#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
ART5	116969	broad.mit.edu	37	11	3660100	3660100	+	Intron	SNP	C	C	T	rs183301440	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:3660100C>T	ENST00000397068.3	-	4	1213				ART5_ENST00000359918.4_Intron|TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_Nonsense_Mutation_p.W222*	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5						protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGAGTCTTCCAGGGGGGCA	0.612													C|||	25	0.00499201	0.0182	0.0014	5008	,	,		18228	0.0		0.0	False		,,,				2504	0.0					ENST00000397067.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(664-666)tgG>tgA		ADP-ribosyltransferase 5																																				SO:0001627	intron_variant	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660100C>T	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.821-77G>A	11.37:g.3660100C>T						ART5_ENST00000397068.3_Intron|ART5_ENST00000359918.4_Intron	p.W222*			Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	4	795	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	219					C9IYG7|Q6UX84|Q86W02	Nonsense_Mutation	SNP	ENST00000397068.3	37	c.666G>A	CCDS7743.1	9|9	0.004120879120879121|0.004120879120879121	8|8	0.016260162601626018|0.016260162601626018	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	14.50|14.50	2.553273|2.553273	0.45487|0.45487	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000453353|ENST00000397067	.|.	.|.	.|.	5.38|5.38	3.35|3.35	0.38373|0.38373	.|.	.|.	.|.	.|.	.|.	T|.	0.43188|.	0.1236|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999993|0.999993	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52902|.	-0.8513|.	4|.	.|0.45353	.|T	.|0.12	.|.	7.0428|7.0428	0.25029|0.25029	0.0:0.7933:0.0:0.2067|0.0:0.7933:0.0:0.2067	.|.	.|.	.|.	.|.	K|X	247|222	.|.	.|ENSP00000380257:W222X	E|W	-|-	1|3	0|0	ART5|ART5	3616676|3616676	0.171000|0.171000	0.23029|0.23029	0.972000|0.972000	0.41901|0.41901	0.581000|0.581000	0.36288|0.36288	0.437000|0.437000	0.21543|0.21543	1.469000|1.469000	0.48083|0.48083	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.612	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		3	25	0	0	0	1	0	3	25				
ZNF177	7730	broad.mit.edu	37	19	9492389	9492389	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:9492389T>G	ENST00000589262.1	+	6	1448	c.1382T>G	c.(1381-1383)tTt>tGt	p.F461C	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.F301C|ZNF177_ENST00000541595.2_Missense_Mutation_p.F301C|ZNF177_ENST00000602738.1_Missense_Mutation_p.F301C|ZNF177_ENST00000434737.2_Missense_Mutation_p.F461C|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	461					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAAAAAGCCTTTAGCACAAGC	0.448																																						ENST00000541595.2																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						c.(901-903)tTt>tGt		zinc finger protein 177							154.0	162.0	159.0					19																	9492389		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492389T>G	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1382T>G	19.37:g.9492389T>G	ENSP00000468531:p.Phe461Cys					ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.F301C|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000589262.1_Missense_Mutation_p.F461C|ZNF177_ENST00000434737.2_Missense_Mutation_p.F461C|ZNF177_ENST00000343499.4_Missense_Mutation_p.F301C	p.F301C	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN			12	1531	+			301					B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.902T>G	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958823	0.53400	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.45668	0.89;0.89;0.89	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68796	0.3040	M	0.93241	3.395	0.27508	N	0.951765	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.78828	-0.2050	8	0.87932	D	0	.	8.8383	0.35126	0.0:0.0:0.0:1.0	.	461;301	B4DY57;Q13360	.;ZN177_HUMAN	C	301;301;461	ENSP00000445323:F301C;ENSP00000341497:F301C;ENSP00000415070:F461C	ENSP00000341497:F301C	F	+	2	0	ZNF177	9353389	1.000000	0.71417	0.442000	0.26870	0.909000	0.53808	4.809000	0.62591	1.404000	0.46819	0.460000	0.39030	TTT		0.448	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		32	151	0	0	0	1	0	32	151				
AURKAIP1	54998	broad.mit.edu	37	1	1309600	1309600	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr1:1309600C>T	ENST00000338370.3	-	2	678	c.278G>A	c.(277-279)gGg>gAg	p.G93E	AURKAIP1_ENST00000489799.1_5'Flank|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G93E			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	93					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCCACAGTCCCTGCGGTCCC	0.657																																						ENST00000338370.3																			0				kidney(1)|lung(2)	3						c.(277-279)gGg>gAg		aurora kinase A interacting protein 1							51.0	60.0	57.0					1																	1309600		2203	4295	6498	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309600C>T		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.278G>A	1.37:g.1309600C>T	ENSP00000342676:p.Gly93Glu					AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G93E	p.G93E			Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	678	-	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	93					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.278G>A	CCDS25.1	.	.	.	.	.	.	.	.	.	.	c	3.351	-0.132465	0.06753	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.71	-9.42	0.00610	.	0.853520	0.10190	N	0.704707	T	0.16896	0.0406	L	0.35723	1.085	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.44421	-0.9329	10	0.02654	T	1	-2.9457	0.5878	0.00723	0.2089:0.1815:0.2566:0.3531	.	93	Q9NWT8	AKIP_HUMAN	E	93	ENSP00000340656:G93E;ENSP00000342676:G93E;ENSP00000319778:G93E;ENSP00000368130:G93E	ENSP00000319778:G93E	G	-	2	0	AURKAIP1	1299463	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.464000	0.02359	-2.200000	0.00747	-0.793000	0.03317	GGG		0.657	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		6	66	0	0	0	1	0	6	66				
FAM86C2P	645332	broad.mit.edu	37	11	67564238	67564238	+	RNA	SNP	C	C	T	rs77785393	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:67564238C>T	ENST00000528089.1	-	0	902							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		CTGGTGCTCCCGGCAGGCAGC	0.612													.|||	3215	0.641973	0.3994	0.7507	5008	,	,		13412	0.7659		0.6412	False		,,,				2504	0.7658					ENST00000528089.1																			0																																																			0							g.chr11:67564238C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564238C>T														0	902	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.612	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			4	62	0	0	0	1	0	4	62				
SORL1	6653	broad.mit.edu	37	11	121358800	121358800	+	Silent	SNP	T	T	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:121358800T>A	ENST00000260197.7	+	4	717	c.588T>A	c.(586-588)acT>acA	p.T196T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	196					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTGCAACACTCTTCAAGGCT	0.517																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(586-588)acT>acA		sortilin-related receptor, L(DLR class) A repeats containing							365.0	334.0	344.0					11																	121358800		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121358800T>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.588T>A	11.37:g.121358800T>A						SORL1_ENST00000532451.1_3'UTR	p.T196T	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	4	717	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	196					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.588T>A	CCDS8436.1																																																																																				0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		64	275	0	0	0	1	0	64	275				
