#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
KDM6A	7403	genome.wustl.edu	37	X	44918514	44918514	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chrX:44918514C>A	ENST00000377967.4	+	12	1038	c.997C>A	c.(997-999)Cag>Aag	p.Q333K	KDM6A_ENST00000543216.1_Missense_Mutation_p.Q333K|KDM6A_ENST00000382899.4_Missense_Mutation_p.Q333K|KDM6A_ENST00000536777.1_Missense_Mutation_p.Q333K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	333	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.Q333*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGCAAAATCAGCCCATGGA	0.403			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	10	Whole gene deletion(6)|Substitution - Nonsense(2)|No detectable mRNA/protein(2)	oesophagus(4)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|pancreas(2)	X											79.0	64.0	69.0					X																	44918514		2203	4300	6503	44803458	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.997C>A	X.37:g.44918514C>A	ENSP00000367203:p.Gln333Lys	26	0.00	0		2	95.24	40	44803458	7	92.71	89	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMSmart_JmjC,HMMPfam_JmjC,HMMSmart_TPR,superfamily_SSF48452	p.Q333K	ENST00000377967.4	37	c.997	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212089	0.58452	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.58060	0.36;0.36;0.79;0.36	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.83483	2.645	0.54753	D	0.999986	P;D;D;D;D	0.67145	0.811;0.994;0.996;0.963;0.996	P;D;D;D;D	0.79108	0.879;0.992;0.989;0.973;0.989	T	0.76291	-0.3013	10	0.41790	T	0.15	-6.7935	18.6299	0.91357	0.0:1.0:0.0:0.0	.	333;333;333;333;333	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	K	333	ENSP00000367203:Q333K;ENSP00000437405:Q333K;ENSP00000372355:Q333K;ENSP00000443078:Q333K	ENSP00000367203:Q333K	Q	+	1	0	KDM6A	44803458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.343000	0.79666	0.513000	0.50165	CAG	-	HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452		0.403	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTX	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44803458	+1	no_errors	NM_021140.2	genbank	human	validated	54_36p	missense	SNP	1.000	A
OR13H1	347468	genome.wustl.edu	37	X	130678939	130678939	+	Missense_Mutation	SNP	C	C	T	rs571641755		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chrX:130678939C>T	ENST00000338616.3	+	1	990	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGATGTTAAACGGGCAATAAG	0.398																																						dbGAP											0			X											80.0	76.0	77.0					X																	130678939		2201	4292	6493	130506620	SO:0001583	missense	0				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.892C>T	X.37:g.130678939C>T	ENSP00000340748:p.Arg298Trp	52	0.00	0		0	100.00	2	130506620	25	84.34	167	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.R298W	ENST00000338616.3	37	c.892	CCDS35396.1	X	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431281	0.25813	.	.	ENSG00000171054	ENST00000338616	T	0.40476	1.03	4.87	2.14	0.27477	.	0.369652	0.19507	U	0.112602	T	0.32164	0.0820	L	0.51914	1.62	0.09310	N	1	P	0.47841	0.901	B	0.40329	0.326	T	0.26916	-1.0089	10	0.87932	D	0	.	4.482	0.11771	0.0885:0.149:0.6058:0.1566	.	298	Q8NG92	O13H1_HUMAN	W	298	ENSP00000340748:R298W	ENSP00000340748:R298W	R	+	1	2	OR13H1	130506620	0.013000	0.17824	0.110000	0.21437	0.625000	0.37756	1.008000	0.29872	0.130000	0.18549	-0.186000	0.12905	CGG	-	superfamily_SSF81321		0.398	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	protein_coding	OTTHUMT00000058297.1	C			130506620	+1	no_errors	NM_001004486.1	genbank	human	provisional	54_36p	missense	SNP	0.967	T
