#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCC2	1244	genome.wustl.edu	37	10	101554170	101554170	+	Splice_Site	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:101554170A>T	ENST00000370449.4	+	6	690	c.577A>T	c.(577-579)Aat>Tat	p.N193Y	ABCC2_ENST00000496621.1_3'UTR|ABCC2_ENST00000370434.1_Splice_Site_p.N193Y	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	193					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGTCTTTCAGAATCCATCATC	0.383																																																	0													142.0	120.0	127.0					10																	101554170		2203	4300	6503	SO:0001630	splice_region_variant	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.577-1A>T	10.37:g.101554170A>T			B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.N193Y	ENST00000370449.4	37	c.577	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	A	3.173	-0.169637	0.06461	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	D;D	0.87029	-2.2;-2.2	5.79	3.46	0.39613	.	0.086934	0.85682	D	0.000000	D	0.90566	0.7043	M	0.66439	2.03	0.53688	D	0.999973	D	0.89917	1.0	D	0.68621	0.959	D	0.88043	0.2782	9	.	.	.	-8.03	8.5721	0.33576	0.8018:0.131:0.0672:0.0	.	193	Q92887	MRP2_HUMAN	Y	193	ENSP00000359478:N193Y;ENSP00000359463:N193Y	.	N	+	1	0	ABCC2	101544160	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	4.114000	0.57858	0.459000	0.27016	0.454000	0.30748	AAT	ABCC2	-	tigrfam_Multidrug-R_assoc	ENSG00000023839		0.383	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0.00	38	0	A	NM_000392	Missense_Mutation	101554170	+1	tier1	-	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
ACVR1	90	genome.wustl.edu	37	2	158617468	158617468	+	Silent	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:158617468G>A	ENST00000263640.3	-	9	1617	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	ACVR1_ENST00000410057.2_Silent_p.F396F|ACVR1_ENST00000409283.2_Silent_p.F396F|ACVR1_ENST00000434821.1_Silent_p.F396F	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TATAAGAATCGAAACAATCCA	0.473																																																	0													65.0	62.0	63.0					2																	158617468		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1188C>T	2.37:g.158617468G>A				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.F396	ENST00000263640.3	37	c.1188	CCDS2206.1	2																																																																																			ACVR1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000115170		0.473	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	HGNC	protein_coding	OTTHUMT00000254927.1	-	0.00	47	0	G	NM_001105		158617468	-1	tier1	-	no_errors	ENST00000263640	ensembl	human	known	74_37	silent	18.37	40	9	SNP	0.920	A
ABI2	10152	genome.wustl.edu	37	2	204240780	204240780	+	Splice_Site	SNP	G	G	A	rs527436964	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:204240780G>A	ENST00000261016.6	+	3	406	c.75G>A	c.(73-75)aaG>aaA	p.K25K	ABI2_ENST00000261017.5_Intron|ABI2_ENST00000422511.2_Intron|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000424558.1_Intron|ABI2_ENST00000295851.5_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	71					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CTATACTTAGGCAAATTAGAG	0.318																																																	0																																										SO:0001630	splice_region_variant	0			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000261016.6:c.75-1G>A	2.37:g.204240780G>A			B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfscan_T_SNARE_dom	p.A107T	ENST00000261016.6	37	c.319		2																																																																																			ABI2	-	pfscan_T_SNARE_dom	ENSG00000138443		0.318	ABI2-201	KNOWN	basic	protein_coding	ABI2	HGNC	protein_coding		-	0.00	45	0	G	NM_005759	Silent	204240780	+1	tier1	-	no_errors	ENST00000431886	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.040	A
ACVR2B	93	genome.wustl.edu	37	3	38519461	38519461	+	Splice_Site	SNP	G	G	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:38519461G>C	ENST00000352511.4	+	3	842	c.370G>C	c.(370-372)Gtc>Ctc	p.V124L		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	124					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GGGCCCGGAAGGTAAGGGGGC	0.607																																																	0													61.0	64.0	63.0					3																	38519461		2203	4300	6503	SO:0001630	splice_region_variant	0			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.370+1G>C	3.37:g.38519461G>C			Q4VAV0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.V124L	ENST00000352511.4	37	c.370	CCDS2679.1	3	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433148	0.25813	.	.	ENSG00000114739	ENST00000352511	D	0.83837	-1.77	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000005	T	0.74680	0.3748	L	0.29908	0.895	0.58432	D	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.69339	-0.5171	10	0.27785	T	0.31	.	15.961	0.79930	0.0:0.0:1.0:0.0	.	124	Q13705	AVR2B_HUMAN	L	124	ENSP00000340361:V124L	ENSP00000340361:V124L	V	+	1	0	ACVR2B	38494465	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	5.608000	0.67654	2.203000	0.70933	0.462000	0.41574	GTC	ACVR2B	-	NULL	ENSG00000114739		0.607	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2B	HGNC	protein_coding	OTTHUMT00000254059.3	-	0.00	36	0	G	NM_001106	Missense_Mutation	38519461	+1	tier1	-	no_errors	ENST00000352511	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	C
ADH1C	126	genome.wustl.edu	37	4	100273840	100273840	+	RNA	DEL	C	C	-	rs540351993		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:100273840delC	ENST00000510055.1	-	0	47				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CATATTGATTCTGTCTTCTCT	0.338																																																	0													132.0	128.0	129.0					4																	100273840		2203	4300	6503			0			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100273840delC			Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	DEL	-	NULL	ENST00000510055.1	37	NULL		4																																																																																			ADH1C	-	-	ENSG00000248144		0.338	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	ADH1C	HGNC	polymorphic_pseudogene	OTTHUMT00000365189.2		0.00	77	0	C	NM_000669		100273840	-1	tier1		no_errors	ENST00000505942	ensembl	human	known	74_37	rna	13.79	50	8	DEL	0.196	-
ADORA1	134	genome.wustl.edu	37	1	203134554	203134554	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:203134554C>T	ENST00000367236.4	+	3	1428	c.507C>T	c.(505-507)tgC>tgT	p.C169C	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.C169C|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.C169C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	169					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TGATCAAGTGCGAGTTCGAGA	0.582																																																	0													163.0	162.0	163.0					1																	203134554		2203	4300	6503	SO:0001819	synonymous_variant	0			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.507C>T	1.37:g.203134554C>T			A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt	p.C169	ENST00000367236.4	37	c.507	CCDS1434.1	1																																																																																			ADORA1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt	ENSG00000163485		0.582	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	-	0.00	55	0	C	NM_000674		203134554	+1	tier1	-	no_errors	ENST00000309502	ensembl	human	known	74_37	silent	43.94	37	29	SNP	0.946	T
