act	p.A133T	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	133					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A133T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGACTCCAGCTTTGCTGGCA	0.498																																						ENST00000333129.3																			1	Substitution - Missense(1)	p.A133T(1)	prostate(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(397-399)Gct>Act		fidgetin							110.0	105.0	106.0					2																	164467945		1960	4151	6111	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467945C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.397G>A	2.37:g.164467945C>T	ENSP00000333836:p.Ala133Thr		Somatic				FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	p.A133T	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	Q5HY92	FIGN_HUMAN			3	711	-			133					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.397G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825137	0.32237	.	.	ENSG00000182263	ENST00000333129	T	0.23552	1.9	6.07	6.07	0.98685	.	0.172677	0.51477	D	0.000098	T	0.20007	0.0481	N	0.19112	0.55	0.45822	D	0.998697	B	0.12630	0.006	B	0.06405	0.002	T	0.09207	-1.0685	10	0.16896	T	0.51	-7.4814	20.6593	0.99626	0.0:1.0:0.0:0.0	.	133	Q5HY92	FIGN_HUMAN	T	133	ENSP00000333836:A133T	ENSP00000333836:A133T	A	-	1	0	FIGN	164176191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	2.885000	0.99019	0.655000	0.94253	GCT		0.498	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		80	230	80	230	---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46592966	46592966	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:46592966G>A	ENST00000395905.3	-	2	508	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LRRC2_ENST00000496388.1_Intron|AC104304.2_ENST00000583198.1_RNA|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	39								p.A39V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTCTCCAAGGCGCTCTTCTC	0.468																																						ENST00000395905.3																			1	Substitution - Missense(1)	p.A39V(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(115-117)gCc>gTc		leucine rich repeat containing 2							132.0	134.0	133.0					3																	46592966		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46592966G>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.116C>T	3.37:g.46592966G>A	ENSP00000379241:p.Ala39Val		Somatic				LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V	p.A39V	NM_024512.4	NP_078788.2	WXS	Illumina GAIIx	Phase_I	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	508	-		Ovarian(412;0.0563)	39					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.116C>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979296	0.53827	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.19532	2.14;2.14	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000013	T	0.33904	0.0879	L	0.32530	0.975	0.53005	D	0.999963	D	0.76494	0.999	D	0.78314	0.991	T	0.01520	-1.1334	10	0.28530	T	0.3	.	15.6094	0.76704	0.0:0.0:1.0:0.0	.	39	Q9BYS8	LRRC2_HUMAN	V	39	ENSP00000379241:A39V;ENSP00000296144:A39V	ENSP00000296144:A39V	A	-	2	0	LRRC2	46567970	0.982000	0.34865	0.187000	0.23214	0.072000	0.16883	5.919000	0.70005	2.624000	0.88883	0.655000	0.94253	GCC		0.468	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			4	164	4	164	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51413195	51413195	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:51413195G>A	ENST00000266037.9	+	51	5452	c.5429G>A	c.(5428-5430)cGa>cAa	p.R1810Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1810					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1810Q(2)|p.R1799Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATTTCCAGCGAGCCCTGTTC	0.527																																						ENST00000266037.9																			3	Substitution - Missense(3)	p.R1810Q(2)|p.R1799Q(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5428-5430)cGa>cAa		dedicator of cytokinesis 3							114.0	126.0	122.0					3																	51413195		2071	4189	6260	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51413195G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5429G>A	3.37:g.51413195G>A	ENSP00000266037:p.Arg1810Gln		Somatic					p.R1810Q	NM_004947.4	NP_004938.1	WXS	Illumina GAIIx	Phase_I	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	51	5452	+			1810					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5429G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754811	0.49362	.	.	ENSG00000088538	ENST00000266037	T	0.57752	0.38	5.11	4.23	0.50019	.	0.075264	0.49916	D	0.000124	T	0.52289	0.1725	M	0.68317	2.08	0.49915	D	0.999837	P	0.52061	0.95	B	0.40864	0.342	T	0.60296	-0.7291	10	0.56958	D	0.05	.	15.5465	0.76104	0.0:0.1386:0.8614:0.0	.	1810	Q8IZD9	DOCK3_HUMAN	Q	1810	ENSP00000266037:R1810Q	ENSP00000266037:R1810Q	R	+	2	0	DOCK3	51388235	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	7.141000	0.77330	1.129000	0.42072	0.655000	0.94253	CGA		0.527	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	220	6	220	---	---	---	---
