#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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC6	368	genome.wustl.edu	37	16	16315544	16315544	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr16:16315544C>A	ENST00000205557.7	-	2	210	c.181G>T	c.(181-183)Ggc>Tgc	p.G61C	RP11-517A5.7_ENST00000574883.1_RNA|ABCC6_ENST00000575728.1_Missense_Mutation_p.G61C|ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	61			G -> D. {ECO:0000269|PubMed:11536079}.|Missing (in PXE; autosomal recessive). {ECO:0000269|PubMed:11702217, ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G61C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CGGAGGTAGCCCCGGCCATGG	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)	GRCh37	CD080783	ABCC6	D							31.0	31.0	31.0					16																	16315544		2196	4300	6496	-	-	-	SO:0001583	missense	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.181G>T	16.37:g.16315544C>A	ENSP00000205557:p.Gly61Cys		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.G61C	ENST00000205557.7	37	c.181	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901856	0.33535	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	T;T	0.62941	-0.01;-0.01	4.72	1.51	0.23008	.	0.405286	0.20636	N	0.088482	T	0.58177	0.2104	M	0.64567	1.98	0.29495	N	0.855316	P;P;P	0.51933	0.949;0.889;0.833	P;B;B	0.47673	0.554;0.399;0.386	T	0.56257	-0.8009	10	0.49607	T	0.09	.	4.7045	0.12842	0.1582:0.6144:0.1433:0.0841	.	61;61;61	F5GWQ0;Q8TCY8;O95255	.;.;MRP6_HUMAN	C	61	ENSP00000205557:G61C;ENSP00000405002:G61C	ENSP00000205557:G61C	G	-	1	0	ABCC6	16223045	0.993000	0.37304	0.595000	0.28798	0.662000	0.39071	2.992000	0.49417	0.130000	0.18549	0.485000	0.47835	GGC	ABCC6	-	tigrfam_Multidrug-R_assoc	ENSG00000091262		0.617	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	133	0.00	0	C			16315544	16315544	-1	no_errors	ENST00000205557	ensembl	human	known	69_37n	missense	95	24.81	32	SNP	0.509	A
ANK1	286	genome.wustl.edu	37	8	41591581	41591581	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr8:41591581A>T	ENST00000347528.4	-	3	219	c.136T>A	c.(136-138)Ttg>Atg	p.L46M	ANK1_ENST00000396942.1_Missense_Mutation_p.L46M|ANK1_ENST00000396945.1_Missense_Mutation_p.L46M|ANK1_ENST00000352337.4_Missense_Mutation_p.L46M|ANK1_ENST00000289734.7_Missense_Mutation_p.L46M|ANK1_ENST00000265709.8_Missense_Mutation_p.L79M|ANK1_ENST00000379758.2_Missense_Mutation_p.L46M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	46	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L79M(1)|p.L46M(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AAGCCATTCAACCCATTCTGT	0.512																																						dbGAP											2	Substitution - Missense(2)	breast(2)											146.0	132.0	137.0					8																	41591581		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.136T>A	8.37:g.41591581A>T	ENSP00000339620:p.Leu46Met		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.L46M	ENST00000347528.4	37	c.136	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197308	0.79015	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66995	-0.21;-0.23;-0.21;-0.17;-0.21;-0.2;-0.24	5.27	-5.74	0.02391	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000003	T	0.74596	0.3737	M	0.65320	2	0.58432	D	0.999995	D;D;P;D;D	0.89917	1.0;0.999;0.946;1.0;1.0	D;D;P;D;D	0.97110	1.0;1.0;0.853;1.0;1.0	T	0.76898	-0.2789	10	0.66056	D	0.02	.	15.2428	0.73482	0.6716:0.0:0.3284:0.0	.	79;46;46;46;46	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	M	46;46;46;46;46;46;79;46	ENSP00000339620:L46M;ENSP00000289734:L46M;ENSP00000369082:L46M;ENSP00000380149:L46M;ENSP00000380147:L46M;ENSP00000309131:L46M;ENSP00000265709:L79M	ENSP00000265709:L79M	L	-	1	2	ANK1	41710738	0.987000	0.35691	0.932000	0.37286	0.983000	0.72400	0.334000	0.19787	-1.036000	0.03287	0.402000	0.26972	TTG	ANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.512	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	126	0.00	0	A	NM_020475		41591581	41591581	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	103	11.97	14	SNP	0.979	T
ATP2A1	487	genome.wustl.edu	37	16	28909329	28909329	+	Silent	SNP	C	C	A			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr16:28909329C>A	ENST00000357084.3	+	13	1695	c.1428C>A	c.(1426-1428)cgC>cgA	p.R476R	ATP2A1_ENST00000536376.1_Silent_p.R351R|ATP2A1_ENST00000395503.4_Silent_p.R476R	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	476					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.R476R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGGTGATCCGCCAGCTAATGA	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											141.0	147.0	145.0					16																	28909329		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1428C>A	16.37:g.28909329C>A			A8K5J9|B3KY17|O14984	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R476	ENST00000357084.3	37	c.1428	CCDS10643.1	16																																																																																			ATP2A1	-	superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000196296		0.532	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	55	0.00	0	C	NM_004320		28909329	28909329	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	silent	45	32.84	22	SNP	1.000	A
C6orf141	135398	genome.wustl.edu	37	6	49519103	49519103	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr6:49519103G>C	ENST00000529246.2	+	1	991	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	C6orf141_ENST00000424426.1_Intron	NM_001145652.1	NP_001139124	Q5SZD1	CF141_HUMAN	chromosome 6 open reading frame 141	200								p.E200Q(1)		breast(1)|prostate(1)	2						CAGCAGTAGAGAGGGACAGCC	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											38.0	37.0	37.0					6																	49519103		692	1591	2283	-	-	-	SO:0001583	missense	0			AK054918	CCDS55018.1	6p12.3	2012-02-06			ENSG00000197261	ENSG00000197261			21351	protein-coding gene	gene with protein product							Standard	NM_001145652		Approved	MGC46457	uc011dwo.2	Q5SZD1	OTTHUMG00000014820	ENST00000529246.2:c.598G>C	6.37:g.49519103G>C	ENSP00000434602:p.Glu200Gln		A8K1H4|Q8N400|Q96NQ1	Missense_Mutation	SNP	NULL	p.E200Q	ENST00000529246.2	37	c.598	CCDS55018.1	6	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352996	0.41700	.	.	ENSG00000197261	ENST00000529246	T	0.48201	0.82	5.52	3.7	0.42460	.	0.211989	0.22265	U	0.062348	T	0.27419	0.0673	L	0.32530	0.975	0.09310	N	1	P	0.50528	0.936	P	0.50405	0.64	T	0.06862	-1.0803	10	0.87932	D	0	.	7.9995	0.30288	0.086:0.1596:0.7544:0.0	.	200	Q5SZD1	CF141_HUMAN	Q	200	ENSP00000434602:E200Q	ENSP00000431184:E200Q	E	+	1	0	C6orf141	49627062	0.001000	0.12720	0.008000	0.14137	0.007000	0.05969	0.843000	0.27640	0.771000	0.33359	0.655000	0.94253	GAG	C6orf141	-	NULL	ENSG00000197261		0.642	C6orf141-005	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf141	HGNC	protein_coding	OTTHUMT00000390228.1	81	0.00	0	G	NM_153344		49519103	49519103	+1	no_errors	ENST00000371194	ensembl	human	known	69_37n	missense	35	31.37	16	SNP	0.005	C