AFF1	4299	genome.wustl.edu	37	4	88011154	88011154	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:88011154C>T	ENST00000307808.6	+	5	1522	c.1102C>T	c.(1102-1104)Ccg>Tcg	p.P368S	AFF1_ENST00000544085.1_Missense_Mutation_p.P6S|AFF1_ENST00000395146.4_Missense_Mutation_p.P375S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	368					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCATTCATGGCCGCCTCCTTT	0.373																																																	0													98.0	91.0	93.0					4																	88011154		2203	4300	6503	SO:0001583	missense	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1102C>T	4.37:g.88011154C>T	ENSP00000305689:p.Pro368Ser		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P375S	ENST00000307808.6	37	c.1123	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354583	0.82243	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000507468;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.83468	0.5261	M	0.83118	2.625	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.999	D	0.85287	0.1065	10	0.59425	D	0.04	-16.8724	17.8608	0.88780	0.0:1.0:0.0:0.0	.	375;368;368;375	E9PBM3;Q14C88;P51825;B4DTU1	.;.;AFF1_HUMAN;.	S	375;29;374;368;6;6;59	ENSP00000378578:P375S;ENSP00000427593:P374S;ENSP00000305689:P368S;ENSP00000424766:P6S;ENSP00000440843:P6S;ENSP00000424881:P59S	ENSP00000305689:P368S	P	+	1	0	AFF1	88230178	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	6.188000	0.72045	2.515000	0.84797	0.650000	0.86243	CCG	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.373	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3		0.00	49	0	C	NM_005935		88011154	+1			no_errors	ENST00000395146	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
AIM1L	55057	genome.wustl.edu	37	1	26670703	26670703	+	5'Flank	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:26670703C>T	ENST00000308182.5	-	0	0				AIM1L_ENST00000527815.1_5'Flank			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like								carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCCTGGGGTCCGGGGCCCAGC	0.637																																																	0																																										SO:0001631	upstream_gene_variant	0					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490		1.37:g.26670703C>T	Exception_encountered		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	superfamily_PDZ	p.G161R	ENST00000308182.5	37	c.481		1																																																																																			AIM1L	-	NULL	ENSG00000176092		0.637	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		-	0.00	61	0	C	NM_001039775.2		26670703	-1	tier1	-	no_errors	ENST00000374207	ensembl	human	known	74_37	missense	26.56	47	17	SNP	0.000	T
ANKS1B	56899	genome.wustl.edu	37	12	99139573	99139573	+	Intron	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:99139573G>A	ENST00000547776.2	-	25	3672				ANKS1B_ENST00000333732.7_Missense_Mutation_p.P272S|ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000550693.2_Missense_Mutation_p.P433S|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P433S|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P493S|ANKS1B_ENST00000549025.2_Missense_Mutation_p.P340S|ANKS1B_ENST00000547446.1_Missense_Mutation_p.P377S|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P409S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTTGGCCCGGCTCCACAATC	0.547																																																	0													101.0	103.0	102.0					12																	99139573		1895	4125	6020	SO:0001627	intron_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3672+5559C>T	12.37:g.99139573G>A			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_SAM/pointed,smart_SAM,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SAM	p.P493S	ENST00000547776.2	37	c.1477	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367116	0.61513	.	.	ENSG00000185046	ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362	T;T;T;D;T;T;T	0.82619	-1.43;-0.6;-1.48;-1.63;-1.05;-1.42;-1.14	4.66	4.66	0.58398	.	.	.	.	.	D	0.86936	0.6053	L	0.33485	1.01	0.40954	D	0.984565	D;D;D;D;D;P;P;D;D	0.71674	0.996;0.998;0.997;0.998;0.997;0.911;0.911;0.998;0.966	D;D;D;D;D;P;P;D;P	0.80764	0.986;0.994;0.986;0.994;0.986;0.756;0.674;0.994;0.747	D	0.88893	0.3347	9	0.62326	D	0.03	.	17.9099	0.88930	0.0:0.0:1.0:0.0	.	377;272;273;433;382;457;409;493;340	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9	.;.;.;.;.;.;.;.;.	S	433;340;493;377;272;409;433;333	ENSP00000447999:P433S;ENSP00000447312:P340S;ENSP00000448203:P493S;ENSP00000450015:P377S;ENSP00000331256:P272S;ENSP00000448205:P409S;ENSP00000332683:P433S	ENSP00000332683:P433S	P	-	1	0	ANKS1B	97663704	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.303000	0.78871	2.267000	0.75376	0.549000	0.68633	CCG	ANKS1B	-	NULL	ENSG00000185046		0.547	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	-	0.00	24	0	G	NM_020140		99139573	-1	tier1	-	no_errors	ENST00000549493	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	A
AOX1	316	genome.wustl.edu	37	2	201473840	201473840	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:201473840C>T	ENST00000374700.2	+	11	1282	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	347	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGCTGGGTCCCAGATCAGGA	0.463																																																	0													92.0	89.0	90.0					2																	201473840		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1041C>T	2.37:g.201473840C>T			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.S347	ENST00000374700.2	37	c.1041	CCDS33360.1	2																																																																																			AOX1	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.463	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	-	0.00	35	0	C	NM_001159		201473840	+1	tier1	-	no_errors	ENST00000374700	ensembl	human	known	74_37	silent	37.14	22	13	SNP	0.001	T
APEH	327	genome.wustl.edu	37	3	49713608	49713608	+	Missense_Mutation	SNP	G	G	A	rs374901664		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:49713608G>A	ENST00000296456.5	+	6	962	c.562G>A	c.(562-564)Gat>Aat	p.D188N	APEH_ENST00000438011.1_Missense_Mutation_p.D188N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	188					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGTGCCAGCGATGATGAGAT	0.587																																																	0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	54.0	54.0	54.0		562	4.5	0.7	3		54	0,8600		0,0,4300	no	missense	APEH	NM_001640.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	188/733	49713608	1,13005	2203	4300	6503	SO:0001583	missense	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.562G>A	3.37:g.49713608G>A	ENSP00000296456:p.Asp188Asn		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.D188N	ENST00000296456.5	37	c.562	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434598	0.43224	2.27E-4	0.0	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T	0.50813	0.87;0.87;0.73	4.51	4.51	0.55191	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.114932	0.56097	D	0.000021	T	0.26304	0.0642	N	0.08118	0	0.31267	N	0.692221	B;B	0.25007	0.022;0.116	B;B	0.18263	0.007;0.021	T	0.14559	-1.0468	10	0.19147	T	0.46	-0.4742	13.9779	0.64284	0.0:0.0:0.8484:0.1516	.	188;188	C9JIF9;P13798	.;ACPH_HUMAN	N	188;87;113;188;185	ENSP00000296456:D188N;ENSP00000415862:D188N;ENSP00000410366:D185N	ENSP00000296456:D188N	D	+	1	0	APEH	49688612	0.998000	0.40836	0.723000	0.30687	0.919000	0.55068	2.474000	0.45154	2.336000	0.79503	0.591000	0.81541	GAT	APEH	-	NULL	ENSG00000164062		0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	HGNC	protein_coding	OTTHUMT00000346415.2	-	0.00	42	0	G			49713608	+1	tier1	-	no_errors	ENST00000296456	ensembl	human	known	74_37	missense	54.55	10	12	SNP	0.863	A
APOBEC3G	60489	genome.wustl.edu	37	22	39482536	39482536	+	Missense_Mutation	SNP	G	G	A	rs142051350		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr22:39482536G>A	ENST00000407997.3	+	6	1345	c.988G>A	c.(988-990)Gag>Aag	p.E330K	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.E330K	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	330	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CACCCTGGCCGAGGCTGGGGC	0.522													g|||	1	0.000199681	0.0	0.0	5008	,	,		17387	0.0		0.001	False		,,,				2504	0.0																0									LYS/GLU	1,4405		0,1,2202	98.0	109.0	106.0		988	-3.0	0.0	22	dbSNP_134	106	0,8600		0,0,4300	no	missense	APOBEC3G	NM_021822.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	330/385	39482536	1,13005	2203	4300	6503	SO:0001583	missense	0			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.988G>A	22.37:g.39482536G>A	ENSP00000385057:p.Glu330Lys		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.E330K	ENST00000407997.3	37	c.988	CCDS13984.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.115	-1.133200	0.01756	2.27E-4	0.0	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.63096	-0.02;-0.02	1.51	-3.01	0.05463	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.34745	0.0908	N	0.11201	0.11	0.09310	N	1	B	0.23442	0.085	B	0.20384	0.029	T	0.17961	-1.0352	9	0.19590	T	0.45	.	6.9267	0.24419	0.5351:0.0:0.4649:0.0	.	330	Q9HC16	ABC3G_HUMAN	K	330	ENSP00000413376:E330K;ENSP00000385057:E330K	ENSP00000385057:E330K	E	+	1	0	APOBEC3G	37812482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.711000	0.05019	-0.912000	0.03837	-0.519000	0.04390	GAG	APOBEC3G	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	ENSG00000239713		0.522	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1		0.00	55	0	G	NM_021822		39482536	+1			no_errors	ENST00000407997	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.000	A