OCIAD1	54940	broad.mit.edu	37	4	48851971	48851971	+	Silent	SNP	T	T	C			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr4:48851971T>C	ENST00000381473.3	+	6	667	c.249T>C	c.(247-249)tgT>tgC	p.C83C	OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000509122.1_Silent_p.C56C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000425583.2_Silent_p.C83C	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	83	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.C83C(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAGTTGCTTGTATCATGGGAT	0.318																																						ENST00000425583.2																			1	Substitution - coding silent(1)	p.C83C(1)	prostate(1)	breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(247-249)tgT>tgC		OCIA domain containing 1							55.0	60.0	58.0					4																	48851971		2203	4300	6503	SO:0001819	synonymous_variant	54940					endosome	protein binding	g.chr4:48851971T>C	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.249T>C	4.37:g.48851971T>C			Somatic				OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000381473.3_Silent_p.C83C|OCIAD1_ENST00000509122.1_Silent_p.C56C	p.C83C	NM_001079842.2	NP_001073311.2	WXS	Illumina GAIIx	Phase_I	Q9NX40	OCAD1_HUMAN			6	524	+			83			OCIA.		C9K030|G8JLN7|Q9BZE8	Silent	SNP	ENST00000381473.3	37	c.249T>C	CCDS3484.1																																																																																				0.318	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		39	128	39	128	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140735373	140735373	+	Silent	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:140735373C>T	ENST00000571252.1	+	1	606	c.606C>T	c.(604-606)cgC>cgT	p.R202R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGATCGCGAGGAAGAGG	0.552																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(604-606)cgC>cgT									24.0	27.0	26.0					5																	140735373		2166	4283	6449	SO:0001819	synonymous_variant	56111							g.chr5:140735373C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.606C>T	5.37:g.140735373C>T			Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R202R	NM_018917.2	NP_061740	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	606	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.606C>T	CCDS58979.1																																																																																				0.552	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		6	21	6	21	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2910129	2910129	+	Silent	SNP	T	T	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:2910129T>A	ENST00000520002.1	-	51	8073	c.7518A>T	c.(7516-7518)tcA>tcT	p.S2506S	CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000602557.1_Silent_p.S2506S|CSMD1_ENST00000537824.1_Silent_p.S2505S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2506	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S2505S(1)|p.S2234S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCGGTAAATGAACCGTTTC	0.428																																						ENST00000520002.1																			2	Substitution - coding silent(2)	p.S2505S(1)|p.S2234S(1)	prostate(2)	breast(20)|large_intestine(5)	25						c.(7516-7518)tcA>tcT		CUB and Sushi multiple domains 1							51.0	48.0	49.0					8																	2910129		1860	4108	5968	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2910129T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7518A>T	8.37:g.2910129T>A			Somatic				CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000602557.1_Silent_p.S2506S	p.S2506S			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	51	8073	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2506			Sushi 15.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7518A>T		.	.	.	.	.	.	.	.	.	.	T	0.023	-1.406063	0.01155	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.46698	0.1406	.	.	.	0.51233	D	0.999916	.	.	.	.	.	.	T	0.71820	-0.4477	4	.	.	.	.	7.8319	0.29347	0.1248:0.1453:0.5399:0.19	.	.	.	.	F	1923	.	.	