TAF1C	9013	broad.mit.edu	37	16	84213255	84213255	+	Silent	SNP	G	G	A	rs145273391		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:84213255G>A	ENST00000567759.1	-	14	2084	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	TAF1C_ENST00000566732.1_Silent_p.A608A|TAF1C_ENST00000541676.1_Silent_p.A541A|TAF1C_ENST00000341690.6_Silent_p.A540A|TAF1C_ENST00000378541.4_Silent_p.A634A|TAF1C_ENST00000570117.1_Silent_p.A302A	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	634					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGCTGCAGCCGGCAGTGTCCT	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15461	0.0		0.0	False		,,,				2504	0.0					ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1900-1902)gcC>gcT		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa		G	,	1,4371		0,1,2185	15.0	17.0	17.0		1902,1620	1.7	0.9	16	dbSNP_134	17	0,8576		0,0,4288	no	coding-synonymous,coding-synonymous	TAF1C	NM_005679.3,NM_139353.2	,	0,1,6473	AA,AG,GG		0.0,0.0229,0.0077	,	634/870,540/776	84213255	1,12947	2186	4288	6474	SO:0001819	synonymous_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213255G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1902C>T	16.37:g.84213255G>A						TAF1C_ENST00000566732.1_Silent_p.A608A|TAF1C_ENST00000570117.1_Silent_p.A302A|TAF1C_ENST00000541676.1_Silent_p.A541A|TAF1C_ENST00000378541.4_Silent_p.A634A|TAF1C_ENST00000341690.6_Silent_p.A540A	p.A634A	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			14	2084	-			634					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	c.1902C>T	CCDS32496.1																																																																																				0.662	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		4	37	0	0	0	1	0	4	37				
ESYT3	83850	broad.mit.edu	37	3	138191379	138191379	+	Missense_Mutation	SNP	G	G	C	rs72976634	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:138191379G>C	ENST00000389567.4	+	18	2101	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	639					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGATACTAAGGACGTATCCAG	0.557													G|||	18	0.00359425	0.0136	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.0					ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(1915-1917)Gac>Cac		extended synaptotagmin-like protein 3		G	HIS/ASP	57,4071		1,55,2008	136.0	151.0	146.0		1915	2.7	0.0	3	dbSNP_130	146	0,8406		0,0,4203	yes	missense	ESYT3	NM_031913.3	81	1,55,6211	CC,CG,GG		0.0,1.3808,0.4548	benign	639/887	138191379	57,12477	2064	4203	6267	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138191379G>C	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1915G>C	3.37:g.138191379G>C	ENSP00000374218:p.Asp639His						p.D639H	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2101	+			639					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1915G>C	CCDS3101.2	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	2.856	-0.237215	0.05944	0.013808	0.0	ENSG00000158220	ENST00000389567	T	0.39229	1.09	4.6	2.69	0.31865	.	3.265660	0.01330	N	0.011232	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.28784	0.094	T	0.21211	-1.0252	10	0.46703	T	0.11	-7.9956	6.8374	0.23943	0.0968:0.3675:0.5357:0.0	.	639	A0FGR9	ESYT3_HUMAN	H	639	ENSP00000374218:D639H	ENSP00000374218:D639H	D	+	1	0	ESYT3	139674069	0.009000	0.17119	0.009000	0.14445	0.022000	0.10575	0.526000	0.22971	1.146000	0.42352	0.462000	0.41574	GAC		0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		6	139	0	0	0	1	0	6	139				
KCNK6	9424	broad.mit.edu	37	19	38817239	38817239	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:38817239G>A	ENST00000263372.3	+	2	436	c.329G>A	c.(328-330)gGg>gAg	p.G110E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	110					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTAGGCTATGGGTACACAACG	0.572																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(328-330)gGg>gAg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						101.0	101.0	101.0					19																	38817239		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817239G>A	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.329G>A	19.37:g.38817239G>A	ENSP00000263372:p.Gly110Glu						p.G110E	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		2	436	+	all_cancers(60;5.83e-07)		110					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.329G>A	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567877	0.86439	.	.	ENSG00000099337	ENST00000263372	D	0.82893	-1.66	4.65	4.65	0.58169	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95449	0.8532	10	0.87932	D	0	.	15.0538	0.71897	0.0:0.0:1.0:0.0	.	110	Q9Y257	KCNK6_HUMAN	E	110	ENSP00000263372:G110E	ENSP00000263372:G110E	G	+	2	0	KCNK6	43509079	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.528000	0.98046	2.422000	0.82143	0.491000	0.48974	GGG		0.572	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		8	134	0	0	0	1	0	8	134				
C19orf48	84798	broad.mit.edu	37	19	51301519	51301519	+	Missense_Mutation	SNP	G	G	C	rs144495841	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:51301519G>C	ENST00000598463.1	-	5	1285	c.187C>G	c.(187-189)Cta>Gta	p.L63V	SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000345523.4_Missense_Mutation_p.L63V|C19orf48_ENST00000595794.1_5'Flank|SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000391812.1_Missense_Mutation_p.L63V|C19orf48_ENST00000596655.1_Missense_Mutation_p.L63V			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	63										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TCCTCCCCTAGCCTGCAGGAA	0.617													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		20123	0.0		0.0	False		,,,				2504	0.0					ENST00000598463.1																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)	4						c.(187-189)Cta>Gta		chromosome 19 open reading frame 48		G	VAL/LEU,VAL/LEU	39,4367	45.3+/-79.5	0,39,2164	126.0	115.0	119.0		187,187	0.9	0.0	19	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C19orf48	NM_199249.1,NM_199250.1	32,32	0,40,6463	CC,CG,GG		0.0116,0.8852,0.3076	probably-damaging,probably-damaging	63/118,63/118	51301519	40,12966	2203	4300	6503	SO:0001583	missense	84798							g.chr19:51301519G>C	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"""multidrug resistance-related protein"""					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.187C>G	19.37:g.51301519G>C	ENSP00000471463:p.Leu63Val					C19orf48_ENST00000391812.1_Missense_Mutation_p.L63V|C19orf48_ENST00000345523.4_Missense_Mutation_p.L63V|C19orf48_ENST00000596655.1_Missense_Mutation_p.L63V	p.L63V			Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	5	1285	-		all_neural(266;0.057)	63						Missense_Mutation	SNP	ENST00000598463.1	37	c.187C>G	CCDS12803.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	2.032	-0.422044	0.04734	0.008852	1.16E-4	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.30981	1.51;1.51	2.07	0.895	0.19247	.	.	.	.	.	T	0.19167	0.0460	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	P	0.53146	0.719	T	0.08106	-1.0738	9	0.42905	T	0.14	.	4.1264	0.10129	0.2444:0.0:0.7556:0.0	.	63	Q6RUI8	CS048_HUMAN	V	63	ENSP00000375688:L63V;ENSP00000301419:L63V	ENSP00000301419:L63V	L	-	1	2	C19orf48	55993331	0.007000	0.16637	0.002000	0.10522	0.001000	0.01503	0.603000	0.24149	0.355000	0.24131	-0.367000	0.07326	CTA		0.617	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		6	122	0	0	0	1	0	6	122				