ARID4B	51742	genome.wustl.edu	37	1	235335957	235335957	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:235335957G>A	ENST00000264183.3	-	23	4284	c.3787C>T	c.(3787-3789)Cgt>Tgt	p.R1263C	ARID4B_ENST00000366603.2_Missense_Mutation_p.R1263C|ARID4B-IT1_ENST00000357671.6_RNA|ARID4B_ENST00000349213.3_Missense_Mutation_p.R1177C	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1263					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTCTTTAAACGCTTTCTCCTC	0.333																																																	0													57.0	54.0	55.0					1																	235335957		2202	4300	6502	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3787C>T	1.37:g.235335957G>A	ENSP00000264183:p.Arg1263Cys		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R1263C	ENST00000264183.3	37	c.3787	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516941	0.85495	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.40476	1.03;1.11;1.11	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.61322	-0.7086	10	0.87932	D	0	-11.492	20.047	0.97613	0.0:0.0:1.0:0.0	.	1177;1263	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	C	1177;1263;1263	ENSP00000264184:R1177C;ENSP00000355562:R1263C;ENSP00000264183:R1263C	ENSP00000264183:R1263C	R	-	1	0	ARID4B	233402580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.297000	0.78799	2.821000	0.97095	0.555000	0.69702	CGT	ARID4B	-	NULL	ENSG00000054267		0.333	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3		0.00	41	0	G	NM_016374		235335957	-1			no_errors	ENST00000264183	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A
ARPC2	10109	genome.wustl.edu	37	2	219081926	219081926	+	5'UTR	SNP	A	A	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:219081926A>G	ENST00000315717.5	+	0	110				ARPC2_ENST00000295685.10_5'Flank	NM_152862.1	NP_690601.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GTGAAgcggcagtggcggcgg	0.756																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000315717.5:c.-60A>G	2.37:g.219081926A>G			Q92801|Q9P1D4	RNA	SNP	-	NULL	ENST00000315717.5	37	NULL	CCDS2410.1	2																																																																																			ARPC2	-	-	ENSG00000163466		0.756	ARPC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000259038.1	-	0.00	8	0	A	NM_005731		219081926	+1	tier1	-	no_errors	ENST00000478612	ensembl	human	known	74_37	rna	25.00	12	4	SNP	0.976	G
ASIC5	51802	genome.wustl.edu	37	4	156784805	156784805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:156784805delG	ENST00000537611.2	-	2	188	c.142delC	c.(142-144)catfs	p.H48fs	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	48					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TGTATCCCATGAAAGGAAGTG	0.458																																																	0													123.0	119.0	120.0					4																	156784805		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.142delC	4.37:g.156784805delG	ENSP00000442477:p.His48fs			Frame_Shift_Del	DEL	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.H48fs	ENST00000537611.2	37	c.142	CCDS3793.1	4																																																																																			ASIC5	-	pfam_Na+channel_ASC	ENSG00000256394		0.458	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1		0.00	66	0	G			156784805	-1	tier1		no_errors	ENST00000537611	ensembl	human	known	74_37	frame_shift_del	31.03	40	18	DEL	1.000	-
ASMT	438	genome.wustl.edu	37	X	1743260	1743260	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrX:1743260C>T	ENST00000381229.4	+	3	379	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	ASMT_ENST00000381233.3_Missense_Mutation_p.R115W|ASMT_ENST00000381241.3_Missense_Mutation_p.R115W			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	115			R -> W (in dbSNP:rs201053197). {ECO:0000269|PubMed:23349736}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GACCAGCTACCGGTGCTGGGG	0.642													c|||	3	0.000599042	0.0	0.0	5008	,	,		19507	0.001		0.001	False		,,,				2504	0.001																0													112.0	101.0	105.0					X																	1743260		2203	4296	6499	SO:0001583	missense	0			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.343C>T	X.37:g.1743260C>T	ENSP00000370627:p.Arg115Trp		B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	pfam_O_MeTrfase_2,pirsf_COMT	p.R115W	ENST00000381229.4	37	c.343		X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	8.867	0.948257	0.18356	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.20881	2.04;2.04;2.04	1.77	0.57	0.17347	.	1.444700	0.05213	U	0.507145	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	1	P;D	0.53151	0.899;0.958	B;P	0.50617	0.096;0.646	T	0.36625	-0.9740	10	0.66056	D	0.02	.	8.2986	0.32001	0.0:0.7568:0.2432:0.0	.	115;115	P46597-2;P46597-3	.;.	W	115	ENSP00000370639:R115W;ENSP00000370627:R115W;ENSP00000370631:R115W	ENSP00000370627:R115W	R	+	1	2	ASMT	1703260	0.001000	0.12720	0.024000	0.17045	0.021000	0.10359	-0.331000	0.07914	0.653000	0.30826	0.415000	0.27848	CGG	ASMT	-	pfam_O_MeTrfase_2,pirsf_COMT	ENSG00000196433		0.642	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	-	0.00	81	0	C	NM_004043		1743260	+1	tier1	-	no_errors	ENST00000381241	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.980	T
ASTN1	460	genome.wustl.edu	37	1	176852059	176852059	+	Missense_Mutation	SNP	G	G	A	rs572123720	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:176852059G>A	ENST00000367654.3	-	20	3533	c.3322C>T	c.(3322-3324)Ccg>Tcg	p.P1108S	ASTN1_ENST00000367657.3_Missense_Mutation_p.P1100S|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1100S|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1100S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1108	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGCTTGTCCGGCACCTGAGAT	0.498													G|||	7	0.00139776	0.0	0.0	5008	,	,		19824	0.0		0.0	False		,,,				2504	0.0072																0													166.0	142.0	150.0					1																	176852059		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3322C>T	1.37:g.176852059G>A	ENSP00000356626:p.Pro1108Ser		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.P1108S	ENST00000367654.3	37	c.3322		1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573865	0.86542	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.13657	2.57;2.99;2.99;2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	L	0.44542	1.39	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.01904	-1.1250	10	0.11794	T	0.64	-13.7427	19.3522	0.94393	0.0:0.0:1.0:0.0	.	1100;1100	O14525-2;B1AJS1	.;.	S	1100;1100;1108;1100;1100	ENSP00000356629:P1100S;ENSP00000354536:P1100S;ENSP00000356626:P1108S;ENSP00000395041:P1100S	ENSP00000354536:P1100S	P	-	1	0	ASTN1	175118682	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	9.246000	0.95438	2.672000	0.90937	0.467000	0.42956	CCG	ASTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000152092		0.498	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0.00	56	0	G	NM_004319		176852059	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