CROCC	9696	genome.wustl.edu	37	1	17275382	17275382	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr1:17275382G>A	ENST00000375541.5	+	19	2866	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGGAAGCCGAGGGGCAGGC	0.662																																						dbGAP											0			1											22.0	27.0	25.0					1																	17275382		2169	4240	6409	17147969	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2797G>A	1.37:g.17275382G>A	ENSP00000364691:p.Glu933Lys	32	0.00	0		13	0.00	0	17147969	39	22.00	11		Missense_Mutation	SNP	superfamily_Prefoldin	p.E933K	ENST00000375541.5	37	c.2797	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992618	0.74703	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.24350	1.86	4.38	4.38	0.52667	.	.	.	.	.	T	0.21427	0.0516	L	0.41492	1.28	0.48040	D	0.999579	P;P	0.41748	0.761;0.641	B;B	0.35182	0.197;0.116	T	0.06445	-1.0826	9	0.51188	T	0.08	.	15.2441	0.73493	0.0:0.0:1.0:0.0	.	236;933	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	K	933;814	ENSP00000364691:E933K	ENSP00000364691:E933K	E	+	1	0	CROCC	17147969	1.000000	0.71417	0.180000	0.23079	0.929000	0.56500	6.930000	0.75858	2.374000	0.81015	0.557000	0.71058	GAG	-	NULL		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17147969	+1	no_errors	NM_014675.3	genbank	human	validated	54_36p	missense	SNP	0.870	A
ZNF687	57592	genome.wustl.edu	37	1	151260427	151260427	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr1:151260427C>T	ENST00000368879.2	+	2	1758	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCACTATGACCGTCGGAGCAT	0.632																																						dbGAP											0			1											64.0	59.0	61.0					1																	151260427		2203	4300	6503	149527051	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1660C>T	1.37:g.151260427C>T	ENSP00000357874:p.Arg554Cys	27	0.00	0		22	43.59	17	149527051	42	41.10	30	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R554C	ENST00000368879.2	37	c.1660		1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544420	0.65198	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.46451	0.87;0.87;0.87	5.3	4.39	0.52855	.	0.000000	0.35739	N	0.003019	T	0.43100	0.1232	M	0.67625	2.065	0.80722	D	1	D;D;D	0.65815	0.99;0.995;0.987	P;P;P	0.53006	0.686;0.715;0.566	T	0.50021	-0.8876	10	0.62326	D	0.03	.	14.361	0.66771	0.1495:0.8505:0.0:0.0	.	554;554;554	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	C	554	ENSP00000336620:R554C;ENSP00000319829:R554C;ENSP00000357874:R554C	ENSP00000319829:R554C	R	+	1	0	ZNF687	149527051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.458000	0.45014	1.453000	0.47775	0.561000	0.74099	CGT	-	superfamily_C2H2 and C2HC zinc fingers		0.632	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	protein_coding		C	NM_020832		149527051	+1	no_errors	NM_020832.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T
NRXN1	9378	genome.wustl.edu	37	2	50758395	50758395	+	Missense_Mutation	SNP	C	C	T	rs199548487		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr2:50758395C>T	ENST00000406316.2	-	11	3793	c.2317G>A	c.(2317-2319)Gca>Aca	p.A773T	NRXN1_ENST00000404971.1_Missense_Mutation_p.A813T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A773T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A773T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A765T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.A765T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	773	Laminin G-like 4. {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)			ACACGTCCTGCGTCTAGCTCC	0.478																																						dbGAP											0			2											65.0	70.0	68.0					2																	50758395		2043	4219	6262	50611899	SO:0001583	missense	0			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.2317G>A	2.37:g.50758395C>T	ENSP00000384311:p.Ala773Thr	30	0.00	0		NA	NA	NA	50611899	119	42.31	88	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin	p.A773T	ENST00000406316.2	37	c.2317	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786873	0.70337	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.76	5.76	0.90799	.	0.157311	0.56097	D	0.000029	T	0.72431	0.3459	L	0.41824	1.3	0.35312	D	0.783985	P;D;P	0.57899	0.878;0.981;0.954	B;B;B	0.41571	0.199;0.36;0.307	T	0.76027	-0.3109	10	0.29301	T	0.29	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	813;773;765	Q9ULB1-3;F8WB18;A7E294	.;.;.	T	813;773;765;773;814;765;773	ENSP00000385142:A813T;ENSP00000384311:A773T;ENSP00000434015:A765T;ENSP00000385017:A773T;ENSP00000385434:A765T;ENSP00000385681:A773T	ENSP00000385017:A773T	A	-	1	0	NRXN1	50611899	1.000000	0.71417	0.982000	0.44146	0.958000	0.62258	3.276000	0.51646	2.871000	0.98454	0.655000	0.94253	GCA	-	HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	C			50611899	-1	no_errors	NM_004801.1	genbank	human	reviewed	54_36p	missense	SNP	0.977	T