C8orf4	56892	genome.wustl.edu	37	8	40011156	40011156	+	Silent	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr8:40011156C>T	ENST00000315792.3	+	1	168	c.105C>T	c.(103-105)gcC>gcT	p.A35A		NM_020130.4	NP_064515	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	35					apoptotic process (GO:0006915)			p.A35A(1)		breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		GTAAGAAAGCCGTGGGCAACA	0.493																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											120.0	102.0	108.0					8																	40011156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF268037	CCDS6115.1	8p11.2	2014-07-11			ENSG00000176907	ENSG00000176907			1357	protein-coding gene	gene with protein product	"""human thyroid cancer 1"""	607702				11056052, 24937306	Standard	NM_020130		Approved	TC-1, hTC-1	uc003xnq.2	Q9NR00	OTTHUMG00000164045	ENST00000315792.3:c.105C>T	8.37:g.40011156C>T				Silent	SNP	NULL	p.A35	ENST00000315792.3	37	c.105	CCDS6115.1	8																																																																																			C8orf4	-	NULL	ENSG00000176907		0.493	C8orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf4	HGNC	protein_coding	OTTHUMT00000376943.1	144	0.00	0	C	NM_020130		40011156	40011156	+1	no_errors	ENST00000315792	ensembl	human	known	69_37n	silent	135	31.12	61	SNP	0.001	T
CNTN4	152330	genome.wustl.edu	37	3	3085276	3085276	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr3:3085276C>T	ENST00000397461.1	+	22	3083	c.2699C>T	c.(2698-2700)cCa>cTa	p.P900L	CNTN4_ENST00000448906.2_Splice_Site_p.P572L|CNTN4_ENST00000427331.1_Splice_Site_p.P900L|CNTN4_ENST00000418658.1_Splice_Site_p.P900L|CNTN4_ENST00000397459.2_Splice_Site_p.P572L|CNTN4_ENST00000358480.3_Splice_Site_p.P681L|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	900	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.P572L(1)|p.P900L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTTTTATAGCACCAAGTCAA	0.378																																						dbGAP											2	Substitution - Missense(2)	breast(2)											50.0	51.0	50.0					3																	3085276		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2699-1C>T	3.37:g.3085276C>T			B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P900L	ENST00000397461.1	37	c.2699	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704969	0.88924	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.37	5.37	0.77165	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.060743	0.64402	D	0.000002	T	0.76557	0.4004	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.982;0.991	T	0.78969	-0.1994	9	.	.	.	.	19.1705	0.93575	0.0:1.0:0.0:0.0	.	899;900	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	L	900;900;900;681;572;572	ENSP00000396010:P900L;ENSP00000380602:P900L;ENSP00000413642:P900L;ENSP00000351267:P681L;ENSP00000380600:P572L;ENSP00000392077:P572L	.	P	+	2	0	CNTN4	3060276	1.000000	0.71417	0.981000	0.43875	0.999000	0.98932	7.642000	0.83385	2.538000	0.85594	0.650000	0.86243	CCA	CNTN4	-	superfamily_Fibronectin_type3	ENSG00000144619		0.378	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	93	0.00	0	C		Missense_Mutation	3085276	3085276	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	missense	113	21.38	31	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124387592	124387592	+	Silent	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr12:124387592C>T	ENST00000409039.3	+	56	9418	c.9393C>T	c.(9391-9393)gtC>gtT	p.V3131V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3131	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1723V(1)|p.V3131V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGCAGAGGTCATGCCCATCC	0.557																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											52.0	64.0	60.0					12																	124387592		2109	4225	6334	-	-	-	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9393C>T	12.37:g.124387592C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.V3131	ENST00000409039.3	37	c.9393	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.557	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	85	0.00	0	C			124387592	124387592	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	silent	118	12.59	17	SNP	1.000	T
FJX1	24147	genome.wustl.edu	37	11	35641314	35641315	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr11:35641314_35641315insT	ENST00000317811.4	+	1	1580_1581	c.1130_1131insT	c.(1129-1134)gagctgfs	p.EL377fs	FJX1_ENST00000532914.1_3'UTR	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	377					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CGCGTCCTGGAGCTGCACCGCG	0.713																																					Melanoma(161;10 2587 27165 47356)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		Exception_encountered	11.37:g.35641314_35641315insT	ENSP00000400223:p.Glu377fs		B2RCA9|Q9UGK6	Frame_Shift_Ins	INS	pfam_DUF1193	p.E377fs	ENST00000317811.4	37	c.1130_1131	CCDS44570.1	11																																																																																			FJX1	-	pfam_DUF1193	ENSG00000179431		0.713	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FJX1	HGNC	protein_coding	OTTHUMT00000389078.1	17	0.00	0	-	NM_014344		35641314	35641315	+1	no_errors	ENST00000317811	ensembl	human	known	69_37n	frame_shift_ins	5	50.00	5	INS	1.000:1.000	T
GHRL	51738	genome.wustl.edu	37	3	10331484	10331484	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr3:10331484C>T	ENST00000335542.8	-	4	1057	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	GHRL_ENST00000457360.1_Missense_Mutation_p.G63S|GHRL_ENST00000422159.1_Missense_Mutation_p.G63S|GHRLOS_ENST00000439539.3_RNA|GHRLOS_ENST00000605105.1_RNA|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000429122.1_Missense_Mutation_p.G63S|GHRL_ENST00000430179.1_Missense_Mutation_p.G62S|GHRL_ENST00000449554.2_Missense_Mutation_p.G62S|GHRL_ENST00000476283.1_5'UTR|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000449238.2_Missense_Mutation_p.G50S|GHRL_ENST00000437422.2_Missense_Mutation_p.G51S|GHRL_ENST00000287656.7_Missense_Mutation_p.G62S|GHRL_ENST00000450603.1_Missense_Mutation_p.G63S|GHRLOS_ENST00000605014.1_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	63					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)	p.G63S(1)		breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						TCTGCTTGACCTCCATCTTCC	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											156.0	163.0	161.0					3																	10331484		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.187G>A	3.37:g.10331484C>T	ENSP00000335074:p.Gly63Ser		A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Missense_Mutation	SNP	pfam_Motilin_assoc,pfam_Motilin_ghrelin,prints_Preproghrelin	p.G63S	ENST00000335542.8	37	c.187	CCDS33700.1	3	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522039	0.13005	.	.	ENSG00000157017	ENST00000335542;ENST00000430179;ENST00000450603;ENST00000449554;ENST00000422159;ENST00000449238;ENST00000437422;ENST00000287656;ENST00000457360;ENST00000429122	T;T;T;T;T;T;T;T;T;T	0.52057	1.6;1.6;1.6;1.6;0.68;1.6;1.6;1.6;1.6;1.6	3.87	-2.62	0.06152	Motilin/ghrelin-associated peptide (1);	1.431080	0.04330	N	0.352230	T	0.28400	0.0702	N	0.10916	0.065	0.09310	N	1	B;B;B;B;B	0.21606	0.035;0.041;0.058;0.027;0.0	B;B;B;B;B	0.24848	0.056;0.016;0.029;0.009;0.001	T	0.24297	-1.0164	10	0.12103	T	0.63	4.2187	11.6613	0.51347	0.0:0.7791:0.0:0.2209	.	50;51;63;62;63	Q9UBU3-4;Q9UBU3-3;Q9UBU3;Q9UBU3-2;Q86YP8	.;.;GHRL_HUMAN;.;.	S	63;62;63;62;63;50;51;62;63;63	ENSP00000335074:G63S;ENSP00000399922:G62S;ENSP00000389192:G63S;ENSP00000415521:G62S;ENSP00000405464:G63S;ENSP00000388145:G50S;ENSP00000416768:G51S;ENSP00000287656:G62S;ENSP00000391406:G63S;ENSP00000414819:G63S	ENSP00000287656:G62S	G	-	1	0	GHRL	10306484	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.184000	0.09698	-0.344000	0.08338	-0.471000	0.05019	GGT	GHRL	-	pfam_Motilin_assoc	ENSG00000157017		0.607	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GHRL	HGNC	protein_coding	OTTHUMT00000339625.1	173	0.00	0	C	NM_016362		10331484	10331484	-1	no_errors	ENST00000335542	ensembl	human	known	69_37n	missense	65	40.37	44	SNP	0.000	T