BAZ1B	9031	genome.wustl.edu	37	7	72873971	72873971	+	Silent	SNP	G	G	A	rs369382171		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:72873971G>A	ENST00000339594.4	-	13	3665	c.3327C>T	c.(3325-3327)ctC>ctT	p.L1109L	BAZ1B_ENST00000404251.1_Silent_p.L1109L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1109					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.L1109L(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAAGCCTTGGAGAAATTTCT	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - coding silent(1)	lung(1)						G		0,4406		0,0,2203	133.0	128.0	130.0		3327	-5.7	0.3	7		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAZ1B	NM_032408.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1109/1484	72873971	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3327C>T	7.37:g.72873971G>A			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1109	ENST00000339594.4	37	c.3327	CCDS5549.1	7																																																																																			BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	-	0.00	43	0	G	NM_032408		72873971	-1	tier1	-	no_errors	ENST00000339594	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.406	A
BICC1	80114	genome.wustl.edu	37	10	60273032	60273032	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:60273032C>T	ENST00000373886.3	+	1	133	c.129C>T	c.(127-129)agC>agT	p.S43S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	43					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCCTGCACAGCCCGGAGTGGA	0.672																																																	0													37.0	36.0	36.0					10																	60273032		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.129C>T	10.37:g.60273032C>T				Silent	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.S43	ENST00000373886.3	37	c.129	CCDS31206.1	10																																																																																			BICC1	-	NULL	ENSG00000122870		0.672	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0.00	53	0	C	NM_025044		60273032	+1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T
BNIPL	149428	genome.wustl.edu	37	1	151016187	151016187	+	Missense_Mutation	SNP	C	C	T	rs150118714		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:151016187C>T	ENST00000368931.3	+	7	991	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	BNIPL_ENST00000295294.7_Missense_Mutation_p.R197C	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	279	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.R279S(1)|p.R197S(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAGTGTTACCGTACCCTGGA	0.473																																																	2	Substitution - Missense(2)	lung(2)						C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	97.0	101.0		589,835	4.2	0.9	1	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense	BNIPL	NM_001159642.1,NM_138278.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	197/276,279/358	151016187	1,13005	2203	4300	6503	SO:0001583	missense	0			AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.835C>T	1.37:g.151016187C>T	ENSP00000357927:p.Arg279Cys		Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R279C	ENST00000368931.3	37	c.835	CCDS978.2	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632956	0.67015	2.27E-4	0.0	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.64438	-0.1;-0.1;-0.1	5.13	4.21	0.49690	Cellular retinaldehyde-binding/triple function, C-terminal (5);	1.063050	0.07163	N	0.851084	T	0.47229	0.1434	M	0.64997	1.995	0.46954	D	0.999266	B	0.14012	0.009	B	0.08055	0.003	T	0.52660	-0.8546	10	0.87932	D	0	.	11.1567	0.48491	0.0:0.911:0.0:0.089	.	279	Q7Z465	BNIPL_HUMAN	C	279;277;197	ENSP00000357927:R279C;ENSP00000355333:R277C;ENSP00000295294:R197C	ENSP00000295294:R197C	R	+	1	0	BNIPL	149282811	0.987000	0.35691	0.864000	0.33941	0.926000	0.56050	2.831000	0.48144	1.378000	0.46305	0.561000	0.74099	CGT	BNIPL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000163141		0.473	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIPL	HGNC	protein_coding	OTTHUMT00000085092.1	-	0.00	32	0	C	NM_138279		151016187	+1	tier1	rs150118714	no_errors	ENST00000368931	ensembl	human	known	74_37	missense	24.32	28	9	SNP	0.949	T
BPIFC	254240	genome.wustl.edu	37	22	32810404	32810404	+	Silent	SNP	A	A	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr22:32810404A>G	ENST00000397452.1	-	16	1520	c.1410T>C	c.(1408-1410)ctT>ctC	p.L470L	BPIFC_ENST00000300399.3_Silent_p.L470L|BPIFC_ENST00000432451.2_Silent_p.L227L|BPIFC_ENST00000534972.1_Silent_p.L194L|RTCB_ENST00000451746.2_5'Flank|RTCB_ENST00000216038.5_5'Flank			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	470						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGAAATCAAAAGGAAACCCT	0.458																																																	0													123.0	108.0	113.0					22																	32810404		2203	4300	6503	SO:0001819	synonymous_variant	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1410T>C	22.37:g.32810404A>G			A2RRF1	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L470	ENST00000397452.1	37	c.1410	CCDS13906.1	22																																																																																			BPIFC	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000184459		0.458	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	-	0.00	62	0	A	NM_174932		32810404	-1	tier1	-	no_errors	ENST00000300399	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.997	G
BAIAP2L1	55971	genome.wustl.edu	37	7	97920515	97920515	+	IGR	SNP	G	G	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:97920515G>C	ENST00000005260.8	-	0	3622				BRI3_ENST00000297290.3_Missense_Mutation_p.R113T|BRI3_ENST00000539286.1_Intron|BRI3_ENST00000473967.1_3'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGCCTTGAGGAAGCGACGA	0.537																																																	0													160.0	112.0	128.0					7																	97920515		2203	4300	6503	SO:0001628	intergenic_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117		7.37:g.97920515G>C			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_Brain_I3	p.R113T	ENST00000005260.8	37	c.338	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864826	0.51482	.	.	ENSG00000164713	ENST00000297290	T	0.48201	0.82	5.51	3.72	0.42706	.	0.202993	0.38381	N	0.001711	T	0.57961	0.2089	L	0.43152	1.355	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	T	0.58306	-0.7659	10	0.72032	D	0.01	-13.4392	11.091	0.48115	0.1444:0.0:0.8556:0.0	.	113	O95415	BRI3_HUMAN	T	113	ENSP00000297290:R113T	ENSP00000297290:R113T	R	+	2	0	BRI3	97758451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.703000	0.68340	0.707000	0.31934	0.655000	0.94253	AGG	BRI3	-	pfam_Brain_I3	ENSG00000164713		0.537	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3	HGNC	protein_coding	OTTHUMT00000334681.1	-	0.00	44	0	G	NM_018842		97920515	+1	tier1	-	no_errors	ENST00000297290	ensembl	human	known	74_37	missense	47.46	31	28	SNP	1.000	C
BRINP3	339479	genome.wustl.edu	37	1	190067356	190067356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:190067356G>T	ENST00000367462.3	-	8	2324	c.2093C>A	c.(2092-2094)tCa>tAa	p.S698*	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.S596*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	698					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAAAAGTGCTGAATCCTGGGA	0.468																																																	0													103.0	102.0	102.0					1																	190067356		2203	4300	6503	SO:0001587	stop_gained	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2093C>A	1.37:g.190067356G>T	ENSP00000356432:p.Ser698*		B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S698*	ENST00000367462.3	37	c.2093	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.972048	0.97162	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.72	4.79	0.61399	.	0.210834	0.42420	D	0.000703	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3961	0.67013	0.0:0.149:0.851:0.0	.	.	.	.	X	698;596	.	ENSP00000356432:S698X	S	-	2	0	FAM5C	188333979	1.000000	0.71417	0.889000	0.34880	0.912000	0.54170	9.760000	0.98935	1.382000	0.46385	0.650000	0.86243	TCA	BRINP3	-	NULL	ENSG00000162670		0.468	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0.00	38	0	G	NM_199051		190067356	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	nonsense	18.92	30	7	SNP	1.000	T