PCBP3	54039	broad.mit.edu	37	21	47333995	47333995	+	Intron	SNP	A	A	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr21:47333995A>C	ENST00000400314.1	+	10	1013				PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400304.1_Missense_Mutation_p.H212P|PCBP3_ENST00000400310.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3						mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627																																						ENST00000400304.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(634-636)cAc>cCc		poly(rC) binding protein 3							17.0	24.0	22.0					21																	47333995		691	1589	2280	SO:0001627	intron_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47333995A>C	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.675+56A>C	21.37:g.47333995A>C						PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400308.1_Intron	p.H212P			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	7	635	+	all_hematologic(128;0.24)		225					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.635A>C	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513211	0.27123	.	.	ENSG00000183570	ENST00000400304	T	0.48522	0.81	4.95	2.7	0.31948	.	0.165376	0.24041	U	0.042092	T	0.33527	0.0866	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07462	-1.0771	9	0.35671	T	0.21	.	7.244	0.26112	0.741:0.1764:0.0826:0.0	.	212	E9PFP8	.	P	212	ENSP00000383159:H212P	ENSP00000383159:H212P	H	+	2	0	PCBP3	46158423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.683000	0.68189	0.324000	0.23333	0.460000	0.39030	CAC		0.627	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			6	14	0	0	0	1	0	6	14				
EIF3A	8661	broad.mit.edu	37	10	120802275	120802275	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:120802275T>G	ENST00000369144.3	-	19	2884	c.2757A>C	c.(2755-2757)agA>agC	p.R919S	EIF3A_ENST00000541549.1_Missense_Mutation_p.R885S	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTCTCCACGTCTCCACTCCC	0.423																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(2755-2757)agA>agC		eukaryotic translation initiation factor 3, subunit A							95.0	101.0	99.0					10																	120802275		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802275T>G	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2757A>C	10.37:g.120802275T>G	ENSP00000358140:p.Arg919Ser					EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R885S	p.R919S	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	2884	-		Lung NSC(174;0.094)|all_lung(145;0.123)	919					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2757A>C	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227982	0.39399	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24723	1.85;1.84	6.16	2.57	0.30868	.	0.000000	0.40554	N	0.001062	T	0.19046	0.0457	M	0.80746	2.51	0.49915	D	0.999837	P	0.40731	0.728	B	0.31946	0.138	T	0.12993	-1.0526	10	0.18276	T	0.48	-13.9622	0.5004	0.00579	0.2999:0.2738:0.1271:0.2992	.	919	Q14152	EIF3A_HUMAN	S	919;885	ENSP00000358140:R919S;ENSP00000438178:R885S	ENSP00000358140:R919S	R	-	3	2	EIF3A	120792265	0.978000	0.34361	1.000000	0.80357	0.890000	0.51754	-0.002000	0.12924	0.566000	0.29273	0.528000	0.53228	AGA		0.423	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		9	144	0	0	0	1	0	9	144				
ACACB	32	broad.mit.edu	37	12	109690903	109690903	+	Silent	SNP	C	C	T	rs564550427		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:109690903C>T	ENST00000338432.7	+	43	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000377848.3_Silent_p.T1995T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1995	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCCACATCACCGTGCCAGATG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		5710	0.0		0.0	False		,,,				2504	0.001					ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5983-5985)acC>acT		acetyl-CoA carboxylase beta	Biotin(DB00121)						345.0	287.0	307.0					12																	109690903		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109690903C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5985C>T	12.37:g.109690903C>T						ACACB_ENST00000377848.3_Silent_p.T1995T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000543201.1_Silent_p.T661T	p.T1995T			O00763	ACACB_HUMAN			43	6104	+			1995			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.5985C>T	CCDS31898.1																																																																																				0.512	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		33	241	0	0	0	1	0	33	241				
MRPS7	51081	broad.mit.edu	37	17	73258504	73258504	+	Intron	SNP	T	T	C	rs116366134	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr17:73258504T>C	ENST00000245539.6	+	2	310				MRPS7_ENST00000579002.1_Missense_Mutation_p.C33R|GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|MRPS7_ENST00000579761.1_Intron|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000582486.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7						translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TTGGCAGTCATGCCTATTGTT	0.587													T|||	113	0.0225639	0.0832	0.0043	5008	,	,		18609	0.0		0.0	False		,,,				2504	0.0					ENST00000579002.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(97-99)Tgc>Cgc		mitochondrial ribosomal protein S7																																				SO:0001627	intron_variant	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258504T>C	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.84-74T>C	17.37:g.73258504T>C						MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron	p.C33R			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		1	512	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		0					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.97T>C	CCDS11718.1																																																																																				0.587	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		6	132	0	0	0	1	0	6	132				
MRPS5	64969	broad.mit.edu	37	2	95773974	95773974	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:95773974C>T	ENST00000272418.2	-	5	791	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	195					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATGAGTTTCCACTCCATCCT	0.532																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(583-585)Gga>Aga		mitochondrial ribosomal protein S5							195.0	159.0	171.0					2																	95773974		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95773974C>T	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.583G>A	2.37:g.95773974C>T	ENSP00000272418:p.Gly195Arg						p.G195R	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			5	791	-			195					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.583G>A	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401210	0.62288	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	5.08	0.68730	.	0.049253	0.85682	N	0.000000	T	0.80798	0.4692	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.83790	0.0230	9	0.87932	D	0	-21.9676	16.3231	0.82958	0.0:1.0:0.0:0.0	.	195;195	B4DIW8;P82675	.;RT05_HUMAN	R	195	.	ENSP00000272418:G195R	G	-	1	0	MRPS5	95137701	1.000000	0.71417	0.854000	0.33618	0.017000	0.09413	7.183000	0.77697	2.526000	0.85167	0.462000	0.41574	GGA		0.532	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		14	89	0	0	0	1	0	14	89				