IGLV2-23	28813	genome.wustl.edu	37	22	23040687	23040687	+	RNA	SNP	C	C	T	rs534166412	byFrequency	TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr22:23040687C>T	ENST00000390306.2	+	0	297				D86994.1_ENST00000385095.1_RNA					immunoglobulin lambda variable 2-23																		CTGGAACCAGCAGTGATGTTG	0.582													.|||	4	0.000798722	0.0008	0.0	5008	,	,		15887	0.0		0.002	False		,,,				2504	0.001					dbGAP											0																																										-	-	-			0			X14616		22q11.2	2012-02-08			ENSG00000211660	ENSG00000211660		"""Immunoglobulins / IGL locus"""	5890	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151234		22.37:g.23040687C>T				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S45	ENST00000390306.2	37	c.135		22																																																																																			IGLV2-23	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211660		0.582	IGLV2-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV2-23	HGNC	IG_V_gene	OTTHUMT00000321839.2	147	0.00	0	C	NG_000002		23040687	23040687	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390306	ensembl	human	known	69_37n	silent	96	19.33	23	SNP	0.013	T
IL1RL2	8808	genome.wustl.edu	37	2	102804317	102804317	+	5'UTR	SNP	C	C	G			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr2:102804317C>G	ENST00000264257.2	+	0	116				IL1RL2_ENST00000539491.1_5'UTR|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Splice_Site_p.P24A	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2						cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.P24A(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCTTGCAGCCCGGTTTGGGG	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											164.0	139.0	148.0					2																	102804317		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.-11C>G	2.37:g.102804317C>G			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.P24A	ENST00000264257.2	37	c.70	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	C	7.417	0.635866	0.14386	.	.	ENSG00000115598	ENST00000441515	T	0.03413	3.94	4.37	3.49	0.39957	.	.	.	.	.	T	0.03053	0.0090	.	.	.	0.38563	D	0.949768	P	0.34522	0.455	B	0.28553	0.091	T	0.54323	-0.8311	8	0.40728	T	0.16	.	8.3958	0.32557	0.0:0.8919:0.0:0.1081	.	24	A4FU63	.	A	24	ENSP00000413348:P24A	ENSP00000413348:P24A	P	+	1	0	IL1RL2	102170749	0.000000	0.05858	0.101000	0.21167	0.035000	0.12851	-0.031000	0.12287	1.193000	0.43086	0.561000	0.74099	CCG	IL1RL2	-	NULL	ENSG00000115598		0.652	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	174	0.00	0	C	NM_003854		102804317	102804317	+1	no_errors	ENST00000441515	ensembl	human	known	69_37n	missense	75	12.64	11	SNP	0.057	G
IMPG1	3617	genome.wustl.edu	37	6	76751758	76751758	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr6:76751758C>T	ENST00000369950.3	-	2	342	c.153G>A	c.(151-153)atG>atA	p.M51I	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.M51I(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACATTTTGTACATTTTTTCAG	0.353																																					Pancreas(37;839 1141 2599 26037)	dbGAP											2	Substitution - Missense(2)	breast(1)|endometrium(1)											192.0	181.0	185.0					6																	76751758		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.153G>A	6.37:g.76751758C>T	ENSP00000358966:p.Met51Ile			Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.M51I	ENST00000369950.3	37	c.153	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	0.403	-0.917105	0.02415	.	.	ENSG00000112706	ENST00000369950	T	0.18810	2.19	6.07	0.109	0.14578	.	0.784500	0.12173	N	0.492868	T	0.03608	0.0103	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.44452	-0.9327	9	.	.	.	.	2.213	0.03953	0.1172:0.4589:0.1134:0.3105	.	51	Q17R60	IMPG1_HUMAN	I	51	ENSP00000358966:M51I	.	M	-	3	0	IMPG1	76808478	0.004000	0.15560	0.000000	0.03702	0.120000	0.20174	0.079000	0.14782	-0.276000	0.09206	0.655000	0.94253	ATG	IMPG1	-	NULL	ENSG00000112706		0.353	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	306	0.33	1	C	NM_001563		76751758	76751758	-1	no_errors	ENST00000369950	ensembl	human	known	69_37n	missense	310	11.86	42	SNP	0.001	T
LRIT1	26103	genome.wustl.edu	37	10	85997061	85997062	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr10:85997061_85997062delCA	ENST00000372105.3	-	2	524_525	c.503_504delTG	c.(502-504)atgfs	p.M168fs		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	168						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCGGGAGCCTCATCAGCTGGTT	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.503_504delTG	10.37:g.85997061_85997062delCA	ENSP00000361177:p.Met168fs		Q0QD41|Q9Y4N7	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.M168fs	ENST00000372105.3	37	c.504_503	CCDS7373.1	10																																																																																			LRIT1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000148602		0.663	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	23	0.00	0	CA	NM_015613		85997061	85997062	-1	no_errors	ENST00000372105	ensembl	human	known	69_37n	frame_shift_del	18	50.00	18	DEL	0.995:0.993	-
MEGF8	1954	genome.wustl.edu	37	19	42840407	42840407	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr19:42840407C>T	ENST00000251268.6	+	6	1153	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	MEGF8_ENST00000334370.4_Missense_Mutation_p.R385W	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	385					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R385W(2)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCAGGCGGACGGCCCCCTGC	0.677																																						dbGAP											2	Substitution - Missense(2)	breast(2)											23.0	29.0	27.0					19																	42840407		2007	4148	6155	-	-	-	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1153C>T	19.37:g.42840407C>T	ENSP00000251268:p.Arg385Trp		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R385W	ENST00000251268.6	37	c.1153		19	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405091	0.42613	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66638	-0.22;-0.22	4.53	0.963	0.19649	.	.	.	.	.	T	0.71039	0.3293	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.68176	-0.5478	9	0.66056	D	0.02	.	7.5458	0.27766	0.48:0.3637:0.1563:0.0	.	385	Q7Z7M0-2	.	W	385	ENSP00000334219:R385W;ENSP00000251268:R385W	ENSP00000251268:R385W	R	+	1	2	MEGF8	47532247	1.000000	0.71417	0.998000	0.56505	0.258000	0.26162	1.936000	0.40183	0.118000	0.18165	-0.315000	0.08773	CGG	MEGF8	-	NULL	ENSG00000105429		0.677	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	38	0.00	0	C	NM_001410		42840407	42840407	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.999	T