BTN3A2	11118	genome.wustl.edu	37	6	26368912	26368912	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:26368912A>C	ENST00000356386.2	+	4	393	c.205A>C	c.(205-207)Agt>Cgt	p.S69R	BTN3A2_ENST00000377708.2_Missense_Mutation_p.S69R|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396934.3_Missense_Mutation_p.S46R|BTN3A2_ENST00000527422.1_Missense_Mutation_p.S69R|BTN3A2_ENST00000508906.2_Missense_Mutation_p.S27R|BTN3A2_ENST00000396948.1_Missense_Mutation_p.S69R	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	69	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAAGTGGGTAAGTTCCAGCCT	0.567																																																	0													458.0	328.0	372.0					6																	26368912		2202	4298	6500	SO:0001583	missense	0			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.205A>C	6.37:g.26368912A>C	ENSP00000348751:p.Ser69Arg		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S69R	ENST00000356386.2	37	c.205	CCDS4605.1	6	.	.	.	.	.	.	.	.	.	.	a	0.038	-1.296708	0.01364	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000527417;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	3.17	-2.19	0.07015	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02571	0.0078	N	0.00013	-2.945	0.09310	N	1	B;B	0.16802	0.005;0.019	B;B	0.14578	0.007;0.011	T	0.48317	-0.9046	9	0.02654	T	1	.	10.2576	0.43408	0.7483:0.2517:0.0:0.0	.	46;69	F8W6E0;P78410	.;BT3A2_HUMAN	R	27;27;69;69;69;69;46;69;69;27	ENSP00000435952:S27R;ENSP00000434102:S27R;ENSP00000433749:S69R;ENSP00000432138:S69R;ENSP00000348751:S69R;ENSP00000380140:S46R;ENSP00000366937:S69R;ENSP00000380152:S69R;ENSP00000442687:S27R	ENSP00000348751:S69R	S	+	1	0	BTN3A2	26476891	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-3.220000	0.00552	-0.226000	0.09899	0.333000	0.21579	AGT	BTN3A2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000186470		0.567	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A2	HGNC	protein_coding	OTTHUMT00000040113.2	-	0.00	142	0	A			26368912	+1	tier1	-	no_errors	ENST00000356386	ensembl	human	known	74_37	missense	14.96	108	19	SNP	0.000	C
BTN3A1	11119	genome.wustl.edu	37	6	26406256	26406256	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:26406256A>C	ENST00000289361.6	+	3	573	c.205A>C	c.(205-207)Agt>Cgt	p.S69R	BTN3A1_ENST00000414912.2_Missense_Mutation_p.S69R|BTN3A1_ENST00000476549.2_Missense_Mutation_p.S69R|BTN3A1_ENST00000425234.2_Missense_Mutation_p.S69R	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	69	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAAGTGGGTGAGTTCCAGCCT	0.572																																																	0													91.0	148.0	129.0					6																	26406256		2201	4298	6499	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.205A>C	6.37:g.26406256A>C	ENSP00000289361:p.Ser69Arg		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.S69R	ENST00000289361.6	37	c.205	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	1.234	-0.623357	0.03636	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;4.56;0.21	2.06	-2.19	0.07015	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02119	0.0066	N	0.00013	-2.945	0.09310	N	1	B;B;B;B	0.15930	0.005;0.005;0.015;0.005	B;B;B;B	0.15052	0.008;0.012;0.007;0.008	T	0.40365	-0.9567	9	0.02654	T	1	.	5.4159	0.16374	0.5865:0.2559:0.1577:0.0	.	69;69;69;69	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	R	69	ENSP00000420010:S69R;ENSP00000289361:S69R;ENSP00000394937:S69R;ENSP00000396684:S69R;ENSP00000427013:S69R;ENSP00000406667:S69R	ENSP00000289361:S69R	S	+	1	0	BTN3A1	26514235	0.000000	0.05858	0.000000	0.03702	0.731000	0.41821	-0.717000	0.04986	-0.481000	0.06792	0.454000	0.30748	AGT	BTN3A1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000026950		0.572	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3		0.00	42	0	A			26406256	+1			no_errors	ENST00000289361	ensembl	human	known	74_37	missense	53.33	14	16	SNP	0.000	C
C12orf4	57102	genome.wustl.edu	37	12	4600369	4600369	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:4600369G>A	ENST00000261250.3	-	12	1559	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	C12orf4_ENST00000545746.1_Missense_Mutation_p.A491V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	491										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CACAAGTTCCGCTCTCCTTAA	0.368																																																	0													171.0	154.0	159.0					12																	4600369		2203	4300	6503	SO:0001583	missense	0			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1472C>T	12.37:g.4600369G>A	ENSP00000261250:p.Ala491Val		D3DUQ8|Q6MZH5	Missense_Mutation	SNP	pfam_DUF2362	p.A491V	ENST00000261250.3	37	c.1472	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.182679	0.94885	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.82917	0.5141	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84972	0.0883	9	0.87932	D	0	.	19.0916	0.93228	0.0:0.0:1.0:0.0	.	491	Q9NQ89	CL004_HUMAN	V	491	.	ENSP00000261250:A491V	A	-	2	0	C12orf4	4470630	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	8.907000	0.92634	2.576000	0.86940	0.585000	0.79938	GCG	C12orf4	-	pfam_DUF2362	ENSG00000047621		0.368	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	HGNC	protein_coding	OTTHUMT00000398992.1	-	0.00	58	0	G	NM_020374		4600369	-1	tier1	-	no_errors	ENST00000261250	ensembl	human	known	74_37	missense	17.91	55	12	SNP	1.000	A
C2CD3	26005	genome.wustl.edu	37	11	73881821	73881821	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:73881821C>A	ENST00000334126.7	-	1	243	c.17G>T	c.(16-18)gGc>gTc	p.G6V	PPME1_ENST00000398427.4_5'Flank|PPME1_ENST00000328257.8_5'Flank|C2CD3_ENST00000313663.7_Missense_Mutation_p.G6V|C2CD3_ENST00000539061.1_Missense_Mutation_p.G6V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	6					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGACCCTTGGCCTTTTCGTTG	0.542																																																	0													96.0	82.0	86.0					11																	73881821		2200	4293	6493	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.17G>T	11.37:g.73881821C>A	ENSP00000334379:p.Gly6Val		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.G6V	ENST00000334126.7	37	c.17		11	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926866	0.18056	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T;T	0.77877	-1.13;-1.13;-1.13	5.47	1.31	0.21738	.	0.642926	0.15651	N	0.251392	T	0.58509	0.2127	N	0.13043	0.29	0.43355	D	0.995426	B;B	0.20550	0.046;0.024	B;B	0.18263	0.014;0.021	T	0.41233	-0.9520	10	0.36615	T	0.2	0.0486	8.1699	0.31249	0.2875:0.4113:0.3012:0.0	.	6;6	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	V	6	ENSP00000334379:G6V;ENSP00000323339:G6V;ENSP00000445933:G6V	ENSP00000289350:G6V	G	-	2	0	C2CD3	73559469	0.969000	0.33509	0.341000	0.25589	0.321000	0.28281	0.034000	0.13776	-0.014000	0.14175	0.561000	0.74099	GGC	C2CD3	-	NULL	ENSG00000168014		0.542	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		-	0.00	52	0	C	NM_015531		73881821	-1	tier1	-	no_errors	ENST00000334126	ensembl	human	known	74_37	missense	21.74	54	15	SNP	0.553	A
C9orf24	84688	genome.wustl.edu	37	9	34379061	34379061	+	3'UTR	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:34379061G>A	ENST00000297623.2	-	0	1106				C9orf24_ENST00000379126.3_3'UTR|C9orf24_ENST00000379124.1_3'UTR|C9orf24_ENST00000379127.1_3'UTR|C9orf24_ENST00000379133.3_3'UTR|KIAA1161_ENST00000297625.7_5'Flank|C9orf24_ENST00000481295.1_5'UTR	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24						cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CCTTGGCACAGCAAGCCCAGG	0.517											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97.0	83.0	88.0					9																	34379061		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.*119C>T	9.37:g.34379061G>A		847	Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	RNA	SNP	-	NULL	ENST00000297623.2	37	NULL	CCDS6554.1	9																																																																																			C9orf24	-	-	ENSG00000164972		0.517	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf24	HGNC	protein_coding	OTTHUMT00000001098.3	-	0.00	42	0	G	NM_147169		34379061	-1	tier1	-	no_errors	ENST00000481295	ensembl	human	known	74_37	rna	12.90	27	4	SNP	0.000	A
CACNA1E	777	genome.wustl.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																																	0									,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R360fs	ENST00000367573.2	37	c.1068_1069	CCDS55664.1	1																																																																																			CACNA1E	-	prints_VDCCAlpha1	ENSG00000198216		0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2		0.00	46	0	AG	NM_000721		181680103	+1	tier1		no_errors	ENST00000367573	ensembl	human	known	74_37	frame_shift_del	6.38	44	3	DEL	1.000:1.000	-