AC012501.2	0	genome.wustl.edu	37	2	154277404	154277404	+	RNA	SNP	C	C	T	rs540948876		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr2:154277404C>T	ENST00000424322.1	-	0	1172																											TCAGCATGCACGCAGCTCTCT	0.493													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21788	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			2																																								153985650			0																															2.37:g.154277404C>T		33	2.94	1		NA	NA	NA	153985650	109	48.64	107		RNA	SNP	-	NULL	ENST00000424322.1	37	NULL		2																																																																																			-	-		0.493	AC012501.2-003	KNOWN	basic	sense_overlapping	LOC642635	sense_overlapping	OTTHUMT00000332581.1	C			153985650	-1	pseudogene	XR_016188.2	genbank	human	model	54_36p	rna	SNP	1.000	T
HCN1	348980	genome.wustl.edu	37	5	45262184	45262184	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr5:45262184G>T	ENST00000303230.4	-	8	2569	c.2512C>A	c.(2512-2514)Cgc>Agc	p.R838S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	838					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGGTGACGCGCTGCGGGACA	0.672																																						dbGAP											0			5											38.0	43.0	42.0					5																	45262184		2203	4300	6503	45297941	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2512C>A	5.37:g.45262184G>T	ENSP00000307342:p.Arg838Ser	9	0.00	0		NA	NA	NA	45297941	27	47.06	24		Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324	p.R838S	ENST00000303230.4	37	c.2512	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	g	10.30	1.312169	0.23821	.	.	ENSG00000164588	ENST00000303230	D	0.98264	-4.83	4.91	1.32	0.21799	.	0.000000	0.53938	D	0.000056	D	0.97371	0.9140	L	0.34521	1.04	0.42662	D	0.993481	D	0.63880	0.993	D	0.74023	0.982	D	0.94674	0.7859	10	0.14252	T	0.57	.	14.1859	0.65605	0.0:0.0:0.408:0.592	.	838	O60741	HCN1_HUMAN	S	838	ENSP00000307342:R838S	ENSP00000307342:R838S	R	-	1	0	HCN1	45297941	0.415000	0.25416	0.997000	0.53966	0.947000	0.59692	0.188000	0.17018	0.492000	0.27815	0.651000	0.88453	CGC	-	NULL		0.672	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	protein_coding	OTTHUMT00000253847.1	G	NM_021072		45297941	-1	no_errors	NM_021072.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
OPRM1	4988	genome.wustl.edu	37	6	154411016	154411016	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr6:154411016G>T	ENST00000330432.7	+	2	583	c.346G>T	c.(346-348)Gat>Tat	p.D116Y	OPRM1_ENST00000524163.1_Missense_Mutation_p.D116Y|OPRM1_ENST00000428397.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000522236.1_Missense_Mutation_p.D16Y|OPRM1_ENST00000414028.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000435918.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000518759.1_Missense_Mutation_p.D35Y|OPRM1_ENST00000452687.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000419506.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000434900.2_Missense_Mutation_p.D209Y|OPRM1_ENST00000522555.1_Missense_Mutation_p.D16Y|OPRM1_ENST00000520708.1_Missense_Mutation_p.D16Y|OPRM1_ENST00000360422.4_Missense_Mutation_p.D116Y|OPRM1_ENST00000229768.5_Missense_Mutation_p.D116Y|OPRM1_ENST00000337049.4_Missense_Mutation_p.D116Y	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	116					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGCTCTGGCAGATGCCTTAGC	0.443																																						dbGAP											0			6											127.0	120.0	122.0					6																	154411016		2049	4244	6293	154452709	SO:0001583	missense	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.346G>T	6.37:g.154411016G>T	ENSP00000328264:p.Asp116Tyr	57	0.00	0		NA	NA	NA	154452709	132	34.33	69	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.D116Y	ENST00000330432.7	37	c.346	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326815	0.81690	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	H	0.99026	4.405	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999;0.999;0.999;1.0;0.999;1.0;0.999;0.999;0.999	D	0.98619	1.0666	10	0.87932	D	0	.	