PVT1	5820	genome.wustl.edu	37	8	128808257	128808257	+	RNA	SNP	G	G	C			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr8:128808257G>C	ENST00000408388.1	+	0	50					NR_031609.1				Pvt1 oncogene (non-protein coding)																		TCTTGGAGGTGAGGACGTGCC	0.507																																						dbGAP											0													100.0	100.0	100.0					8																	128808257		692	1591	2283	-	-	-			0			M31519		8q24	2014-07-18	2008-09-02		ENSG00000249859	ENSG00000249859		"""-"""	9709	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 79"", ""long intergenic non-protein coding RNA 79"""	165140	"""pvt-1 (murine) oncogene homolog, MYC activator"", ""Pvt1 oncogene homolog (mouse)"""			17503467, 23801869	Standard	NR_003367		Approved	NCRNA00079, LINC00079	uc003ysl.3		OTTHUMG00000164871		8.37:g.128808257G>C				RNA	SNP	-	NULL	ENST00000408388.1	37	NULL		8																																																																																			MIR1204	-	-	ENSG00000221315		0.507	PVT1-201	KNOWN	basic	miRNA	MIR1204	HGNC	processed_transcript		100	0.00	0	G	NR_003367		128808257	128808257	+1	no_errors	ENST00000408388	ensembl	human	known	69_37n	rna	118	19.05	28	SNP	1.000	C
MLLT4	4301	genome.wustl.edu	37	6	168312082	168312082	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr6:168312082C>G	ENST00000447894.2	+	15	1950	c.1950C>G	c.(1948-1950)taC>taG	p.Y650*	MLLT4_ENST00000366806.2_Nonsense_Mutation_p.Y650*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Y634*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Y650*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Y649*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Y650*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Y650*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	650					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)	p.Y650*(1)|p.Y634*(1)		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)		CCAACCAGTACAGACCTGACA	0.443			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	2	Substitution - Nonsense(2)	breast(2)											119.0	107.0	111.0					6																	168312082		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.1950C>G	6.37:g.168312082C>G	ENSP00000404595:p.Tyr650*		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Y650*	ENST00000447894.2	37	c.1950		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.753117|7.753117	0.98471|0.98471	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000423229|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|.	.|.	.|.	5.65|5.65	4.78|4.78	0.61160|0.61160	.|.	.|0.203893	.|0.44097	.|D	.|0.000484	T|.	0.11196|.	0.0273|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07693|.	-1.0759|.	3|.	.|0.02654	.|T	.|1	-4.4488|-4.4488	11.6486|11.6486	0.51275|0.51275	0.0:0.8579:0.0:0.1421|0.0:0.8579:0.0:0.1421	.|.	.|.	.|.	.|.	E|X	349|650;650;650;650;634;650;649;650	.|.	.|ENSP00000345834:Y650X	Q|Y	+|+	1|3	0|2	MLLT4|MLLT4	168054931|168054931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	3.643000|3.643000	0.54374|0.54374	1.387000|1.387000	0.46486|0.46486	0.467000|0.467000	0.42956|0.42956	CAG|TAC	MLLT4	-	NULL	ENSG00000130396		0.443	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	160	0.00	0	C	NM_005936		168312082	168312082	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	nonsense	115	26.28	41	SNP	1.000	G
MOSPD2	158747	genome.wustl.edu	37	X	14910870	14910870	+	Silent	SNP	T	T	A			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chrX:14910870T>A	ENST00000380492.3	+	3	193	c.105T>A	c.(103-105)cgT>cgA	p.R35R	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Silent_p.R35R	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	35						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.R35R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					ATGATGCACGTGATGTTGAAA	0.348																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											107.0	100.0	102.0					X																	14910870		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.105T>A	X.37:g.14910870T>A			Q8N3H2|Q8NA83	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_Major_sperm,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_Major_sperm	p.R35	ENST00000380492.3	37	c.105	CCDS14162.1	X																																																																																			MOSPD2	-	superfamily_CRAL/TRIO_N_dom	ENSG00000130150		0.348	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	213	0.00	0	T	NM_152581		14910870	14910870	+1	no_errors	ENST00000380492	ensembl	human	known	69_37n	silent	204	21.46	56	SNP	1.000	A
MYO9B	4650	genome.wustl.edu	37	19	17313112	17313112	+	Splice_Site	SNP	G	G	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr19:17313112G>T	ENST00000594824.1	+	28	4983	c.4836G>T	c.(4834-4836)aaG>aaT	p.K1612N	MYO9B_ENST00000595618.1_Splice_Site_p.K1612N|MYO9B_ENST00000397274.2_Splice_Site_p.K1612N			Q13459	MYO9B_HUMAN	myosin IXB	1612	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.K1612N(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCCAGTGAAGGTGGGCAGCC	0.602																																						dbGAP											2	Substitution - Missense(2)	breast(2)											20.0	23.0	22.0					19																	17313112		2139	4206	6345	-	-	-	SO:0001630	splice_region_variant	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4836+1G>T	19.37:g.17313112G>T			O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.K1612N	ENST00000594824.1	37	c.4836		19	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296746	0.60086	.	.	ENSG00000099331	ENST00000397274	T	0.13538	2.58	4.51	4.51	0.55191	.	0.000000	0.53938	D	0.000043	T	0.37210	0.0995	M	0.77313	2.365	0.58432	D	0.999995	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.994;0.997;0.994;0.994	T	0.20571	-1.0271	10	0.62326	D	0.03	.	12.7183	0.57127	0.0:0.0:1.0:0.0	.	1612;1612;1612;1618	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	N	1612	ENSP00000380444:K1612N	ENSP00000380444:K1612N	K	+	3	2	MYO9B	17174112	1.000000	0.71417	0.993000	0.49108	0.326000	0.28443	6.466000	0.73543	2.038000	0.60285	0.313000	0.20887	AAG	MYO9B	-	NULL	ENSG00000099331		0.602	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	36	0.00	0	G		Missense_Mutation	17313112	17313112	+1	no_errors	ENST00000397274	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	1.000	T