CAND2	23066	genome.wustl.edu	37	3	12858877	12858877	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:12858877C>T	ENST00000456430.2	+	10	2487	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	CAND2_ENST00000295989.5_Missense_Mutation_p.P723S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	816					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCTGCCTGTCCCCAAGAGGC	0.642																																					GBM(43;676 868 1633 6395 37496)												0													45.0	51.0	49.0					3																	12858877		2049	4205	6254	SO:0001583	missense	0				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2446C>T	3.37:g.12858877C>T	ENSP00000387641:p.Pro816Ser		B9EGM9|E9KL24	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.P816S	ENST00000456430.2	37	c.2446	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873681	0.72180	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.65178	-0.14;-0.14	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	L	0.57536	1.79	0.80722	D	1	B;D	0.71674	0.435;0.998	B;D	0.80764	0.067;0.994	T	0.68025	-0.5518	10	0.14656	T	0.56	-8.0736	15.7692	0.78152	0.0:1.0:0.0:0.0	.	816;723	O75155;O75155-2	CAND2_HUMAN;.	S	723;816	ENSP00000295989:P723S;ENSP00000387641:P816S	ENSP00000295989:P723S	P	+	1	0	CAND2	12833877	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.728000	0.68531	2.359000	0.80004	0.561000	0.74099	CCC	CAND2	-	superfamily_ARM-type_fold	ENSG00000144712		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	-	0.00	63	0	C	XM_371617		12858877	+1	tier1	-	no_errors	ENST00000456430	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	T
CCR9	10803	genome.wustl.edu	37	3	45943064	45943064	+	Missense_Mutation	SNP	G	G	A	rs202070482	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:45943064G>A	ENST00000357632.2	+	3	964	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.V250I|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.V250I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	262					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGTCCTGACCGTCTTTGTCTT	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		24014	0.0		0.0	False		,,,				2504	0.0																0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	214.0	174.0	188.0		748,784	5.0	0.7	3		188	0,8600		0,0,4300	no	missense,missense	CCR9	NM_006641.3,NM_031200.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	250/358,262/370	45943064	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.784G>A	3.37:g.45943064G>A	ENSP00000350256:p.Val262Ile		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4	p.V262I	ENST00000357632.2	37	c.784	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800126	0.70567	2.27E-4	0.0	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.75154	-0.91;-0.91;-0.91	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.236680	0.34932	N	0.003572	D	0.83156	0.5193	M	0.64630	1.985	0.47621	D	0.999479	D	0.58268	0.982	P	0.60117	0.869	D	0.85147	0.0984	10	0.66056	D	0.02	.	18.243	0.89974	0.0:0.0:1.0:0.0	.	262	P51686	CCR9_HUMAN	I	262;250;250	ENSP00000350256:V262I;ENSP00000379292:V250I;ENSP00000348260:V250I	ENSP00000348260:V250I	V	+	1	0	CCR9	45918068	1.000000	0.71417	0.674000	0.29902	0.967000	0.64934	4.193000	0.58385	2.289000	0.77006	0.563000	0.77884	GTC	CCR9	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000173585		0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	-	0.00	46	0	G			45943064	+1	tier1	rs202070482	no_errors	ENST00000357632	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	A
CD207	50489	genome.wustl.edu	37	2	71058196	71058196	+	Silent	SNP	G	G	T	rs376932379		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:71058196G>T	ENST00000410009.3	-	6	1017	c.972C>A	c.(970-972)gtC>gtA	p.V324V		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	324					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTTCTGATGGGACATAGGGTC	0.478																																																	0													83.0	79.0	80.0					2																	71058196		1936	4136	6072	SO:0001819	synonymous_variant	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.972C>A	2.37:g.71058196G>T				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.V324	ENST00000410009.3	37	c.972		2																																																																																			CD207	-	NULL	ENSG00000116031		0.478	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	-	0.00	71	0	G	NM_015717		71058196	-1	tier1	-	no_errors	ENST00000410009	ensembl	human	known	74_37	silent	6.76	69	5	SNP	0.000	T
CD320	51293	genome.wustl.edu	37	19	8367714	8367714	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:8367714G>T	ENST00000301458.5	-	4	717	c.653C>A	c.(652-654)tCt>tAt	p.S218Y	CD320_ENST00000596246.1_5'Flank|CD320_ENST00000537716.2_Missense_Mutation_p.S176Y	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	218					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GTCTCCGGCAGAGGAGGATGT	0.607																																																	0													51.0	52.0	51.0					19																	8367714		2203	4300	6503	SO:0001583	missense	0			AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.653C>A	19.37:g.8367714G>T	ENSP00000301458:p.Ser218Tyr		B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.S218Y	ENST00000301458.5	37	c.653	CCDS12198.1	19	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430509	0.25726	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96967	-3.28;-4.19	3.37	-0.215	0.13157	.	1.424290	0.04491	N	0.379495	D	0.92941	0.7754	N	0.14661	0.345	0.09310	N	1	P;P	0.49696	0.927;0.881	P;B	0.49683	0.619;0.236	D	0.86913	0.2062	10	0.62326	D	0.03	1.3423	5.4247	0.16419	0.4432:0.0:0.5568:0.0	.	176;218	F5H6D3;Q9NPF0	.;CD320_HUMAN	Y	218;176	ENSP00000301458:S218Y;ENSP00000437697:S176Y	ENSP00000301458:S218Y	S	-	2	0	CD320	8273714	.	.	0.000000	0.03702	0.003000	0.03518	.	.	0.046000	0.15833	0.609000	0.83330	TCT	CD320	-	NULL	ENSG00000167775		0.607	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD320	HGNC	protein_coding	OTTHUMT00000461366.1	-	0.00	63	0	G	NM_016579		8367714	-1	tier1	-	no_errors	ENST00000301458	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.000	T
CD47	961	genome.wustl.edu	37	3	107762288	107762289	+	3'UTR	INS	-	-	A	rs201462458		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:107762288_107762289insA	ENST00000355354.7	-	0	4876_4877				CD47_ENST00000471694.1_5'UTR	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TTAATACATATAAAAAAAAAAA	0.267																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000355354.7:c.*3843->T	3.37:g.107762299_107762299dupA			A8K198|D3DN59|Q53Y71|Q96A60	RNA	INS	-	NULL	ENST00000355354.7	37	NULL	CCDS43125.1	3																																																																																			CD47	-	-	ENSG00000196776		0.267	CD47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102791.1		0.00	43	0	-	NM_001777		107762289	-1	tier1		no_errors	ENST00000471694	ensembl	human	known	74_37	rna	16.67	20	4	INS	0.002:0.021	A
CDH18	1016	genome.wustl.edu	37	5	19591263	19591263	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:19591263G>T	ENST00000507958.1	-	9	1892	c.902C>A	c.(901-903)gCt>gAt	p.A301D	CDH18_ENST00000274170.4_Missense_Mutation_p.A301D|CDH18_ENST00000506372.1_Missense_Mutation_p.A301D|CDH18_ENST00000502796.1_Missense_Mutation_p.A301D|CDH18_ENST00000511273.1_Missense_Mutation_p.A301D|CDH18_ENST00000382275.1_Missense_Mutation_p.A301D			Q13634	CAD18_HUMAN	cadherin 18, type 2	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A301V(4)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGTCATGTCAGCATTTGAGCC	0.423																																																	4	Substitution - Missense(4)	lung(4)											164.0	138.0	147.0					5																	19591263		2203	4300	6503	SO:0001583	missense	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.902C>A	5.37:g.19591263G>T	ENSP00000425093:p.Ala301Asp		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A301D	ENST00000507958.1	37	c.902	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893312	0.91889	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77958	-0.2392	9	.	.	.	.	17.3872	0.87420	0.0:0.0:1.0:0.0	.	301;301	B4DHG6;Q13634	.;CAD18_HUMAN	D	301;301;301;301;301;301;247;301	ENSP00000371710:A301D;ENSP00000425093:A301D;ENSP00000274170:A301D;ENSP00000424931:A301D;ENSP00000422138:A301D;ENSP00000427383:A247D;ENSP00000425854:A301D	.	A	-	2	0	CDH18	19627020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.428000	0.82296	0.650000	0.86243	GCT	CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.423	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1		0.00	41	0	G	NM_004934		19591263	-1			no_errors	ENST00000274170	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