19.4964	0.95075	0.0:0.0:1.0:0.0	.	116;116;116;116;209;35;116;16;116;116;116;116;116	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;P35372-6;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	Y	209;16;35;116;116;116;116;116;116;116;116;116;116;16;16	ENSP00000394624:D209Y;ENSP00000430876:D16Y;ENSP00000430260:D35Y;ENSP00000328264:D116Y;ENSP00000353598:D116Y;ENSP00000411903:D116Y;ENSP00000410497:D116Y;ENSP00000229768:D116Y;ENSP00000403549:D116Y;ENSP00000430097:D116Y;ENSP00000399359:D116Y;ENSP00000413752:D116Y;ENSP00000338381:D116Y;ENSP00000429719:D16Y;ENSP00000429373:D16Y	ENSP00000229768:D116Y	D	+	1	0	OPRM1	154452709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.610000	0.88304	0.655000	0.94253	GAT	-	HMMPfam_7tm_1,superfamily_SSF81321		0.443	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154452709	+1	no_errors	NM_001008505.3	genbank	human	validated	54_36p	missense	SNP	1.000	T
SCRIB	23513	genome.wustl.edu	37	8	144891739	144891739	+	Silent	SNP	G	G	C	rs201891728		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr8:144891739G>C	ENST00000320476.3	-	14	1686	c.1680C>G	c.(1678-1680)gcC>gcG	p.A560A	SCRIB_ENST00000377533.3_Silent_p.A479A|SCRIB_ENST00000356994.2_Silent_p.A560A	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	560	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGTCCTCTTCGGCGTCTTCCT	0.697																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0			8											78.0	75.0	76.0					8																	144891739		2203	4300	6503	144963727	SO:0001819	synonymous_variant	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1680C>G	8.37:g.144891739G>C		21	0.00	0		25	26.47	9	144963727	22	26.67	8	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like	p.A560	ENST00000320476.3	37	c.1680	CCDS6411.1	8																																																																																			-	NULL		0.697	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144963727	-1	no_errors	NM_182706.3	genbank	human	validated	54_36p	silent	SNP	0.044	C
C9orf78	51759	genome.wustl.edu	37	9	132590500	132590500	+	Missense_Mutation	SNP	G	G	C	rs147768922	byFrequency	TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr9:132590500G>C	ENST00000372447.3	-	9	863	c.810C>G	c.(808-810)aaC>aaG	p.N270K	C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	270						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TTGCCTTCTCGTTAGCAGGAC	0.478																																						dbGAP											0			9											197.0	171.0	180.0					9																	132590500		2203	4300	6503	131630321	SO:0001583	missense	0			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.810C>G	9.37:g.132590500G>C	ENSP00000361524:p.Asn270Lys	25	0.00	0		55	43.88	43	131630321	86	44.59	70	B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	HMMPfam_Hep_59	p.N270K	ENST00000372447.3	37	c.810	CCDS6931.1	9	.	.	.	.	.	.	.	.	.	.	G	8.785	0.929222	0.18131	.	.	ENSG00000136819	ENST00000372447	T	0.42131	0.98	5.56	-11.1	0.00147	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.35414	1.06	0.43531	D	0.995818	P	0.35155	0.487	B	0.27608	0.081	T	0.51849	-0.8653	10	0.05620	T	0.96	.	15.5528	0.76167	0.7452:0.0:0.1791:0.0757	.	270	Q9NZ63	CI078_HUMAN	K	270	ENSP00000361524:N270K	ENSP00000361524:N270K	N	-	3	2	C9orf78	131630321	0.075000	0.21258	0.304000	0.25085	0.678000	0.39670	-0.491000	0.06474	-2.421000	0.00563	-1.087000	0.02190	AAC	-	NULL		0.478	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	protein_coding	OTTHUMT00000054625.1	G	NM_016520		131630321	-1	no_errors	NM_016520.2	genbank	human	validated	54_36p	missense	SNP	0.973	C