NTRK1	4914	genome.wustl.edu	37	1	156843599	156843599	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr1:156843599G>A	ENST00000524377.1	+	8	1066	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	NTRK1_ENST00000392302.2_Missense_Mutation_p.R312Q|NTRK1_ENST00000368196.3_Missense_Mutation_p.R342Q|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342Q	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	342	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R312Q(3)|p.R342Q(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GAGACCGTGCGGCACGGGTGT	0.632			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												dbGAP		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	6	Substitution - Missense(6)	lung(2)|breast(2)|endometrium(2)											59.0	41.0	47.0					1																	156843599		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1025G>A	1.37:g.156843599G>A	ENSP00000431418:p.Arg342Gln		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R342Q	ENST00000524377.1	37	c.1025	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501462	0.26861	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.17	5.26	0.73747	Immunoglobulin-like fold (1);	0.119055	0.37955	N	0.001861	T	0.08268	0.0206	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.27882	0.037;0.192;0.116;0.189	B;B;B;B	0.14578	0.004;0.004;0.003;0.011	T	0.20438	-1.0275	10	0.11485	T	0.65	.	7.9711	0.30127	0.0753:0.0:0.6822:0.2425	.	342;342;342;312	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	Q	312;342;342;342	ENSP00000376120:R312Q;ENSP00000357179:R342Q;ENSP00000431418:R342Q;ENSP00000351486:R342Q	ENSP00000351486:R342Q	R	+	2	0	NTRK1	155110223	0.015000	0.18098	0.955000	0.39395	0.385000	0.30292	2.169000	0.42434	1.627000	0.50400	0.655000	0.94253	CGG	NTRK1	-	NULL	ENSG00000198400		0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	48	0.00	0	G	NM_002529		156843599	156843599	+1	no_errors	ENST00000524377	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	0.019	A
NUP214	8021	genome.wustl.edu	37	9	134003062	134003062	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr9:134003062A>G	ENST00000359428.5	+	2	341	c.197A>G	c.(196-198)aAt>aGt	p.N66S	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.N66S|NUP214_ENST00000451030.1_Missense_Mutation_p.N66S			P35658	NU214_HUMAN	nucleoporin 214kDa	66	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.N66S(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCTACTAAAAATCTTCTTATT	0.443			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	1	Substitution - Missense(1)	breast(1)											71.0	81.0	77.0					9																	134003062		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.197A>G	9.37:g.134003062A>G	ENSP00000352400:p.Asn66Ser		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.N66S	ENST00000359428.5	37	c.197	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881658	0.51908	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.93859	-3.3;-3.3;-3.3	5.74	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);	0.325966	0.21954	N	0.066696	D	0.84419	0.5468	N	0.16478	0.41	0.28826	N	0.897418	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.68861	-0.5297	10	0.07482	T	0.82	-19.3585	10.1656	0.42877	0.9215:0.0:0.0785:0.0	.	66;66	P35658-4;P35658	.;NU214_HUMAN	S	66	ENSP00000352400:N66S;ENSP00000396576:N66S;ENSP00000405014:N66S	ENSP00000352400:N66S	N	+	2	0	NUP214	132992883	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.685000	0.68204	1.027000	0.39758	0.533000	0.62120	AAT	NUP214	-	NULL	ENSG00000126883		0.443	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	73	0.00	0	A	NM_005085		134003062	134003062	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	1.000	G
PDE11A	50940	genome.wustl.edu	37	2	178565928	178565928	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr2:178565928G>A	ENST00000286063.6	-	14	2482	c.2165C>T	c.(2164-2166)gCc>gTc	p.A722V	AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.A364V|PDE11A_ENST00000449286.2_Missense_Mutation_p.A364V|AC012499.1_ENST00000450227.1_RNA|PDE11A_ENST00000358450.4_Missense_Mutation_p.A472V|PDE11A_ENST00000389683.3_Missense_Mutation_p.A278V	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	722	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.A472V(1)|p.A722V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTGGGCCAGGGCAGAGCCACT	0.522									Primary Pigmented Nodular Adrenocortical Disease, Familial																													dbGAP											2	Substitution - Missense(2)	breast(2)											114.0	94.0	101.0					2																	178565928		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2165C>T	2.37:g.178565928G>A	ENSP00000286063:p.Ala722Val		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.A722V	ENST00000286063.6	37	c.2165	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.957713|3.957713	0.73902|0.73902	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000433879	T;T;T;T;T|.	0.76709|.	-1.04;-1.04;-1.04;-1.04;-1.04|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67562|0.67562	0.2906|0.2906	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	P;D|.	0.54964|.	0.86;0.969|.	B;P|.	0.56127|.	0.243;0.792|.	T|T	0.61676|0.61676	-0.7014|-0.7014	10|5	0.87932|.	D|.	0|.	.|.	19.8452|19.8452	0.96705|0.96705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	472;722|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	V|S	722;472;364;278;364|330	ENSP00000286063:A722V;ENSP00000351232:A472V;ENSP00000386539:A364V;ENSP00000374333:A278V;ENSP00000390599:A364V|.	ENSP00000286063:A722V|.	A|P	-|-	2|1	0|0	PDE11A|PDE11A	178274174|178274174	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.729000|0.729000	0.41735|0.41735	9.410000|9.410000	0.97335|0.97335	2.679000|2.679000	0.91253|0.91253	0.555000|0.555000	0.69702|0.69702	GCC|CCC	PDE11A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000128655		0.522	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	133	0.00	0	G			178565928	178565928	-1	no_errors	ENST00000286063	ensembl	human	known	69_37n	missense	79	16.84	16	SNP	1.000	A
PHKA2	5256	genome.wustl.edu	37	X	18943843	18943843	+	Silent	SNP	G	G	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chrX:18943843G>T	ENST00000379942.4	-	15	2177	c.1512C>A	c.(1510-1512)gtC>gtA	p.V504V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	504					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.V504V(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGTTCCAAGGACACCAATAT	0.388																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											187.0	169.0	175.0					X																	18943843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1512C>A	X.37:g.18943843G>T			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.V504	ENST00000379942.4	37	c.1512	CCDS14190.1	X																																																																																			PHKA2	-	pfam_Glyco_hydro_15	ENSG00000044446		0.388	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	194	0.00	0	G	NM_000292		18943843	18943843	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	silent	161	19.10	38	SNP	0.914	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	95	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	95	25.78	33	SNP	1.000	G