WNK3	65267	broad.mit.edu	37	X	54335536	54335536	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chrX:54335536C>A	ENST00000375159.2	-	3	922	c.923G>T	c.(922-924)aGt>aTt	p.S308I	WNK3_ENST00000375169.3_Missense_Mutation_p.S308I|WNK3_ENST00000354646.2_Missense_Mutation_p.S308I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	308	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACCAATGACACTCTTAGCAAA	0.413																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(922-924)aGt>aTt		WNK lysine deficient protein kinase 3							92.0	73.0	79.0					X																	54335536		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54335536C>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.923G>T	X.37:g.54335536C>A	ENSP00000364301:p.Ser308Ile					WNK3_ENST00000375169.3_Missense_Mutation_p.S308I|WNK3_ENST00000375159.2_Missense_Mutation_p.S308I	p.S308I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			4	1361	-			308			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.923G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299425	0.81136	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.26223	1.75;1.75;1.75	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.47154	0.1430	L	0.53671	1.685	0.52099	D	0.999942	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.49072	-0.8977	10	0.87932	D	0	-9.1246	15.9501	0.79827	0.0:1.0:0.0:0.0	.	308;308	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	308	ENSP00000364312:S308I;ENSP00000346667:S308I;ENSP00000364301:S308I	ENSP00000346667:S308I	S	-	2	0	WNK3	54352261	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.688000	0.84153	2.102000	0.63906	0.415000	0.27848	AGT		0.413	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		16	48	1	0	9.16793e-09	1	9.72695e-09	16	48				
ZFPL1	7542	broad.mit.edu	37	11	64855417	64855417	+	Missense_Mutation	SNP	G	G	A	rs570349109		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:64855417G>A	ENST00000294258.3	+	8	916	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	255					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCTGGGTCTCGGAAGCGGCCG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		14689	0.0		0.0	False		,,,				2504	0.001					ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(763-765)cGg>cAg		zinc finger protein-like 1							30.0	34.0	33.0					11																	64855417		2200	4295	6495	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64855417G>A		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.764G>A	11.37:g.64855417G>A	ENSP00000294258:p.Arg255Gln						p.R255Q	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN			8	916	+			255					A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.764G>A	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986456	0.53934	.	.	ENSG00000162300	ENST00000294258	T	0.47177	0.85	5.02	5.02	0.67125	.	0.126462	0.52532	D	0.000070	T	0.51295	0.1666	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	P	0.52710	0.707	T	0.51756	-0.8665	10	0.54805	T	0.06	-12.8953	13.6929	0.62559	0.0:0.0:1.0:0.0	.	255	O95159	ZFPL1_HUMAN	Q	255	ENSP00000294258:R255Q	ENSP00000294258:R255Q	R	+	2	0	ZFPL1	64611993	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	2.947000	0.49058	2.608000	0.88229	0.655000	0.94253	CGG		0.697	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		12	73	0	0	0	1	0	12	73				
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G	rs202198915	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3							metal ion binding (GO:0046872)	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398																																						ENST00000520347.1																			2	Substitution - Missense(2)	p.R3P(2)	ovary(2)	large_intestine(1)|ovary(2)	3						c.(7-9)cGt>cCt		zinc finger protein 706							66.0	63.0	64.0					8																	102213962		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213962C>G	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.8G>C	8.37:g.102213962C>G	ENSP00000430823:p.Arg3Pro					ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P	p.R3P			Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		2	2964	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		3					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.8G>C	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171479	0.57584	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	.	.	.	0.80722	D	1	P	0.35944	0.529	B	0.27796	0.083	T	0.52704	-0.8540	8	0.87932	D	0	-0.2165	12.1205	0.53889	0.0:0.8596:0.0:0.1404	.	3	Q9Y5V0	ZN706_HUMAN	P	3	.	ENSP00000311768:R3P	R	-	2	0	ZNF706	102283138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	1.292000	0.44672	0.655000	0.94253	CGT		0.398	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096		5	24	0	0	0	1	0	5	24				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	31	0	0	0	1	0	3	31				
PTCD1	26024	broad.mit.edu	37	7	99032678	99032678	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:99032678G>A	ENST00000292478.4	-	2	438	c.188C>T	c.(187-189)aCg>aTg	p.T63M	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000485746.1_5'Flank|PTCD1_ENST00000555673.1_Missense_Mutation_p.T112M	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	63					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGCTGCCCGTGTTTTCCTG	0.642																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(187-189)aCg>aTg		pentatricopeptide repeat domain 1							31.0	33.0	32.0					7																	99032678		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99032678G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.188C>T	7.37:g.99032678G>A	ENSP00000292478:p.Thr63Met					PTCD1_ENST00000555673.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T112M	p.T63M	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	438	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.188C>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330229	0.24167	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	T;T;D;D;D;T;T	0.82711	-0.06;-0.06;-1.64;-1.64;-1.61;-1.04;-0.06	5.84	-8.11	0.01082	.	1.068260	0.07170	N	0.852240	T	0.64338	0.2589	L	0.28192	0.835	0.09310	N	1	B;B	0.25048	0.117;0.071	B;B	0.13407	0.009;0.004	T	0.49204	-0.8964	10	0.31617	T	0.26	-0.1642	5.0883	0.14694	0.5253:0.0893:0.2957:0.0896	.	112;63	G3V325;O75127	.;PTCD1_HUMAN	M	63;112;63;63;63;63;112	ENSP00000292478:T63M;ENSP00000450995:T112M;ENSP00000390530:T63M;ENSP00000408059:T63M;ENSP00000401600:T63M;ENSP00000410697:T63M;ENSP00000400168:T112M	ENSP00000400168:T112M	T	-	2	0	ATP5J2-PTCD1;PTCD1	98870614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.480000	0.02325	-1.426000	0.01994	-0.253000	0.11424	ACG		0.642	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		5	63	0	0	0	1	0	5	63				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			15	66	0	0	0	1	0	15	66				
GYG1	2992	broad.mit.edu	37	3	148744693	148744693	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:148744693G>C	ENST00000345003.4	+	8	1326	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	GYG1_ENST00000484197.1_Missense_Mutation_p.R252T|GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_Missense_Mutation_p.K325N	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	342					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACAACATCAAGAGGAAACTTG	0.458																																						ENST00000345003.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8						c.(1024-1026)aaG>aaC		glycogenin 1							88.0	89.0	89.0					3																	148744693		2203	4300	6503	SO:0001583	missense	2992				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding	g.chr3:148744693G>C	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.1026G>C	3.37:g.148744693G>C	ENSP00000340736:p.Lys342Asn					GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_Missense_Mutation_p.K325N|GYG1_ENST00000484197.1_Missense_Mutation_p.R252T	p.K342N	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1326	+			342					D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	c.1026G>C	CCDS3139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.060958|3.060958	0.55432|0.55432	.|.	.|.	ENSG00000163754|ENSG00000163754	ENST00000345003;ENST00000296048|ENST00000484197	T;T|T	0.64991|0.78364	-0.13;-0.12|-1.17	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.094736|.	0.64402|.	D|.	0.000001|.	T|T	0.73613|0.73613	0.3609|0.3609	M|M	0.78637|0.78637	2.42|2.42	0.34553|0.34553	D|D	0.711517|0.711517	B;B|B	0.26512|0.32573	0.12;0.151|0.376	B;B|B	0.32022|0.26770	0.139;0.082|0.073	T|T	0.75065|0.75065	-0.3449|-0.3449	10|9	0.49607|0.11794	T|T	0.09|0.64	-10.0079|-10.0079	12.7999|12.7999	0.57580|0.57580	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	325;342|252	P46976-2;P46976|D3DNH0	.;GLYG_HUMAN|.	N|T	342;325|252	ENSP00000340736:K342N;ENSP00000296048:K325N|ENSP00000420683:R252T	ENSP00000296048:K325N|ENSP00000420683:R252T	K|R	+|+	3|2	2|0	GYG1|GYG1	150227383|150227383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.465000|5.465000	0.66725|0.66725	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.458	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		8	99	0	0	0	1	0	8	99				