KIAA1217	56243	genome.wustl.edu	37	10	24762592	24762592	+	Missense_Mutation	SNP	G	G	A	rs368870981		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr10:24762592G>A	ENST00000376454.3	+	6	1312	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	KIAA1217_ENST00000396446.1_Missense_Mutation_p.A146T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A146T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A428T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A146T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A348T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A349T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A428T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A146T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	428					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCACCGCACCGCCATCCGGTC	0.498																																						dbGAP											0			10						G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	78.0	69.0	72.0		1042,1282,1282	5.6	0.3	10		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	348/1265,428/1310,428/1944	24762592	1,13005	2203	4300	6503	24802598	SO:0001583	missense	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1282G>A	10.37:g.24762592G>A	ENSP00000365637:p.Ala428Thr	47	0.00	0		1	75.00	3	24802598	132	36.36	76	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	NULL	p.A428T	ENST00000376454.3	37	c.1282	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268777	0.40095	0.0	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.55	5.55	0.83447	.	0.050373	0.85682	D	0.000000	T	0.57829	0.2080	L	0.47716	1.5	0.41231	D	0.986579	P;B;P;B;D;D;D;P	0.89917	0.88;0.349;0.937;0.314;0.99;0.972;1.0;0.48	B;B;B;B;P;P;D;B	0.87578	0.173;0.12;0.281;0.144;0.496;0.496;0.998;0.071	T	0.56505	-0.7968	10	0.39692	T	0.17	.	8.7702	0.34728	0.0753:0.0:0.774:0.1507	.	428;428;146;146;146;146;428;428	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	348;428;428;146;428;428;278;349;146;146;146;146;146	ENSP00000365645:A348T;ENSP00000365639:A428T;ENSP00000392625:A428T;ENSP00000365637:A428T;ENSP00000365635:A428T;ENSP00000404798:A278T;ENSP00000389680:A349T;ENSP00000302343:A146T;ENSP00000379722:A146T;ENSP00000365634:A146T;ENSP00000379723:A146T	ENSP00000302343:A146T	A	+	1	0	KIAA1217	24802598	0.999000	0.42202	0.297000	0.24988	0.682000	0.39822	3.152000	0.50677	2.622000	0.88805	0.655000	0.94253	GCC	-	NULL		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	G	NM_019590		24802598	+1	no_errors	NM_019590.1	genbank	human	validated	54_36p	missense	SNP	0.889	A
PLCE1	51196	genome.wustl.edu	37	10	95791191	95791191	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr10:95791191G>T	ENST00000371380.3	+	1	623	c.388G>T	c.(388-390)Gct>Tct	p.A130S	PLCE1_ENST00000260766.3_Missense_Mutation_p.A130S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	130					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAACTCTGTTGCTGAGGAAGA	0.408																																						dbGAP											0			10											71.0	66.0	67.0					10																	95791191		1876	4092	5968	95781181	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.388G>T	10.37:g.95791191G>T	ENSP00000360431:p.Ala130Ser	56	0.00	0		NA	NA	NA	95781181	143	39.00	94	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_RA,HMMSmart_SM00314,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand	p.A130S	ENST00000371380.3	37	c.388	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	0.983	-0.696485	0.03279	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.70164	-0.46;-0.46	4.74	-6.94	0.01633	.	1.817120	0.03056	N	0.155316	T	0.37128	0.0992	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.11690	-1.0577	10	0.23302	T	0.38	.	2.2095	0.03945	0.2129:0.1973:0.3941:0.1956	.	130;130	B7ZM61;Q9P212	.;PLCE1_HUMAN	S	130	ENSP00000260766:A130S;ENSP00000360431:A130S	ENSP00000260766:A130S	A	+	1	0	PLCE1	95781181	0.000000	0.05858	0.003000	0.11579	0.095000	0.18619	-1.184000	0.03076	-0.823000	0.04301	-0.253000	0.11424	GCT	-	NULL		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	G	NM_016341		95781181	+1	no_errors	NM_016341.3	genbank	human	validated	54_36p	missense	SNP	0.089	T