CDK10	8558	genome.wustl.edu	37	16	89762095	89762095	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:89762095C>A	ENST00000353379.7	+	13	1121	c.1078C>A	c.(1078-1080)Ccc>Acc	p.P360T	CDK10_ENST00000331006.8_Missense_Mutation_p.P313T|CDK10_ENST00000505473.1_Intron	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	360					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCGCTGTAAACCCTGACGGTG	0.677																																																	0													32.0	37.0	35.0					16																	89762095		2192	4297	6489	SO:0001583	missense	0			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.1078C>A	16.37:g.89762095C>A	ENSP00000338673:p.Pro360Thr		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P360T	ENST00000353379.7	37	c.1078	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344723	0.61073	.	.	ENSG00000185324	ENST00000331006;ENST00000353379	T;T	0.71222	-0.55;-0.49	4.93	4.93	0.64822	.	0.179966	0.50627	D	0.000116	T	0.51466	0.1676	N	0.08118	0	0.80722	D	1	B;B	0.30482	0.281;0.275	B;B	0.28305	0.041;0.088	T	0.58814	-0.7570	10	0.87932	D	0	.	13.5877	0.61942	0.1562:0.8438:0.0:0.0	.	360;283	Q15131;Q15131-3	CDK10_HUMAN;.	T	313;360	ENSP00000329957:P313T;ENSP00000338673:P360T	ENSP00000329957:P313T	P	+	1	0	CDK10	88289596	1.000000	0.71417	0.923000	0.36655	0.819000	0.46315	5.178000	0.65037	2.275000	0.75901	0.650000	0.86243	CCC	CDK10	-	NULL	ENSG00000185324		0.677	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	-	0.00	97	0	C			89762095	+1	tier1	-	no_errors	ENST00000353379	ensembl	human	known	74_37	missense	41.44	65	46	SNP	1.000	A
CDKN2A	1029	genome.wustl.edu	37	9	21974744	21974744	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:21974744A>G	ENST00000304494.5	-	1	353	c.83T>C	c.(82-84)gTg>gCg	p.V28A	CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28A|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28A|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.0(1)|p.V28_V51del(1)|p.V28fs*15(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCGCCCGCACCTCCTCTAC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1345	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(278)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM024658	CDKN2A	M							23.0	30.0	28.0					9																	21974744		1949	3939	5888	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.83T>C	9.37:g.21974744A>G	ENSP00000307101:p.Val28Ala		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.V28A	ENST00000304494.5	37	c.83	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409048	0.83340	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.71222	-0.55;-0.55	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.81375	0.4809	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82631	-0.0362	9	0.56958	D	0.05	.	13.8927	0.63750	1.0:0.0:0.0:0.0	.	28;28	P42771;G3XAG3	CD2A1_HUMAN;.	A	28	ENSP00000307101:V28A;ENSP00000394932:V28A	ENSP00000307101:V28A	V	-	2	0	CDKN2A	21964744	0.963000	0.33076	1.000000	0.80357	0.918000	0.54935	4.872000	0.63050	2.165000	0.68154	0.533000	0.62120	GTG	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0.00	23	0	A	NM_000077		21974744	-1			no_errors	ENST00000446177	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	G
CEP290	80184	genome.wustl.edu	37	12	88487680	88487681	+	Frame_Shift_Ins	INS	-	-	T	rs386834154|rs62640570		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:88487680_88487681insT	ENST00000552810.1	-	28	3518_3519	c.3175_3176insA	c.(3175-3177)atafs	p.I1059fs	CEP290_ENST00000547691.2_Frame_Shift_Ins_p.I119fs|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I1061fs|CEP290_ENST00000397838.3_Frame_Shift_Ins_p.I119fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1059					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CAGCATAGTTATTTTTTTTGAA	0.337																																																	0			GRCh37	CD062132|CD073593|CI062250	CEP290	D|I	rs62640570			0,3536		0,0,1768				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.7	1.0		dbSNP_129	59	2,7824		0,2,3911	no	frameshift	CEP290	NM_025114.3		0,2,5679	A1A1,A1R,RR		0.0256,0.0,0.0176				2,11360				SO:0001589	frameshift_variant	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3176dupA	12.37:g.88487688_88487688dupT	ENSP00000448012:p.Ile1059fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	NULL	p.I1061fs	ENST00000552810.1	37	c.3182_3181	CCDS55858.1	12																																																																																			CEP290	-	NULL	ENSG00000198707		0.337	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1		0.00	60	0	-	NM_025114		88487681	-1	tier1		no_errors	ENST00000309041	ensembl	human	known	74_37	frame_shift_ins	5.13	37	2	INS	1.000:1.000	T
CLEC18B	497190	genome.wustl.edu	37	16	74455135	74455136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:74455135_74455136insC	ENST00000339953.5	-	1	154_155	c.33_34insG	c.(31-36)gggcatfs	p.H12fs	RP11-252A24.5_ENST00000567148.1_RNA|RP11-252A24.5_ENST00000566506.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	12						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCAGGAGATGCCCCCGGCCAG	0.678																																																	0																																										SO:0001589	frameshift_variant	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.34dupG	16.37:g.74455140_74455140dupC	ENSP00000341051:p.His12fs		B4DF90	Frame_Shift_Ins	INS	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.H11fs	ENST00000339953.5	37	c.34_33	CCDS32484.1	16																																																																																			CLEC18B	-	NULL	ENSG00000140839		0.678	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1		0.00	166	0	-	NM_001011880		74455136	-1	tier1		no_errors	ENST00000339953	ensembl	human	known	74_37	frame_shift_ins	27.56	92	35	INS	0.004:0.003	C
CLN3	1201	genome.wustl.edu	37	16	28488869	28488869	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:28488869G>A	ENST00000569430.1	-	17	2104	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	CLN3_ENST00000535392.1_Missense_Mutation_p.P351S|CLN3_ENST00000567963.1_Missense_Mutation_p.P332S|CLN3_ENST00000565316.1_Missense_Mutation_p.P412S|CLN3_ENST00000357857.9_Missense_Mutation_p.P375S|CLN3_ENST00000333496.9_Missense_Mutation_p.P405S|CLN3_ENST00000359984.7_Missense_Mutation_p.P429S|CLN3_ENST00000360019.2_Missense_Mutation_p.P429S|CLN3_ENST00000355477.5_Missense_Mutation_p.P381S|CLN3_ENST00000357806.7_Missense_Mutation_p.P330S|CLN3_ENST00000568224.1_Missense_Mutation_p.P351S|CLN3_ENST00000354630.5_Missense_Mutation_p.P412S|CLN3_ENST00000395653.4_Missense_Mutation_p.P329S			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	429					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCATGCAGAGGCAAAGCCAGG	0.612																																																	0													61.0	68.0	66.0					16																	28488869		2197	4300	6497	SO:0001583	missense	0			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1285C>T	16.37:g.28488869G>A	ENSP00000454229:p.Pro429Ser		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	p.P429S	ENST00000569430.1	37	c.1285	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	g	21.7	4.189837	0.78789	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);	0.115010	0.64402	D	0.000013	D	0.97711	0.9249	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.981;1.0;0.986;1.0	D	0.97027	0.9747	10	0.21540	T	0.41	-13.1224	16.1308	0.81436	0.0:0.0:1.0:0.0	.	405;412;327;329;375;381;429;330	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	S	351;429;429;412;381;375;329;330	ENSP00000443221:P351S;ENSP00000353073:P429S;ENSP00000353116:P429S;ENSP00000346650:P412S;ENSP00000347660:P381S;ENSP00000350523:P375S;ENSP00000379014:P329S;ENSP00000350457:P330S	ENSP00000346650:P412S	P	-	1	0	CLN3	28396370	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.058000	0.71126	2.403000	0.81681	0.561000	0.74099	CCT	CLN3	-	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	ENSG00000188603		0.612	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	HGNC	protein_coding	OTTHUMT00000214115.2		0.00	23	0	G			28488869	-1			no_errors	ENST00000359984	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	A