PRDM8	56978	genome.wustl.edu	37	4	81124648	81124648	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr4:81124648C>G	ENST00000504452.1	+	8	2871	c.2032C>G	c.(2032-2034)Cgc>Ggc	p.R678G	PRDM8_ENST00000339711.4_Missense_Mutation_p.R678G|PRDM8_ENST00000415738.2_Missense_Mutation_p.R678G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	678					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R678G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CTTCAGGGAGCGCCACCACCT	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											25.0	29.0	28.0					4																	81124648		2178	4286	6464	-	-	-	SO:0001583	missense	0			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.2032C>G	4.37:g.81124648C>G	ENSP00000423985:p.Arg678Gly		A8K7X2|Q6IQ36	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R678G	ENST00000504452.1	37	c.2032	CCDS43243.1	4	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188392	0.57909	.	.	ENSG00000152784	ENST00000504452;ENST00000339711;ENST00000415738	T;T;T	0.53423	0.62;0.62;0.62	4.82	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065931	0.64402	D	0.000012	T	0.63200	0.2491	L	0.59912	1.85	0.58432	D	0.999993	D	0.76494	0.999	D	0.73380	0.98	T	0.66830	-0.5824	10	0.87932	D	0	.	13.2731	0.60172	0.2868:0.7132:0.0:0.0	.	678	Q9NQV8	PRDM8_HUMAN	G	678	ENSP00000423985:R678G;ENSP00000339764:R678G;ENSP00000406998:R678G	ENSP00000339764:R678G	R	+	1	0	PRDM8	81343672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.586000	0.60984	1.230000	0.43646	0.591000	0.81541	CGC	PRDM8	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152784		0.572	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	63	0.00	0	C			81124648	81124648	+1	no_errors	ENST00000339711	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	1.000	G
PRSS57	400668	genome.wustl.edu	37	19	687116	687117	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr19:687116_687117insG	ENST00000329267.7	-	4	482_483	c.453_454insC	c.(451-456)cccacafs	p.T152fs		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	152	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						GTCCCCGCTGTGGGGGGCCTGG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.454dupC	19.37:g.687122_687122dupG	ENSP00000327386:p.Thr152fs		B2RNW8	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.T151fs	ENST00000329267.7	37	c.454_453	CCDS12041.1	19																																																																																			PRSS57	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000185198		0.683	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS57	HGNC	protein_coding	OTTHUMT00000452480.2	30	0.00	0	-	NM_214710		687116	687117	-1	no_errors	ENST00000329267	ensembl	human	known	69_37n	frame_shift_ins	23	14.81	4	INS	0.000:0.000	G
RAVER1	125950	genome.wustl.edu	37	19	10434107	10434107	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr19:10434107C>T	ENST00000293677.6	-	4	1024	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	298	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A298T(1)|p.A315T(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCCCAGGGGCGCAGAAGGAG	0.726																																						dbGAP											2	Substitution - Missense(2)	breast(2)											12.0	16.0	15.0					19																	10434107		2005	4166	6171	-	-	-	SO:0001583	missense	0				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.943G>A	19.37:g.10434107C>T	ENSP00000293677:p.Ala315Thr		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A315T	ENST00000293677.6	37	c.943	CCDS45960.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052666	0.75960	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.05717	3.4	4.65	4.65	0.58169	.	0.067850	0.56097	D	0.000022	T	0.05502	0.0145	L	0.38175	1.15	0.50171	D	0.99985	P	0.45428	0.858	B	0.31290	0.127	T	0.40040	-0.9584	10	0.52906	T	0.07	-15.7749	14.9961	0.71433	0.0:1.0:0.0:0.0	.	315	E9PAU2	.	T	315;298	ENSP00000293677:A315T	ENSP00000293677:A315T	A	-	1	0	RAVER1	10295107	1.000000	0.71417	0.994000	0.49952	0.939000	0.58152	5.623000	0.67757	2.142000	0.66516	0.511000	0.50034	GCC	RAVER1	-	NULL	ENSG00000161847		0.726	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1	24	0.00	0	C	NM_133452		10434107	10434107	-1	no_errors	ENST00000293677	ensembl	human	known	69_37n	missense	8	35.71	5	SNP	1.000	T
SORCS1	114815	genome.wustl.edu	37	10	108412155	108412155	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr10:108412155C>G	ENST00000263054.6	-	18	2467	c.2460G>C	c.(2458-2460)atG>atC	p.M820I	SORCS1_ENST00000344440.6_Missense_Mutation_p.M820I|SORCS1_ENST00000369698.1_Missense_Mutation_p.M355I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	820	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.M820I(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTAATTGCACCATGAGAGTGA	0.498																																						dbGAP											2	Substitution - Missense(2)	breast(2)											123.0	110.0	114.0					10																	108412155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2460G>C	10.37:g.108412155C>G	ENSP00000263054:p.Met820Ile		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.M820I	ENST00000263054.6	37	c.2460	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	2.569	-0.300034	0.05532	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.65364	-0.15;-0.15;-0.15	5.56	5.56	0.83823	PKD/Chitinase domain (1);PKD domain (3);	0.321368	0.31834	N	0.006984	T	0.31638	0.0803	N	0.01109	-1.01	0.30697	N	0.750706	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0	B;B;B;B;B	0.11329	0.004;0.004;0.002;0.006;0.002	T	0.17715	-1.0360	9	.	.	.	-14.5069	14.365	0.66801	0.148:0.852:0.0:0.0	.	820;820;820;820;820	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	355;820;820	ENSP00000358712:M355I;ENSP00000263054:M820I;ENSP00000345964:M820I	.	M	-	3	0	SORCS1	108402145	0.999000	0.42202	1.000000	0.80357	0.808000	0.45660	0.690000	0.25451	2.607000	0.88179	0.655000	0.94253	ATG	SORCS1	-	pfam_PKD_dom,superfamily_PKD_dom	ENSG00000108018		0.498	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	133	0.00	0	C	NM_052918		108412155	108412155	-1	no_errors	ENST00000344440	ensembl	human	known	69_37n	missense	121	17.69	26	SNP	1.000	G
SPEN	23013	genome.wustl.edu	37	1	16254679	16254679	+	Silent	SNP	G	G	A			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr1:16254679G>A	ENST00000375759.3	+	11	2148	c.1944G>A	c.(1942-1944)cgG>cgA	p.R648R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	648	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R648R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATTCCAGGCGGGACTATCCAG	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											96.0	96.0	96.0					1																	16254679		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1944G>A	1.37:g.16254679G>A			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R648	ENST00000375759.3	37	c.1944	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.468	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	84	0.00	0	G	NM_015001		16254679	16254679	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	82	18.00	18	SNP	0.952	A