OR4B1	119765	genome.wustl.edu	37	11	48238468	48238468	+	Missense_Mutation	SNP	C	C	T	rs145509417	byFrequency	TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr11:48238468C>T	ENST00000309562.2	+	1	125	c.107C>T	c.(106-108)aCg>aTg	p.T36M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TACCTTGCCACGGTGGTGGGC	0.502																																						dbGAP											0			11						C	MET/THR	2,4400	4.2+/-10.8	0,2,2199	238.0	196.0	210.0		107	2.5	0.6	11	dbSNP_134	210	7,8589	5.7+/-21.5	0,7,4291	yes	missense	OR4B1	NM_001005470.1	81	0,9,6490	TT,TC,CC		0.0814,0.0454,0.0692	probably-damaging	36/310	48238468	9,12989	2201	4298	6499	48195044	SO:0001583	missense	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.107C>T	11.37:g.48238468C>T	ENSP00000311605:p.Thr36Met	90	0.00	0		NA	NA	NA	48195044	236	42.51	176	Q6IF75|Q96R64	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.T36M	ENST00000309562.2	37	c.107	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601094	0.28534	4.54E-4	8.14E-4	ENSG00000175619	ENST00000309562	T	0.00504	6.94	5.4	2.55	0.30701	.	0.000000	0.56097	D	0.000035	T	0.02418	0.0074	H	0.95402	3.665	0.32894	D	0.512243	D	0.89917	1.0	D	0.91635	0.999	T	0.03043	-1.1079	10	0.87932	D	0	.	8.545	0.33415	0.0:0.747:0.0:0.253	.	36	Q8NGF8	OR4B1_HUMAN	M	36	ENSP00000311605:T36M	ENSP00000311605:T36M	T	+	2	0	OR4B1	48195044	0.095000	0.21747	0.635000	0.29338	0.038000	0.13279	0.605000	0.24179	0.670000	0.31165	-0.528000	0.04320	ACG	-	superfamily_SSF81321		0.502	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	protein_coding	OTTHUMT00000390554.1	C	NM_001005470		48195044	+1	no_errors	NM_001005470.1	genbank	human	provisional	54_36p	missense	SNP	0.008	T
KDM2B	84678	genome.wustl.edu	37	12	121880386	121880386	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr12:121880386T>C	ENST00000377071.4	-	19	2930	c.2858A>G	c.(2857-2859)gAg>gGg	p.E953G	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E321G|KDM2B_ENST00000377069.4_Missense_Mutation_p.E884G	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	953					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTGGTTGagctccttgctcag	0.642																																						dbGAP											0			12											31.0	35.0	33.0					12																	121880386		2145	4271	6416	120364769	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2858A>G	12.37:g.121880386T>C	ENSP00000366271:p.Glu953Gly	15	0.00	0		29	35.56	16	120364769	30	35.42	17	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	HMMPfam_F-box,HMMSmart_SM00249,HMMPfam_zf-CXXC,HMMSmart_SM00558,HMMSmart_SM00367,superfamily_FYVE/PHD zinc finger,HMMPfam_JmjC,superfamily_Clavaminate synthase-like,superfamily_RNI-like	p.E953G	ENST00000377071.4	37	c.2858	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263414	0.80358	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.26223	2.06;2.32;1.75	5.69	5.69	0.88448	.	0.323136	0.26598	N	0.023489	T	0.38134	0.1029	L	0.40543	1.245	0.80722	D	1	B;D;P;B	0.58268	0.131;0.982;0.915;0.131	B;P;B;B	0.57152	0.039;0.814;0.164;0.039	T	0.12604	-1.0541	10	0.66056	D	0.02	-31.312	15.9481	0.79809	0.0:0.0:0.0:1.0	.	393;953;884;396	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	G	941;321;884;953;396;956	ENSP00000437821:E321G;ENSP00000366269:E884G;ENSP00000366271:E953G	ENSP00000261824:E956G	E	-	2	0	KDM2B	120364769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	2.153000	0.67306	0.533000	0.62120	GAG	-	NULL		0.642	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL10	protein_coding	OTTHUMT00000402132.2	T	NM_032590		120364769	-1	no_errors	NM_032590.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SMEK1	55671	genome.wustl.edu	37	14	91937204	91937204	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr14:91937204G>C	ENST00000554943.1	-	10	1752	c.1637C>G	c.(1636-1638)tCg>tGg	p.S546W	SMEK1_ENST00000555462.1_Missense_Mutation_p.S307W|SMEK1_ENST00000554684.1_Missense_Mutation_p.S533W|SMEK1_ENST00000428424.2_Missense_Mutation_p.S307W|SMEK1_ENST00000337238.4_Missense_Mutation_p.S533W			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	546					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGCATGCTTCGAGGCCATAAG	0.338																																						dbGAP											0			14											121.0	122.0	122.0					14																	91937204		2203	4300	6503	91006957	SO:0001583	missense	0			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1637C>G	14.37:g.91937204G>C	ENSP00000450883:p.Ser546Trp	42	0.00	0		80	44.90	66	91006957	139	39.30	90	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	HMMPfam_DUF625,superfamily_ARM-type_fold,superfamily_SSF50729	p.S533W	ENST00000554943.1	37	c.1598		14	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757332	0.89843	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.46063	1.49;1.49;0.88;1.49;0.88;1.49	5.8	5.8	0.92144	Armadillo-type fold (1);	0.116471	0.64402	D	0.000010	T	0.72486	0.3466	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.993;0.998;1.0	T	0.76656	-0.2879	10	0.72032	D	0.01	-7.7771	20.0586	0.97663	0.0:0.0:1.0:0.0	.	