I	-	1	0	CSMD1	2897536	0.009000	0.17119	0.000000	0.03702	0.012000	0.07955	-1.947000	0.01534	-6.556000	0.00003	-3.755000	0.00021	ATT		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	27	7	27	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41572581	41572581	+	Silent	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:41572581G>A	ENST00000347528.4	-	15	1697	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000396942.1_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000289734.7_Silent_p.T538T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	538	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T538T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTGCAGAGGGGTAAATCCTT	0.627																																						ENST00000396942.1																			1	Substitution - coding silent(1)	p.T538T(1)	prostate(1)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1612-1614)acC>acT		ankyrin 1, erythrocytic							60.0	62.0	61.0					8																	41572581		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41572581G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1614C>T	8.37:g.41572581G>A			Somatic				ANK1_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000347528.4_Silent_p.T538T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000289734.7_Silent_p.T538T	p.T538T			WXS	Illumina GAIIx	Phase_I	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		15	1697	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	538			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1614C>T	CCDS6119.1																																																																																				0.627	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		22	91	22	91	---	---	---	---
CELF2	10659	broad.mit.edu	37	10	11330491	11330491	+	Missense_Mutation	SNP	G	G	A	rs557804153		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:11330491G>A	ENST00000379261.4	+	9	1023	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000608830.1_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000315874.4_Missense_Mutation_p.A287T|CELF2_ENST00000609692.1_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000542579.1_Missense_Mutation_p.A318T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	311	Ala-rich.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A306T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACGAGCAGCGCCCTGGGAGC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16713	0.0		0.0	False		,,,				2504	0.0					ENST00000379261.4																			1	Substitution - Missense(1)	p.A306T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(931-933)Gcc>Acc		CUGBP, Elav-like family member 2							31.0	35.0	34.0					10																	11330491		2054	4190	6244	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11330491G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.931G>A	10.37:g.11330491G>A	ENSP00000368563:p.Ala311Thr		Somatic				CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000608830.1_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000609692.1_Missense_Mutation_p.A287T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T|CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000315874.4_Missense_Mutation_p.A287T	p.A311T	NM_001025077.2	NP_001020248.1	WXS	Illumina GAIIx	Phase_I	O95319	CELF2_HUMAN			9	1023	+			311			Ala-rich.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.931G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126636	0.56721	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.86	4.86	0.63082	.	0.123147	0.56097	D	0.000040	T	0.32224	0.0822	L	0.29908	0.895	0.58432	D	0.999996	P;B;D;B;B;P;P	0.56287	0.913;0.443;0.975;0.342;0.027;0.884;0.913	B;B;B;B;B;B;B	0.39904	0.163;0.035;0.313;0.024;0.015;0.115;0.163	T	0.09037	-1.0693	10	0.27785	T	0.31	-11.9687	18.0169	0.89243	0.0:0.0:1.0:0.0	.	295;311;83;306;318;306;311	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	T	311;311;318;318;287;287;287;287;287;287;200;117	ENSP00000368563:A311T;ENSP00000406451:A311T;ENSP00000389951:A318T;ENSP00000443926:A318T;ENSP00000382743:A287T;ENSP00000404834:A287T;ENSP00000315328:A287T;ENSP00000346426:A287T;ENSP00000388530:A287T;ENSP00000438884:A200T	ENSP00000315328:A287T	A	+	1	0	CELF2	11370497	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.175000	0.65021	2.267000	0.75376	0.460000	0.39030	GCC		0.637	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	45	10	45	---	---	---	---
GHITM	27069	broad.mit.edu	37	10	85904774	85904774	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:85904774T>C	ENST00000372134.3	+	5	676		c.e5+2			NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein						apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TCTTGGGTGGTAAGTCAGCTG	0.368																																						ENST00000372134.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.e5+2		growth hormone inducible transmembrane protein							169.0	150.0	156.0					10																	85904774		1866	4097	5963	SO:0001630	splice_region_variant	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85904774T>C	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.483+2T>C	10.37:g.85904774T>C			Somatic						NM_014394.2	NP_055209.2	WXS	Illumina GAIIx	Phase_I	Q9H3K2	GHITM_HUMAN			5	676	+								A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Splice_Site	SNP	ENST00000372134.3	37		CCDS41542.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383853	0.82792	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3789	0.74637	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GHITM	85894754	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.586000	0.82596	2.333000	0.79357	0.533000	0.62120	.		