MLLT4	4301	broad.mit.edu	37	6	168352193	168352193	+	Missense_Mutation	SNP	G	G	A	rs78299900	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr6:168352193G>A	ENST00000447894.2	+	29	4138	c.4138G>A	c.(4138-4140)Gat>Aat	p.D1380N	MLLT4_ENST00000366806.2_Missense_Mutation_p.D1380N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1363N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1387N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1379N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1380N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1380N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1380	Pro-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGGTGATTTCGATGGAATGTC	0.627			T	MLL	AL								G|||	16	0.00319489	0.0121	0.0	5008	,	,		14149	0.0		0.0	False		,,,				2504	0.0					ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4138-4140)Gat>Aat		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4		G	ASN/ASP,ASN/ASP	52,4354	52.3+/-87.9	0,52,2151	74.0	84.0	81.0		4138,4087	5.3	0.0	6	dbSNP_131	81	0,8600		0,0,4300	yes	missense,missense	MLLT4	NM_001040000.2,NM_001207008.1	23,23	0,52,6451	AA,AG,GG		0.0,1.1802,0.3998	possibly-damaging,possibly-damaging	1380/1652,1363/1744	168352193	52,12954	2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352193G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4138G>A	6.37:g.168352193G>A	ENSP00000404595:p.Asp1380Asn					MLLT4_ENST00000392112.1_Missense_Mutation_p.D1363N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1387N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1380N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1380N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1379N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1380N	p.D1380N			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4280	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1380			Pro-rich.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4138G>A		8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	14.92	2.679267	0.47886	0.011802	0.0	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04970	3.74;3.56;3.73;3.65;3.52;3.56;3.56	5.3	5.3	0.74995	.	0.111969	0.64402	D	0.000012	T	0.12008	0.0292	M	0.63428	1.95	0.28701	N	0.904064	D;D;D;D	0.71674	0.993;0.998;0.995;0.995	P;P;P;P	0.61658	0.719;0.892;0.794;0.794	T	0.02758	-1.1114	10	0.34782	T	0.22	-6.2377	18.9971	0.92818	0.0:0.0:1.0:0.0	.	1380;1379;1380;1364	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	N	1380;1387;1380;1380;1363;1380;1379;1380	ENSP00000341118:D1380N;ENSP00000252692:D1387N;ENSP00000375956:D1380N;ENSP00000355771:D1380N;ENSP00000375960:D1363N;ENSP00000383623:D1379N;ENSP00000404595:D1380N	ENSP00000345834:D1380N	D	+	1	0	MLLT4	168095042	1.000000	0.71417	0.019000	0.16419	0.007000	0.05969	6.411000	0.73298	2.480000	0.83734	0.650000	0.86243	GAT		0.627	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		6	134	0	0	0	1	0	6	134				
QSOX2	169714	broad.mit.edu	37	9	139118662	139118662	+	Silent	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr9:139118662G>A	ENST00000358701.5	-	2	424	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CATGGCACACGGCCTGGTTCT	0.562											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(385-387)gcC>gcT		quiescin Q6 sulfhydryl oxidase 2							280.0	235.0	250.0					9																	139118662		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139118662G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.387C>T	9.37:g.139118662G>A			OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1646		p.A129A	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	2	424	-		Myeloproliferative disorder(178;0.0511)	129			Thioredoxin.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.387C>T	CCDS35178.1																																																																																				0.562	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		8	161	0	0	0	1	0	8	161				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240511	39240511	+	Missense_Mutation	SNP	A	A	T	rs383835	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr17:39240511A>T	ENST00000391417.4	+	1	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	18	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		D -> V. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCAGCCAAGACCTCTGTCAG	0.612													a|||	2763	0.551717	0.6445	0.6081	5008	,	,		14149	0.3879		0.6024	False		,,,				2504	0.5031					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(52-54)gAc>gTc		keratin associated protein 4-7							9.0	17.0	15.0					17																	39240511		677	1582	2259	SO:0001583	missense	100132476							g.chr17:39240511A>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.53A>T	17.37:g.39240511A>T	ENSP00000375236:p.Asp18Val						p.D18V	NM_033061.3	NP_149050.3					1	53	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.53A>T	CCDS45673.1	1033	0.47298534798534797	274	0.556910569105691	200	0.5524861878453039	184	0.32167832167832167	375	0.4947229551451187	.	0.459	-0.889937	0.02511	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00608	6.25	1.02	-1.55	0.08558	.	0.471385	0.15244	U	0.272684	T	0.00012	0.0000	.	.	.	0.53688	P	2.2999999999995246E-5	B	0.20261	0.043	B	0.12156	0.007	T	0.14924	-1.0455	8	0.45353	T	0.12	.	2.8192	0.05467	0.404:0.251:0.345:0.0	rs62068121	18	Q9BYR0	KRA47_HUMAN	V	18	ENSP00000375236:D18V	ENSP00000375236:D18V	D	+	2	0	KRTAP4-9;KRTAP4-7	36494037	0.086000	0.21541	0.114000	0.21550	0.074000	0.17049	0.065000	0.14466	-0.591000	0.05859	0.260000	0.18958	GAC		0.612	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			5	27	0	0	0	1	0	5	27				
FAM86C2P	645332	broad.mit.edu	37	11	67564241	67564241	+	RNA	SNP	C	C	T	rs80309804	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:67564241C>T	ENST00000528089.1	-	0	899							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GTGCTCCCGGCAGGCAGCCAG	0.612													.|||	3216	0.642173	0.3994	0.7507	5008	,	,		13381	0.7669		0.6431	False		,,,				2504	0.7638					ENST00000528089.1																			0																																																			0							g.chr11:67564241C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564241C>T														0	899	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.612	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			4	61	0	0	0	1	0	4	61				