307;546;533	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	W	533;533;307;546;307;533	ENSP00000450864:S533W;ENSP00000337125:S533W;ENSP00000392704:S307W;ENSP00000450883:S546W;ENSP00000450891:S307W;ENSP00000452596:S533W	ENSP00000337125:S533W	S	-	2	0	SMEK1	91006957	1.000000	0.71417	0.970000	0.41538	0.985000	0.73830	9.869000	0.99810	2.741000	0.93983	0.650000	0.86243	TCG	-	superfamily_ARM-type_fold		0.338	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	protein_coding	OTTHUMT00000411665.1	G	NM_032560		91006957	-1	no_errors	NM_032560.4	genbank	human	validated	54_36p	missense	SNP	1.000	C
NPC1	4864	genome.wustl.edu	37	18	21115603	21115603	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr18:21115603C>T	ENST00000269228.5	-	22	3861	c.3307G>A	c.(3307-3309)Ggt>Agt	p.G1103S	NPC1_ENST00000412552.2_Missense_Mutation_p.G785S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1103					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGGACACACCGAGGTTGAAG	0.537																																						dbGAP											0			18											192.0	158.0	169.0					18																	21115603		2203	4300	6503	19369601	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3307G>A	18.37:g.21115603C>T	ENSP00000269228:p.Gly1103Ser	32	0.00	0		12	29.41	5	19369601	83	42.07	61	B4DET3|Q9P130	Missense_Mutation	SNP	HMMPfam_Patched,superfamily_SSF82866	p.G1103S	ENST00000269228.5	37	c.3307	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421876	0.25639	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.85339	-1.97;-1.97	5.88	-0.0223	0.13948	.	0.408258	0.32015	N	0.006720	T	0.72020	0.3409	L	0.33485	1.01	0.22500	N	0.999048	B;B	0.17852	0.006;0.024	B;B	0.24006	0.02;0.05	T	0.54721	-0.8251	10	0.23302	T	0.38	-10.9628	4.7124	0.12879	0.3512:0.2373:0.0:0.4114	.	1114;1103	Q59GR1;O15118	.;NPC1_HUMAN	S	1103;785	ENSP00000269228:G1103S;ENSP00000408606:G785S	ENSP00000269228:G1103S	G	-	1	0	NPC1	19369601	0.002000	0.14202	0.761000	0.31378	0.875000	0.50365	-0.558000	0.05978	-0.334000	0.08463	0.655000	0.94253	GGT	-	HMMPfam_Patched,superfamily_SSF82866		0.537	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	protein_coding	OTTHUMT00000254823.2	C	NM_000271		19369601	-1	no_errors	NM_000271.3	genbank	human	validated	54_36p	missense	SNP	0.899	T
HKR1	284459	genome.wustl.edu	37	19	37854501	37854501	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr19:37854501G>A	ENST00000324411.4	+	6	2073	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	HKR1_ENST00000589392.1_Missense_Mutation_p.A584T|HKR1_ENST00000541583.2_Missense_Mutation_p.A541T|HKR1_ENST00000591471.1_Missense_Mutation_p.A329T|HKR1_ENST00000544914.1_Missense_Mutation_p.A329T|HKR1_ENST00000392153.3_Missense_Mutation_p.A583T|HKR1_ENST00000591134.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	602					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAGCACACGCAGGGGGGAA	0.532																																						dbGAP											0			19											67.0	68.0	68.0					19																	37854501		2203	4300	6503	42546341	SO:0001583	missense	0			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1804G>A	19.37:g.37854501G>A	ENSP00000315505:p.Ala602Thr	14	0.00	0		17	55.00	22	42546341	63	42.48	48	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A602T	ENST00000324411.4	37	c.1804	CCDS12502.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|G	1.464|1.464	-0.561688|-0.561688	0.03939|0.03939	.|.	.|.	ENSG00000181666|ENSG00000181666	ENST00000542144|ENST00000544914;ENST00000414402;ENST00000392153;ENST00000324411;ENST00000541583	.|T;T;T;T	.|0.73469	.|2.73;-0.75;-0.75;-0.75	2.96|2.96	0.555|0.555	0.17247|0.17247	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.30355	.|0.0762	N|N	0.00560|0.00560	-1.38|-1.38	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.18013	.