0.368	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394	Intron	3	176	3	176	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594892	55594892	+	Missense_Mutation	SNP	G	G	T	rs548957440	byFrequency	TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:55594892G>T	ENST00000378397.1	+	1	198	c.198G>T	c.(196-198)ttG>ttT	p.L66F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCAGCCACTTGTCCTTTGTAG	0.473										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.L66F(1)	prostate(1)	breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(196-198)ttG>ttT		olfactory receptor, family 5, subfamily L, member 2							230.0	213.0	219.0					11																	55594892		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594892G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.198G>T	11.37:g.55594892G>T	ENSP00000367650:p.Leu66Phe	HNSCC(27;0.073)	Somatic					p.L66F	NM_001004739.1	NP_001004739.1	WXS	Illumina GAIIx	Phase_I	Q8NGL0	OR5L2_HUMAN			1	198	+		all_epithelial(135;0.208)	66					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.198G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317754	0.60524	.	.	ENSG00000205030	ENST00000378397	T	0.00512	6.89	5.21	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39020	N	0.001498	T	0.01287	0.0042	M	0.77616	2.38	0.36146	D	0.847102	D	0.71674	0.998	D	0.67231	0.95	T	0.58399	-0.7643	10	0.87932	D	0	-31.318	7.0273	0.24946	0.1622:0.0:0.7019:0.1359	.	66	Q8NGL0	OR5L2_HUMAN	F	66	ENSP00000367650:L66F	ENSP00000367650:L66F	L	+	3	2	OR5L2	55351468	0.000000	0.05858	1.000000	0.80357	0.958000	0.62258	-0.241000	0.08940	0.232000	0.21100	-0.411000	0.06167	TTG		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		6	486	6	486	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128312	56128312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:56128312C>T	ENST00000303039.3	+	1	622	c.590C>T	c.(589-591)aCa>aTa	p.T197I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T197I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTACCAGAAACAGTTGTCTTT	0.294																																						ENST00000303039.3																			1	Substitution - Missense(1)	p.T197I(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(589-591)aCa>aTa		olfactory receptor, family 8, subfamily J, member 1							162.0	151.0	154.0					11																	56128312		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128312C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.590C>T	11.37:g.56128312C>T	ENSP00000304060:p.Thr197Ile		Somatic					p.T197I	NM_001005205.2	NP_001005205.2	WXS	Illumina GAIIx	Phase_I	Q8NGP2	OR8J1_HUMAN			1	622	+	Esophageal squamous(21;0.00448)		197					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.590C>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	2.579	-0.297953	0.05532	.	.	ENSG00000172487	ENST00000303039	T	0.00039	8.85	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00073	0.0002	N	0.02960	-0.455	0.09310	N	1	B	0.15141	0.012	B	0.27887	0.084	T	0.10520	-1.0626	10	0.17369	T	0.5	.	7.5832	0.27976	0.0:0.8824:0.0:0.1176	.	197	Q8NGP2	OR8J1_HUMAN	I	197	ENSP00000304060:T197I	ENSP00000304060:T197I	T	+	2	0	OR8J1	55884888	0.000000	0.05858	0.702000	0.30337	0.135000	0.20990	0.645000	0.24782	2.185000	0.69588	0.549000	0.68633	ACA		0.294	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		50	140	50	140	---	---	---	---
DYRK2	8445	broad.mit.edu	37	12	68050894	68050894	+	Silent	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr12:68050894C>A	ENST00000344096.3	+	3	620	c.207C>A	c.(205-207)ggC>ggA	p.G69G	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_5'UTR	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	69					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.G69G(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AGATTGGCGGCAGTAAGCACA	0.473																																						ENST00000344096.3																			2	Substitution - coding silent(2)	p.G69G(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(205-207)ggC>ggA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							65.0	62.0	63.0					12																	68050894		2203	4300	6503	SO:0001819	synonymous_variant	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68050894C>A	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.207C>A	12.37:g.68050894C>A			Somatic				DYRK2_ENST00000393555.3_5'UTR	p.G69G	NM_006482.2	NP_006473.2	WXS	Illumina GAIIx	Phase_I	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	620	+			69					B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	c.207C>A	CCDS8978.1																																																																																				0.473	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			3	90	3	90	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101764854	101764854	+	Silent	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr12:101764854C>T	ENST00000261637.4	+	51	6880	c.6706C>T	c.