HERPUD2	64224	broad.mit.edu	37	7	35707097	35707097	+	Silent	SNP	T	T	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:35707097T>C	ENST00000396081.1	-	4	1245	c.441A>G	c.(439-441)ccA>ccG	p.P147P	HERPUD2_ENST00000311350.3_Silent_p.P147P|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	147					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTTGTGCTTGTGGAAGGGTAC	0.458																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(439-441)ccA>ccG		HERPUD family member 2							180.0	164.0	169.0					7																	35707097		2203	4300	6503	SO:0001819	synonymous_variant	64224				response to unfolded protein	integral to membrane		g.chr7:35707097T>C	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.441A>G	7.37:g.35707097T>C						HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P147P	p.P147P	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN			4	1245	-			147					A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	c.441A>G	CCDS5446.1																																																																																				0.458	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		28	110	0	0	0	1	0	28	110				
OR5M11	219487	broad.mit.edu	37	11	56310625	56310625	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:56310625C>T	ENST00000528616.2	-	1	132	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGCAGGGTGACGAGGTAAACA	0.473																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(109-111)Gtc>Atc		olfactory receptor, family 5, subfamily M, member 11							125.0	124.0	124.0					11																	56310625		2108	4257	6365	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310625C>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.109G>A	11.37:g.56310625C>T	ENSP00000432417:p.Val37Ile						p.V37I	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	132	-			37					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.109G>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.528204	0.00147	.	.	ENSG00000255223	ENST00000528616	T	0.00578	6.44	5.1	1.09	0.20402	.	.	.	.	.	T	0.00356	0.0011	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45789	-0.9237	9	0.02654	T	1	.	2.0359	0.03539	0.1376:0.4995:0.1337:0.2293	.	37	Q96RB7	OR5MB_HUMAN	I	37	ENSP00000432417:V37I	ENSP00000432417:V37I	V	-	1	0	OR5M11	56067201	0.000000	0.05858	0.017000	0.16124	0.029000	0.11900	-2.413000	0.01038	0.057000	0.16193	-0.181000	0.13052	GTC		0.473	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		5	103	0	0	0	1	0	5	103				
PCDHA10	56139	broad.mit.edu	37	5	140237337	140237337	+	Silent	SNP	C	C	G	rs7725388	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr5:140237337C>G	ENST00000307360.5	+	1	1704	c.1704C>G	c.(1702-1704)ccC>ccG	p.P568P	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	568					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGTCTCCCGCTGGCAGCG	0.692													.|||	129	0.0257588	0.0946	0.0043	5008	,	,		14471	0.0		0.001	False		,,,				2504	0.0					ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1702-1704)ccC>ccG				C	,,,,,,,,,,,,,	191,2451		11,169,1141	28.0	29.0	29.0		,1704,,,,,,,,,,,1704,	-0.7	0.0	5	dbSNP_116	29	2,4572		0,2,2285	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,,,,,,,,,,,,,	11,171,3426	GG,GC,CC		0.0437,7.2294,2.6746	,,,,,,,,,,,,,	,568/949,,,,,,,,,,,568/845,	140237337	193,7023	1321	2287	3608	SO:0001819	synonymous_variant	0							g.chr5:140237337C>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1704C>G	5.37:g.140237337C>G						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.P568P	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1704	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1704C>G	CCDS54921.1																																																																																				0.692	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	66	0	0	0	1	0	4	66				
KIAA1462	57608	broad.mit.edu	37	10	30318651	30318651	+	Silent	SNP	G	G	A	rs374167700		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:30318651G>A	ENST00000375377.1	-	3	527	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	142					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCAGGCTGTGGGCTTGGGCCA	0.572																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(424-426)gcC>gcT		KIAA1462							216.0	213.0	214.0					10																	30318651		2086	4228	6314	SO:0001819	synonymous_variant	57608							g.chr10:30318651G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.426C>T	10.37:g.30318651G>A							p.A142A	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	527	-			142					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.426C>T	CCDS41500.1																																																																																				0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		34	227	0	0	0	1	0	34	227				
NRAP	4892	broad.mit.edu	37	10	115380379	115380379	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:115380379C>T	ENST00000359988.3	-	25	3102	c.2858G>A	c.(2857-2859)gGa>gAa	p.G953E	NRAP_ENST00000360478.3_Missense_Mutation_p.G918E|NRAP_ENST00000369358.4_Missense_Mutation_p.G961E|NRAP_ENST00000369360.3_Missense_Mutation_p.G926E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AATGAGTTCTCCTGCCTTCTT	0.498																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2881-2883)gGa>gAa		nebulin-related anchoring protein							151.0	131.0	137.0					10																	115380379		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115380379C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2858G>A	10.37:g.115380379C>T	ENSP00000353078:p.Gly953Glu					NRAP_ENST00000359988.3_Missense_Mutation_p.G953E|NRAP_ENST00000369360.3_Missense_Mutation_p.G926E|NRAP_ENST00000360478.3_Missense_Mutation_p.G918E	p.G961E			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	25	3126	-		Colorectal(252;0.0233)|Breast(234;0.188)	953						Missense_Mutation	SNP	ENST00000359988.3	37	c.2882G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182464	0.78677	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.17370	2.49;2.5;2.37;2.28	5.96	5.96	0.96718	.	0.107777	0.64402	D	0.000004	T	0.43500	0.1250	M	0.78456	2.415	0.50313	D	0.999864	D;D;D	0.71674	0.998;0.998;0.974	D;D;P	0.72625	0.951;0.978;0.722	T	0.13522	-1.0506	10	0.45353	T	0.12	.	15.8525	0.78943	0.0:0.8652:0.1348:0.0	.	953;918;953	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	E	961;926;953;918	ENSP00000358365:G961E;ENSP00000358367:G926E;ENSP00000353078:G953E;ENSP00000353666:G918E	ENSP00000353078:G953E	G	-	2	0	NRAP	115370369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.568000	0.67385	2.832000	0.97577	0.655000	0.94253	GGA		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		8	102	0	0	0	1	0	8	102				
NRXN1	9378	broad.mit.edu	37	2	50723230	50723230	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:50723230G>C	ENST00000406316.2	-	15	4359	c.2883C>G	c.(2881-2883)taC>taG	p.Y961*	NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.Y1001*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y961*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	961	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTAATGTAAGTACCTGGGAA	0.353																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3001-3003)taC>taG		neurexin 1							63.0	51.0	55.0					2																	50723230		1863	4110	5973	SO:0001587	stop_gained	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50723230G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2883C>G	2.37:g.50723230G>C	ENSP00000384311:p.Tyr961*					NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000331040.5_5'UTR	p.Y1001*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		16	4342	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	961			Laminin G-like 5.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.3003C>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	51	17.563971	0.99889	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4676	0.21990	0.2089:0.0:0.7911:0.0	.	.	.	.	X	1001;961;953;961;1002;953;961	.	.	Y	-	3	2	NRXN1	50576734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.710000	0.37920	2.844000	0.97970	0.650000	0.86243	TAC		0.353	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	11	0	0	0	1	0	4	11				