|0.005;0.007;0.025;0.001	.|B;B;B;B	.|0.09377	.|0.003;0.004;0.003;0.001	.|T	.|0.43572	.|-0.9383	.|9	.|0.02654	.|T	.|1	.|.	3.4776|3.4776	0.07590|0.07590	0.4232:0.0:0.1737:0.4031|0.4232:0.0:0.1737:0.4031	.|.	.|541;583;602;584	.|Q7Z6E1;P10072-2;P10072;B4DSY3	.|.;.;HKR1_HUMAN;.	.|T	-1|329;381;583;602;541	.|ENSP00000437774:A329T;ENSP00000375994:A583T;ENSP00000315505:A602T;ENSP00000438261:A541T	.|ENSP00000315505:A602T	.|A	+|+	.|1	.|0	HKR1|HKR1	42546341|42546341	0.002000|0.002000	0.14202|0.14202	0.742000|0.742000	0.31022|0.31022	0.751000|0.751000	0.42716|0.42716	0.007000|0.007000	0.13174|0.13174	0.362000|0.362000	0.24319|0.24319	-0.271000|-0.271000	0.10264|0.10264	.|GCA	-	superfamily_C2H2 and C2HC zinc fingers		0.532	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	protein_coding	OTTHUMT00000458375.1	G	NM_181786		42546341	+1	no_errors	NM_181786.2	genbank	human	provisional	54_36p	missense	SNP	0.993	A
FBXO11	80204	genome.wustl.edu	37	2	48036754	48036755	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	-	-	-	GA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr2:48036754_48036755insGA	ENST00000403359.3	-	20	2502_2503	c.2430_2431insTC	c.(2428-2433)gttaatfs	p.N811fs	FBXO11_ENST00000434523.2_Frame_Shift_Ins_p.N235fs|FBXO11_ENST00000405808.1_5'Flank|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.N727fs|MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.N727fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	811					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTGTCACATTAACACCAGATG	0.342			"""Mis, F, D"""		DLBCL																																	dbGAP		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2																																								47890259	SO:0001589	frameshift_variant	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2430_2431insTC	2.37:g.48036754_48036755insGA	ENSP00000384823:p.Asn811fs	42	0.00	0		39	26.42	14	47890258	156	36.84	91	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Ins	INS	HMMPfam_F-box,HMMSmart_FBOX,HMMPfam_zf-UBR,HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like,superfamily_SSF81383	p.N726fs	ENST00000403359.3	37	c.2179_2178	CCDS54357.1	2																																																																																			-	HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like,superfamily_SSF81383		0.342	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	protein_coding	OTTHUMT00000251181.3	-	NM_012167, NM_018693, NM_025133		47890259	-1	no_errors	NM_025133.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	GA
GIGYF2	26058	genome.wustl.edu	37	2	233681679	233681680	+	Frame_Shift_Ins	INS	-	-	CGGTAGGACGGGTC			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	-	-	-	CGGTAGGACGGGTC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr2:233681679_233681680insCGGTAGGACGGGTC	ENST00000409547.1	+	22	2618_2619	c.2307_2308insCGGTAGGACGGGTC	c.(2308-2310)cggfs	p.-770fs	GIGYF2_ENST00000373566.3_Frame_Shift_Ins_p.-792fs|GIGYF2_ENST00000409480.1_Frame_Shift_Ins_p.-792fs|GIGYF2_ENST00000373563.4_Frame_Shift_Ins_p.-770fs|GIGYF2_ENST00000409451.3_Frame_Shift_Ins_p.-791fs|GIGYF2_ENST00000409196.3_Frame_Shift_Ins_p.-764fs|GIGYF2_ENST00000452341.2_Frame_Shift_Ins_p.-601fs	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGGAAATTCTTCGGCGACAGCA	0.485																																						dbGAP											0			2																																								233389924	SO:0001589	frameshift_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	Exception_encountered	2.37:g.233681679_233681680insCGGTAGGACGGGTC	ENSP00000386537:p.Arg770fs	NA	NA	NA		NA	NA	NA	233389923	NA	NA	NA	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Frame_Shift_Ins	INS	HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF	p.R791fs	ENST00000409547.1	37	c.2370_2371	CCDS33401.1	2																																																																																			-	NULL		0.485	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	protein_coding	OTTHUMT00000330316.2	-	NM_001103146		233389924	+1	no_errors	NM_001103147.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.997:0.997	CGGTAGGACGGGTC