(6706-6708)Ctg>Ttg	p.L2236L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2236					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L2236L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCAAGAAAGCTGTTGGTCCC	0.448																																						ENST00000261637.4																			1	Substitution - coding silent(1)	p.L2236L(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6706-6708)Ctg>Ttg		UTP20, small subunit (SSU) processome component, homolog (yeast)							143.0	139.0	140.0					12																	101764854		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101764854C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6706C>T	12.37:g.101764854C>T			Somatic					p.L2236L	NM_014503.2	NP_055318.2	WXS	Illumina GAIIx	Phase_I	O75691	UTP20_HUMAN			51	6880	+			2236					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6706C>T	CCDS9081.1																																																																																				0.448	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		56	218	56	218	---	---	---	---
TNFAIP2	7127	broad.mit.edu	37	14	103599852	103599852	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr14:103599852C>A	ENST00000560869.1	+	10	2338	c.1699C>A	c.(1699-1701)Cac>Aac	p.H567N	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	567					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.H567N(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CTGCACCCAGCACGTAAGCCG	0.627																																						ENST00000560869.1																			1	Substitution - Missense(1)	p.H567N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1699-1701)Cac>Aac		tumor necrosis factor, alpha-induced protein 2							57.0	54.0	55.0					14																	103599852		2203	4300	6503	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103599852C>A		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1699C>A	14.37:g.103599852C>A	ENSP00000452634:p.His567Asn		Somatic				TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N	p.H567N			WXS	Illumina GAIIx	Phase_I	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		10	2338	+		Melanoma(154;0.155)	567					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.1699C>A	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.937720	0.00484	.	.	ENSG00000185215	ENST00000333007;ENST00000451723;ENST00000538222	T;T;T	0.06371	3.31;3.31;3.31	4.54	-1.27	0.09347	.	0.744073	0.13166	N	0.408682	T	0.01870	0.0059	N	0.01188	-0.97	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.44832	-0.9302	10	0.02654	T	1	-8.3823	12.1787	0.54199	0.3379:0.6621:0.0:0.0	.	50;567	F6RNL3;Q03169	.;TNAP2_HUMAN	N	567;236;50	ENSP00000332326:H567N;ENSP00000393256:H236N;ENSP00000446171:H50N	ENSP00000332326:H567N	H	+	1	0	TNFAIP2	102669605	0.765000	0.28485	0.097000	0.21041	0.316000	0.28119	0.594000	0.24014	-0.542000	0.06249	-0.500000	0.04577	CAC		0.627	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		3	50	3	50	---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49329843	49329843	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:49329843T>A	ENST00000559471.1	-	2	411	c.148A>T	c.(148-150)Att>Ttt	p.I50F	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	50							poly(A) RNA binding (GO:0044822)	p.I50F(1)|p.I50V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGCTGGGAATTGGAGTTGGT	0.398																																						ENST00000559471.1																			2	Substitution - Missense(2)	p.I50F(1)|p.I50V(1)	prostate(1)|pancreas(1)	breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(148-150)Att>Ttt		SECIS binding protein 2-like							89.0	81.0	84.0					15																	49329843		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49329843T>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.148A>T	15.37:g.49329843T>A	ENSP00000453854:p.Ile50Phe		Somatic				SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	p.I50F	NM_001193489.1	NP_001180418.1	WXS	Illumina GAIIx	Phase_I	Q93073	SBP2L_HUMAN			2	411	-			50					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.148A>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892907	0.91889	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.77877	-1.13	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.75314	-0.3361	10	0.09843	T	0.71	.	15.3598	0.74464	0.0:0.0:0.0:1.0	.	50;50	Q93073;Q93073-2	SBP2L_HUMAN;.	F	50	ENSP00000261847:I50F	ENSP00000261847:I50F	I	-	1	0	SECISBP2L	47117135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.011000	0.59026	0.533000	0.62120	ATT		0.398	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		34	82	34	82	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50190384	50190384	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:50190384A>G	ENST00000284509.6	-	22	2495	c.2354T>C	c.