SDPR	8436	broad.mit.edu	37	2	192700918	192700918	+	Missense_Mutation	SNP	G	G	A	rs115736105	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:192700918G>A	ENST00000304141.4	-	2	1338	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCTTCGGAATGACCCTCTGCA	0.567													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		18610	0.0		0.0	False		,,,				2504	0.0					ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(1009-1011)Cat>Tat		serum deprivation response	Phosphatidylserine(DB00144)	G	TYR/HIS	22,4384	29.0+/-57.7	0,22,2181	104.0	105.0	105.0		1009	2.2	0.0	2	dbSNP_132	105	0,8600		0,0,4300	yes	missense	SDPR	NM_004657.5	83	0,22,6481	AA,AG,GG		0.0,0.4993,0.1692	benign	337/426	192700918	22,12984	2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192700918G>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1009C>T	2.37:g.192700918G>A	ENSP00000305675:p.His337Tyr						p.H337Y	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1338	-			337						Missense_Mutation	SNP	ENST00000304141.4	37	c.1009C>T	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385454	0.25031	0.004993	0.0	ENSG00000168497	ENST00000304141	T	0.64991	-0.13	5.01	2.15	0.27550	.	1.803300	0.02516	N	0.092034	T	0.47893	0.1470	L	0.38175	1.15	0.09310	N	1	P	0.34757	0.467	B	0.34138	0.176	T	0.33624	-0.9861	10	0.02654	T	1	2.9064	5.2946	0.15745	0.0728:0.2693:0.5187:0.1392	.	337	O95810	SDPR_HUMAN	Y	337	ENSP00000305675:H337Y	ENSP00000305675:H337Y	H	-	1	0	SDPR	192409163	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.410000	0.34691	0.281000	0.22233	0.563000	0.77884	CAT		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		7	146	0	0	0	1	0	7	146				
WASH6P	653440	broad.mit.edu	37	X	155254983	155254983	+	RNA	SNP	G	G	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chrX:155254983G>C	ENST00000461007.1	+	0	3899				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CATCCCTCCTGTGCCCCCACC	0.647																																						ENST00000285718.7																			0																																																			0							g.chrX:155254983G>C	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254983G>C						WASH6P_ENST00000461007.1_RNA								0	1288	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37			.	.	.	.	.	.	.	.	.	.	N	0.051	-1.251151	0.01469	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.152378	0.45361	N	0.000371	T	0.08935	0.0221	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32719	-0.9896	5	0.02654	T	1	-7.9868	.	.	.	.	.	.	.	L	461;430	.	ENSP00000285718:V430L	V	+	1	0	WASH6P	154908177	0.837000	0.29446	0.228000	0.23943	0.087000	0.18053	1.751000	0.38339	-0.495000	0.06659	-1.183000	0.01708	GTG		0.647	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	42	0	0	0	1	0	4	42				
LATS2	26524	broad.mit.edu	37	13	21557659	21557659	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr13:21557659A>T	ENST00000382592.4	-	5	2591	c.2186T>A	c.(2185-2187)gTc>gAc	p.V729D	LATS2_ENST00000542899.1_Missense_Mutation_p.V729D	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GTAGAGTTTGACCACCCACTC	0.537																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2185-2187)gTc>gAc		large tumor suppressor kinase 2							173.0	165.0	168.0					13																	21557659		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21557659A>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2186T>A	13.37:g.21557659A>T	ENSP00000372035:p.Val729Asp					LATS2_ENST00000542899.1_Missense_Mutation_p.V729D	p.V729D	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	5	2591	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	729			Protein kinase.			Missense_Mutation	SNP	ENST00000382592.4	37	c.2186T>A	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171454	0.78452	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.15603	2.41;2.41	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000008	T	0.54951	0.1890	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70011	-0.4989	10	0.87932	D	0	.	15.2563	0.73588	1.0:0.0:0.0:0.0	.	729	Q9NRM7	LATS2_HUMAN	D	729	ENSP00000372035:V729D;ENSP00000441817:V729D	ENSP00000372035:V729D	V	-	2	0	LATS2	20455659	1.000000	0.71417	0.987000	0.45799	0.815000	0.46073	9.081000	0.94049	2.188000	0.69820	0.454000	0.30748	GTC		0.537	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			13	172	0	0	0	1	0	13	172				
TLR6	10333	broad.mit.edu	37	4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T	rs556706627		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:38829218C>T	ENST00000381950.1	-	1	1942	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_ENST00000436693.2_Missense_Mutation_p.R626H			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	626					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20313	0.0		0.001	False		,,,				2504	0.0					ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1876-1878)cGc>cAc		toll-like receptor 6							98.0	96.0	97.0					4																	38829218		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829218C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1877G>A	4.37:g.38829218C>T	ENSP00000371376:p.Arg626His					TLR6_ENST00000381950.1_Missense_Mutation_p.R626H	p.R626H	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	1996	-			626					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1877G>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.807402	0.00606	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.09723	2.95;2.95	4.29	-8.58	0.00897	.	0.861964	0.10184	N	0.705435	T	0.05640	0.0148	N	0.16903	0.455	0.09310	N	0.999998	B	0.12013	0.005	B	0.10450	0.005	T	0.35748	-0.9776	10	0.23302	T	0.38	.	13.5409	0.61672	0.0869:0.1805:0.0:0.7327	.	626	Q9Y2C9	TLR6_HUMAN	H	626	ENSP00000389600:R626H;ENSP00000371376:R626H	ENSP00000371376:R626H	R	-	2	0	TLR6	38505613	0.000000	0.05858	0.090000	0.20809	0.079000	0.17450	-1.074000	0.03427	-2.583000	0.00461	-1.199000	0.01669	CGC		0.502	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			21	106	0	0	0	1	0	21	106				
ARMC5	79798	broad.mit.edu	37	16	31470908	31470908	+	Silent	SNP	G	G	A	rs375181224	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:31470908G>A	ENST00000563544.1	+	2	609	c.63G>A	c.(61-63)gcG>gcA	p.A21A	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Silent_p.A53A|ARMC5_ENST00000457010.2_Silent_p.A21A|ARMC5_ENST00000408912.3_Silent_p.A116A|ARMC5_ENST00000268314.4_Silent_p.A21A|ARMC5_ENST00000412665.2_5'Flank			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	21										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCTCGCGGCGGCGGCCGGGG	0.711													G|||	16	0.00319489	0.0121	0.0	5008	,	,		11332	0.0		0.0	False		,,,				2504	0.0					ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(61-63)gcG>gcA		armadillo repeat containing 5		G	,	39,3767		0,39,1864	10.0	15.0	13.0		63,63	2.6	1.0	16		13	0,8180		0,0,4090	no	coding-synonymous,coding-synonymous	ARMC5	NM_001105247.1,NM_024742.2	,	0,39,5954	AA,AG,GG		0.0,1.0247,0.3254	,	21/936,21/726	31470908	39,11947	1903	4090	5993	SO:0001819	synonymous_variant	79798						binding	g.chr16:31470908G>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.63G>A	16.37:g.31470908G>A						ARMC5_ENST00000268314.4_Silent_p.A21A|ARMC5_ENST00000408912.3_Silent_p.A116A|ARMC5_ENST00000538189.1_Silent_p.A53A|ARMC5_ENST00000563544.1_Silent_p.A21A|RP11-452L6.5_ENST00000564629.1_RNA	p.A21A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			1	764	+			21					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.63G>A	CCDS45472.1																																																																																				0.711	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	16	0	0	0	1	0	3	16				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						ENST00000300131.3																			1	Substitution - Missense(1)	p.F208L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Ttc>Ctc		NGFI-A binding protein 2 (EGR1 binding protein 2)							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu					NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L	p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		7	38	0	0	0	1	0	7	38				