TBC1D3P1-DHX40P1	653645	genome.wustl.edu	37	17	58092166	58092166	+	lincRNA	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr17:58092166C>T	ENST00000407042.3	-	0	433									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene									p.G108S(1)									CACATCGGGCCCCGGATGTTC	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)																																								-	-	-			0					17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58092166C>T				RNA	SNP	-	NULL	ENST00000407042.3	37	NULL		17	.	.	.	.	.	.	.	.	.	.	c	14.49	2.551406	0.45487	.	.	ENSG00000238283	ENST00000407042	.	.	.	.	.	.	.	0.064020	0.64402	U	0.000008	T	0.43612	0.1255	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50915	-0.8771	4	0.46703	T	0.11	.	5.9099	0.19023	0.0:0.9993:0.0:7.0E-4	.	.	.	.	S	108	.	ENSP00000383952:G108S	G	-	1	0	AC005702.1	55446948	0.999000	0.42202	0.069000	0.20011	0.070000	0.16714	2.328000	0.43867	0.121000	0.18284	0.123000	0.15791	GGC	TBC1D3P1-DHX40P1	-	-	ENSG00000267104		0.557	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	HGNC	lincRNA		43	0.00	0	C	NR_002924		58092166	58092166	-1	no_errors	ENST00000407042	ensembl	human	known	69_37n	rna	19	24.00	6	SNP	1.000	T
TCF3	6929	genome.wustl.edu	37	19	1612215	1612216	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr19:1612215_1612216insTA	ENST00000344749.5	-	18	1869_1870	c.1803_1804insTA	c.(1801-1806)cagcagfs	p.Q602fs	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Frame_Shift_Ins_p.Q602fs|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Frame_Shift_Ins_p.Q517fs	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGCACCTGCTGCTCCAGCC	0.678			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	dbGAP		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1803_1804insTA	19.37:g.1612215_1612216insTA	ENSP00000344375:p.Gln602fs		Q53R97|Q6PD70|Q9NP00	Frame_Shift_Ins	INS	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.Q601fs	ENST00000344749.5	37	c.1804_1803	CCDS45899.1	19																																																																																			TCF3	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd	ENSG00000071564		0.678	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF3	HGNC	protein_coding	OTTHUMT00000449375.1	14	0.00	0	-	NM_003200		1612215	1612216	-1	no_errors	ENST00000344749	ensembl	human	known	69_37n	frame_shift_ins	9	35.71	5	INS	1.000:1.000	TA
TOPORS	10210	genome.wustl.edu	37	9	32541997	32541997	+	Silent	SNP	G	G	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr9:32541997G>T	ENST00000360538.2	-	3	2642	c.2526C>A	c.(2524-2526)acC>acA	p.T842T	TOPORS_ENST00000379858.1_Silent_p.T777T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	842	Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T842T(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGTCTGAAAAGGTATCACTCT	0.393																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											195.0	193.0	193.0					9																	32541997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2526C>A	9.37:g.32541997G>T			O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T842	ENST00000360538.2	37	c.2526	CCDS6527.1	9																																																																																			TOPORS	-	NULL	ENSG00000197579		0.393	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	132	0.00	0	G	NM_005802		32541997	32541997	-1	no_errors	ENST00000360538	ensembl	human	known	69_37n	silent	105	17.97	23	SNP	1.000	T
UPF3B	65109	genome.wustl.edu	37	X	118968924	118968924	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chrX:118968924C>T	ENST00000276201.2	-	11	1438	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	UPF3B_ENST00000345865.2_Missense_Mutation_p.D444N	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	457	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D457N(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTGGTGCTGTCATCAGGGGGA	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											227.0	187.0	201.0					X																	118968924		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1369G>A	X.37:g.118968924C>T	ENSP00000276201:p.Asp457Asn		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.D457N	ENST00000276201.2	37	c.1369	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717193	0.68844	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.77750	-1.12;-1.11	5.29	5.29	0.74685	.	0.286062	0.38837	N	0.001557	T	0.75946	0.3919	L	0.60455	1.87	0.43234	D	0.99513	P;P	0.40534	0.72;0.598	B;B	0.43728	0.429;0.247	T	0.72763	-0.4195	10	0.07175	T	0.84	.	17.1582	0.86797	0.0:1.0:0.0:0.0	.	444;457	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	N	457;444	ENSP00000276201:D457N;ENSP00000245418:D444N	ENSP00000276201:D457N	D	-	1	0	UPF3B	118852952	1.000000	0.71417	0.593000	0.28771	0.894000	0.52154	5.658000	0.68003	2.349000	0.79799	0.544000	0.68410	GAC	UPF3B	-	NULL	ENSG00000125351		0.468	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	174	0.00	0	C			118968924	118968924	-1	no_errors	ENST00000276201	ensembl	human	known	69_37n	missense	155	29.86	66	SNP	0.996	T
USP39	10713	genome.wustl.edu	37	2	85857864	85857864	+	Silent	SNP	T	T	G			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr2:85857864T>G	ENST00000323701.6	+	6	754	c.744T>G	c.(742-744)ccT>ccG	p.P248P	USP39_ENST00000450066.2_Silent_p.P145P|USP39_ENST00000409025.1_Silent_p.P248P|USP39_ENST00000409766.3_Silent_p.P248P|USP39_ENST00000409470.1_Silent_p.P248P|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	248	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)	p.P248P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						ATGTTCCTCCTCTCCGGAACT	0.438																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	106.0	105.0					2																	85857864		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.744T>G	2.37:g.85857864T>G			A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.P248	ENST00000323701.6	37	c.744	CCDS33234.1	2																																																																																			USP39	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000168883		0.438	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	81	0.00	0	T	NM_006590		85857864	85857864	+1	no_errors	ENST00000409470	ensembl	human	known	69_37n	silent	72	14.29	12	SNP	1.000	G
CFAP43	80217	genome.wustl.edu	37	10	105922136	105922136	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr10:105922136G>A	ENST00000357060.3	-	25	3387	c.3272C>T	c.(3271-3273)cCg>cTg	p.P1091L	WDR96_ENST00000428666.1_Missense_Mutation_p.P1092L	NM_025145.5	NP_079421.5												p.P1091L(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTGCCACGGCTTAATGTG	0.403																																						dbGAP											2	Substitution - Missense(2)	prostate(1)|breast(1)											168.0	136.0	147.0					10																	105922136		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000357060.3:c.3272C>T	10.37:g.105922136G>A	ENSP00000349568:p.Pro1091Leu			Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.P1091L	ENST00000357060.3	37	c.3272	CCDS31281.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.167991|2.167991	0.38315|0.38315	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.18502|.	2.21;2.21|.	5.3|5.3	4.36|4.36	0.52297|0.52297	.|.	0.138776|.	0.48767|.	N|.	0.000166|.	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.79693|0.79693	2.465|2.465	0.19575|0.19575	N|N	0.999968|0.999968	P;D|.	0.56035|.	0.95;0.974|.	P;P|.	0.48982|.	0.597;0.543|.	T|T	0.53500|0.53500	-0.8430|-0.8430	10|5	0.23891|.	T|.	0.37|.	.|.	9.4421|9.4421	0.38675|0.38675	0.1037:0.0:0.8963:0.0|0.1037:0.0:0.8963:0.0	.|.	1092;1091|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	L|C	1091;1092|452	ENSP00000349568:P1091L;ENSP00000400289:P1092L|.	ENSP00000349568:P1091L|.	P|R	-|-	2|1	0|0	WDR96|WDR96	105912126|105912126	0.017000|0.017000	0.18338|0.18338	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	2.033000|2.033000	0.41136|0.41136	1.296000|1.296000	0.44742|0.44742	0.542000|0.542000	0.68232|0.68232	CCG|CGT	WDR96	-	NULL	ENSG00000197748		0.403	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		184	0.00	0	G			105922136	105922136	-1	no_errors	ENST00000357060	ensembl	human	known	69_37n	missense	134	17.28	28	SNP	0.004	A