(2353-2355)gTa>gCa	p.V785A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	785						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V785A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCAGCAAATTACAGTCTTACA	0.423																																						ENST00000284509.6																			1	Substitution - Missense(1)	p.V785A(1)	prostate(1)	breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2353-2355)gTa>gCa		ATPase, class I, type 8B, member 4							136.0	119.0	125.0					15																	50190384		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50190384A>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2354T>C	15.37:g.50190384A>G	ENSP00000284509:p.Val785Ala		Somatic				ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	p.V785A	NM_024837.2	NP_079113.2	WXS	Illumina GAIIx	Phase_I	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	22	2495	-		all_lung(180;0.00183)	785					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2354T>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829831	0.91036	.	.	ENSG00000104043	ENST00000284509	D	0.88664	-2.41	5.92	5.92	0.95590	HAD-like domain (1);	0.069125	0.56097	D	0.000021	D	0.94703	0.8291	M	0.85197	2.74	0.53688	D	0.999972	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	D	0.95302	0.8404	10	0.87932	D	0	.	14.3151	0.66443	1.0:0.0:0.0:0.0	.	5;785	B3KVY8;Q8TF62	.;AT8B4_HUMAN	A	785	ENSP00000284509:V785A	ENSP00000284509:V785A	V	-	2	0	ATP8B4	47977676	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.281000	0.95811	2.266000	0.75297	0.533000	0.62120	GTA		0.423	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	154	4	154	---	---	---	---
PIWIL3	440822	broad.mit.edu	37	22	25144942	25144942	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:25144942C>A	ENST00000332271.5	-	12	1797	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	461					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.D461Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAATTGGTATCAAATTTCAAA	0.348																																						ENST00000332271.5																			1	Substitution - Missense(1)	p.D461Y(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1381-1383)Gat>Tat		piwi-like RNA-mediated gene silencing 3							93.0	89.0	91.0					22																	25144942		2202	4300	6502	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25144942C>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1381G>T	22.37:g.25144942C>A	ENSP00000330031:p.Asp461Tyr		Somatic				PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y	p.D461Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	WXS	Illumina GAIIx	Phase_I	Q7Z3Z3	PIWL3_HUMAN			12	1797	-			461						Missense_Mutation	SNP	ENST00000332271.5	37	c.1381G>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663456	0.47572	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.12879	2.64;2.64;2.64	2.29	2.29	0.28610	Ribonuclease H-like (1);	0.261185	0.35870	U	0.002940	T	0.28200	0.0696	L	0.52905	1.665	0.39545	D	0.968879	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.94;0.971	T	0.08310	-1.0728	10	0.87932	D	0	-10.5855	10.673	0.45770	0.0:1.0:0.0:0.0	.	352;461;461	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Y	461;352;352	ENSP00000330031:D461Y;ENSP00000431843:D352Y;ENSP00000435718:D352Y	ENSP00000330031:D461Y	D	-	1	0	PIWIL3	23474942	0.981000	0.34729	0.012000	0.15200	0.025000	0.11179	1.569000	0.36428	1.610000	0.50200	0.313000	0.20887	GAT		0.348	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		46	137	46	137	---	---	---	---
ASPHD2	57168	broad.mit.edu	37	22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:26830386G>A	ENST00000215906.5	+	2	1243	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	269					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547																																						ENST00000215906.5																			1	Substitution - Missense(1)	p.A243T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(805-807)Gcg>Acg		aspartate beta-hydroxylase domain containing 2							185.0	182.0	183.0					22																	26830386		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830386G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.805G>A	22.37:g.26830386G>A	ENSP00000215906:p.Ala269Thr		Somatic					p.A269T	NM_020437.4	NP_065170.2	WXS	Illumina GAIIx	Phase_I	Q6ICH7	ASPH2_HUMAN			2	1243	+			269					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.805G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619616	0.87460	.	.	ENSG00000128203	ENST00000215906	T	0.44083	0.93	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75459	-0.3310	10	0.62326	D	0.03	-33.4365	17.0945	0.86631	0.0:0.0:1.0:0.0	.	269	Q6ICH7	ASPH2_HUMAN	T	269	ENSP00000215906:A269T	ENSP00000215906:A269T	A	+	1	0	ASPHD2	25160386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	GCG		0.547	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		51	206	51	206	---	---	---	---