CEP170B	283638	broad.mit.edu	37	14	105360916	105360916	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr14:105360916C>A	ENST00000414716.3	+	18	4636	c.4408C>A	c.(4408-4410)Cag>Aag	p.Q1470K	CEP170B_ENST00000453495.1_Missense_Mutation_p.Q1506K|CEP170B_ENST00000556508.1_Missense_Mutation_p.Q1435K|CEP170B_ENST00000418279.1_Missense_Mutation_p.Q1400K	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1505						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGTGCAGAAACAGCTGGAAGG	0.617																																						ENST00000453495.1																			0											c.(4516-4518)Cag>Aag		centrosomal protein 170B							47.0	61.0	56.0					14																	105360916		2106	4204	6310	SO:0001583	missense	283638							g.chr14:105360916C>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4408C>A	14.37:g.105360916C>A	ENSP00000404151:p.Gln1470Lys					CEP170B_ENST00000556508.1_Missense_Mutation_p.Q1435K|CEP170B_ENST00000414716.3_Missense_Mutation_p.Q1470K|CEP170B_ENST00000418279.1_Missense_Mutation_p.Q1400K	p.Q1506K							18	4744	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.4516C>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612598	0.66672	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.56776	0.53;0.45;0.44;0.56	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	M	0.73962	2.25	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.993;0.998	D;D;D	0.85130	0.997;0.952;0.997	T	0.76305	-0.3008	10	0.72032	D	0.01	-33.2329	16.4836	0.84171	0.0:1.0:0.0:0.0	.	1470;1505;1400	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	K	1435;1470;1506;1400;138	ENSP00000451249:Q1435K;ENSP00000404151:Q1470K;ENSP00000407238:Q1506K;ENSP00000415006:Q1400K	ENSP00000251181:Q122K	Q	+	1	0	KIAA0284	104431961	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	6.789000	0.75110	2.452000	0.82932	0.555000	0.69702	CAG		0.617	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	28	1	0	0.115264	1	0.115264	3	28				
OTOGL	283310	broad.mit.edu	37	12	80749688	80749688	+	Silent	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:80749688C>T	ENST00000547103.1	+	46	5709	c.5703C>T	c.(5701-5703)ggC>ggT	p.G1901G	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Silent_p.G1913G			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1901					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGTCATGGGCATCATTGATA	0.393																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5737-5739)ggC>ggT		otogelin-like							246.0	230.0	235.0					12																	80749688		1917	4140	6057	SO:0001819	synonymous_variant	283310							g.chr12:80749688C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5703C>T	12.37:g.80749688C>T						OTOGL_ENST00000547103.1_Silent_p.G1901G	p.G1913G	NM_173591.3	NP_775862.3					46	5745	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.5739C>T		.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246507	0.01481	.	.	ENSG00000165899	ENST00000298820	.	.	.	5.18	1.01	0.19927	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21621	-1.0240	4	.	.	.	.	0.7636	0.01011	0.162:0.3201:0.1587:0.3592	.	.	.	.	V	356	.	.	A	+	2	0	OTOGL	79273819	0.971000	0.33674	0.014000	0.15608	0.046000	0.14306	1.022000	0.30052	0.192000	0.20272	0.591000	0.81541	GCA		0.393	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		22	181	0	0	0	1	0	22	181				
N4BP2	55728	broad.mit.edu	37	4	40104251	40104252	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:40104251_40104252insA	ENST00000261435.6	+	4	1202_1203	c.786_787insA	c.(787-789)aatfs	p.N263fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	263					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTAGCAGTCTCAATCAAAAACA	0.411																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(784-789)ctatcafs		NEDD4 binding protein 2																																				SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104251_40104252insA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.788dupA	4.37:g.40104253_40104253dupA	ENSP00000261435:p.Asn263fs						p.S263fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			4	1202_1203	+			263					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Ins	INS	ENST00000261435.6	37	c.786_787insA	CCDS3457.1																																																																																				0.411	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		12	51						12	51	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)cttfs	p.L150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.L150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(448-450)tggfs		olfactory receptor, family 4, subfamily N, member 2																																				SO:0001589	frameshift_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296055_20296056insT		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.450dupT	14.37:g.20296057_20296057dupT	ENSP00000319601:p.Leu150fs					OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.W150fs	p.W150fs			Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	448_449	+	all_cancers(95;0.00108)		150					Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	c.448_449insT	CCDS32022.1																																																																																				0.530	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			49	393						49	393	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19580757	19580757	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:19580757delA	ENST00000251143.5	+	3	141	c.129delA	c.(127-129)tcafs	p.S43fs	C16orf62_ENST00000542263.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000538853.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000438132.3_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000417362.2_Frame_Shift_Del_p.S43fs			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	43						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCACAGAGTCAAAGACAAAGA	0.527																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(394-396)tcfs		chromosome 16 open reading frame 62							49.0	50.0	50.0					16																	19580757		2197	4300	6497	SO:0001589	frameshift_variant	57020					integral to membrane		g.chr16:19580757delA		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.129delA	16.37:g.19580757delA	ENSP00000251143:p.Ser43fs					C16orf62_ENST00000542263.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000251143.5_Frame_Shift_Del_p.S43fs|C16orf62_ENST00000538853.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000417362.2_Frame_Shift_Del_p.S43fs	p.S132fs	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			3	444	+			43					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Frame_Shift_Del	DEL	ENST00000251143.5	37	c.396delA																																																																																					0.527	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		8	50						8	50	---	---	---	---