XK	7504	genome.wustl.edu	37	X	37553705	37553705	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chrX:37553705C>T	ENST00000378616.3	+	2	615	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	138					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.R138W(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGCGTTCAGCCGGGCGTCGGT	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											101.0	70.0	80.0					X																	37553705		2201	4295	6496	-	-	-	SO:0001583	missense	0			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.412C>T	X.37:g.37553705C>T	ENSP00000367879:p.Arg138Trp		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R138W	ENST00000378616.3	37	c.412	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661475	0.47572	.	.	ENSG00000047597	ENST00000378616	T	0.64618	-0.11	6.04	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	10	0.56958	D	0.05	-17.3838	16.0952	0.81114	0.3006:0.6994:0.0:0.0	.	138	P51811	XK_HUMAN	W	138	ENSP00000367879:R138W	ENSP00000367879:R138W	R	+	1	2	XK	37438644	1.000000	0.71417	0.999000	0.59377	0.204000	0.24138	2.808000	0.47963	1.279000	0.44446	0.513000	0.50165	CGG	XK	-	pfam_Transport_prot_XK	ENSG00000047597		0.547	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	151	0.00	0	C	NM_021083		37553705	37553705	+1	no_errors	ENST00000378616	ensembl	human	known	69_37n	missense	199	11.56	26	SNP	0.998	T
ZFHX4	79776	genome.wustl.edu	37	8	77768353	77768353	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr8:77768353C>T	ENST00000521891.2	+	10	9644	c.9196C>T	c.(9196-9198)Cgt>Tgt	p.R3066C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3021C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3040C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3021C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3021	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R3050C(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAACTTGATCGTATAAAGAA	0.547										HNSCC(33;0.089)																												dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)											111.0	112.0	112.0					8																	77768353		2045	4199	6244	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9196C>T	8.37:g.77768353C>T	ENSP00000430497:p.Arg3066Cys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R3066C	ENST00000521891.2	37	c.9196	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365097	0.61513	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58506	0.33;0.4;0.33;0.35	5.33	5.33	0.75918	.	0.000000	0.44483	U	0.000447	T	0.76622	0.4013	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.78280	-0.2265	10	0.87932	D	0	.	19.215	0.93772	0.0:1.0:0.0:0.0	.	3021;3021;3066	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	3066;3050;3021;3021;3040	ENSP00000430497:R3066C;ENSP00000399605:R3021C;ENSP00000050961:R3021C;ENSP00000430848:R3040C	ENSP00000050961:R3021C	R	+	1	0	ZFHX4	77930908	1.000000	0.71417	0.966000	0.40874	0.912000	0.54170	7.635000	0.83286	2.777000	0.95525	0.655000	0.94253	CGT	ZFHX4	-	NULL	ENSG00000091656		0.547	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	63	0.00	0	C	NM_024721		77768353	77768353	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	54	23.94	17	SNP	1.000	T
ZNF765	91661	genome.wustl.edu	37	19	53911368	53911368	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr19:53911368A>G	ENST00000396408.3	+	4	677	c.560A>G	c.(559-561)cAt>cGt	p.H187R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H187R(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CCTGAAACCCATATTTCTAAT	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	71.0	70.0					19																	53911368		2172	4283	6455	-	-	-	SO:0001583	missense	0			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.560A>G	19.37:g.53911368A>G	ENSP00000379689:p.His187Arg		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H187R	ENST00000396408.3	37	c.560	CCDS46171.1	19	.	.	.	.	.	.	.	.	.	.	A	4.880	0.163543	0.09287	.	.	ENSG00000196417	ENST00000396408	T	0.07327	3.2	0.439	0.439	0.16567	.	.	.	.	.	T	0.07143	0.0181	L	0.42245	1.32	0.09310	N	1	B	0.12013	0.005	B	0.17722	0.019	T	0.39643	-0.9604	7	.	.	.	.	.	.	.	.	187	Q7L2R6	ZN765_HUMAN	R	187	ENSP00000379689:H187R	.	H	+	2	0	ZNF765	58603180	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.486000	0.06513	0.376000	0.24707	0.147000	0.16070	CAT	ZNF765	-	NULL	ENSG00000196417		0.353	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000371603.1	76	0.00	0	A	NM_138372		53911368	53911368	+1	no_errors	ENST00000396408	ensembl	human	known	69_37n	missense	106	16.41	21	SNP	0.002	G
ZSCAN21	7589	genome.wustl.edu	37	7	99654841	99654841	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EB-01A-11W-A050-09	TCGA-BH-A0EB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3861ca01-bcc3-42a9-835d-1ef9f1a053bd	991496de-9acd-43e0-b853-2c19c155254e	g.chr7:99654841G>A	ENST00000292450.4	+	2	376	c.212G>A	c.(211-213)tGt>tAt	p.C71Y	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.C71Y|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.C71Y|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	71	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C71Y(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTGCTCTGCTGTGAGTGGCTG	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											52.0	55.0	54.0					7																	99654841		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.212G>A	7.37:g.99654841G>A	ENSP00000292450:p.Cys71Tyr		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C71Y	ENST00000292450.4	37	c.212	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165357	0.21538	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	4.91	4.91	0.64330	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.41001	D	0.000974	T	0.14184	0.0343	L	0.39397	1.21	0.45979	D	0.99879	D;D	0.71674	0.993;0.998	D;D	0.70227	0.967;0.968	T	0.12426	-1.0548	10	0.13853	T	0.58	.	13.7845	0.63102	0.0:0.0:1.0:0.0	.	71;71	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	Y	71	ENSP00000441212:C71Y;ENSP00000292450:C71Y;ENSP00000390960:C71Y;ENSP00000404207:C71Y	ENSP00000292450:C71Y	C	+	2	0	ZSCAN21	99492777	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.652000	0.37313	2.721000	0.93114	0.655000	0.94253	TGT	ZSCAN21	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000166529		0.627	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	HGNC	protein_coding	OTTHUMT00000336166.1	43	0.00	0	G	NM_145914		99654841	99654841	+1	no_errors	ENST00000292450	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	A