CLSTN2	64084	genome.wustl.edu	37	3	140284997	140284999	+	In_Frame_Del	DEL	GAG	GAG	-	rs375578630|rs10573488	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:140284997_140284999delGAG	ENST00000458420.3	+	17	2960_2962	c.2770_2772delGAG	c.(2770-2772)gagdel	p.E929del		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	929	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGACAGCGAAGAGGAGGAGGAGG	0.591										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0																																										SO:0001651	inframe_deletion	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2770_2772delGAG	3.37:g.140285006_140285008delGAG	ENSP00000402460:p.Glu929del		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	In_Frame_Del	DEL	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E927in_frame_del	ENST00000458420.3	37	c.2770_2772	CCDS3112.1	3																																																																																			CLSTN2	-	NULL	ENSG00000158258		0.591	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3		0.00	52	0	GAG	NM_022131		140284999	+1	tier1		no_errors	ENST00000458420	ensembl	human	known	74_37	in_frame_del	6.06	31	2	DEL	0.989:0.994:0.995	-
COL4A5	1287	genome.wustl.edu	37	X	107924125	107924125	+	Silent	SNP	A	A	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrX:107924125A>G	ENST00000361603.2	+	44	4252	c.4008A>G	c.(4006-4008)ggA>ggG	p.G1336G	COL4A5_ENST00000328300.6_Silent_p.G1342G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1336	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCATGAAAGGACCCAGTGGAG	0.468									Alport syndrome with Diffuse Leiomyomatosis																																								0													137.0	125.0	129.0					X																	107924125		2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4008A>G	X.37:g.107924125A>G			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1342	ENST00000361603.2	37	c.4026	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.468	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0.00	32	0	A			107924125	+1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	silent	9.30	38	4	SNP	1.000	G
COX7A2	1347	genome.wustl.edu	37	6	75953544	75953544	+	5'UTR	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:75953544C>T	ENST00000230459.4	-	0	100				COX7A2_ENST00000460985.1_5'Flank|COX7A2_ENST00000472311.2_5'Flank|COX7A2_ENST00000370089.2_Start_Codon_SNP_p.M1I|COX7A2_ENST00000370081.2_Start_Codon_SNP_p.M1I|COX7A2_ENST00000509698.1_5'Flank	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						CTTGCGTATGCATTCACGAAC	0.527																																																	0													94.0	103.0	100.0					6																	75953544		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.-94G>A	6.37:g.75953544C>T			B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	p.M1I	ENST00000230459.4	37	c.3		6	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086471	0.36855	.	.	ENSG00000112695	ENST00000370081;ENST00000370089	T;T	0.42131	0.98;0.98	4.62	2.78	0.32641	.	0.492896	0.15189	N	0.275696	T	0.24353	0.0590	.	.	.	0.26853	N	0.968124	.	.	.	.	.	.	T	0.16719	-1.0393	7	0.87932	D	0	.	6.2052	0.20598	0.1837:0.7175:0.0:0.0988	.	.	.	.	I	1	ENSP00000359098:M1I;ENSP00000359106:M1I	ENSP00000359098:M1I	M	-	3	0	COX7A2	76010264	.	.	0.025000	0.17156	0.036000	0.12997	.	.	0.600000	0.29862	0.561000	0.74099	ATG	COX7A2	-	NULL	ENSG00000112695		0.527	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	COX7A2	HGNC	protein_coding		-	0.00	61	0	C	NM_001865		75953544	-1	tier1	-	no_errors	ENST00000370081	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.079	T
CSF1R	1436	genome.wustl.edu	37	5	149459879	149459879	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:149459879C>T	ENST00000286301.3	-	4	619	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	CSF1R_ENST00000543093.1_Missense_Mutation_p.V110M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	110	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGTGCTAGCACGTTCCAGGGC	0.617																																																	0													42.0	40.0	40.0					5																	149459879		2203	4300	6503	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.328G>A	5.37:g.149459879C>T	ENSP00000286301:p.Val110Met		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V110M	ENST00000286301.3	37	c.328	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881625	0.33255	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.78126	-1.15;1.2	4.92	-5.39	0.02664	Immunoglobulin-like fold (1);	1.066390	0.07412	N	0.892472	T	0.76140	0.3946	L	0.60455	1.87	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.982	P;P;P	0.56648	0.685;0.803;0.509	T	0.66316	-0.5954	10	0.34782	T	0.22	.	2.8207	0.05470	0.3369:0.2162:0.3544:0.0926	.	110;110;110	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	M	110	ENSP00000286301:V110M;ENSP00000445282:V110M	ENSP00000286301:V110M	V	-	1	0	CSF1R	149440072	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.002000	0.03686	-1.746000	0.01335	-0.314000	0.08810	GTG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	-	0.00	17	0	C	NM_005211		149459879	-1	tier1	-	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.000	T
CSF3	1440	genome.wustl.edu	37	17	38173192	38173193	+	Frame_Shift_Del	DEL	CG	CG	-	rs145311241|rs547038752	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:38173192_38173193delCG	ENST00000225474.2	+	5	635_636	c.604_605delCG	c.(604-606)cgcfs	p.R202fs	CSF3_ENST00000577675.1_Frame_Shift_Del_p.R159fs|CSF3_ENST00000331769.2_Frame_Shift_Del_p.R195fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.R166fs|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394149.3_Frame_Shift_Del_p.R199fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	202					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CCGCGTTCTACGCCACCTTGCC	0.54																																																	0																																										SO:0001589	frameshift_variant	0				CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	2438	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.604_605delCG	17.37:g.38173192_38173193delCG	ENSP00000225474:p.Arg202fs		A8MXR7	Frame_Shift_Del	DEL	pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF	p.R202fs	ENST00000225474.2	37	c.604_605	CCDS11357.1	17																																																																																			CSF3	-	pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF	ENSG00000108342		0.540	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSF3	HGNC	protein_coding	OTTHUMT00000256988.2		0.00	49	0	CG	NM_172220		38173193	+1	tier1		no_errors	ENST00000225474	ensembl	human	known	74_37	frame_shift_del	17.25	403	84	DEL	0.998:0.993	-
CSMD2	114784	genome.wustl.edu	37	1	34080136	34080136	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:34080136C>A	ENST00000373380.1	-	19	2940	c.2720G>T	c.(2719-2721)tGc>tTc	p.C907F	CSMD2_ENST00000373377.1_Missense_Mutation_p.C133F|CSMD2_ENST00000373388.2_Missense_Mutation_p.C133F|CSMD2_ENST00000373381.4_Missense_Mutation_p.C2034F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1994	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTCCAGGAGCAGTCCATGTT	0.567																																																	0													92.0	84.0	87.0					1																	34080136		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2720G>T	1.37:g.34080136C>A	ENSP00000362478:p.Cys907Phe		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.C2034F	ENST00000373380.1	37	c.6101		1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798475	0.90538	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.47	5.47	0.80525	CUB (5);	0.112377	0.64402	D	0.000007	D	0.87030	0.6076	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	0.966;0.984;1.0	D;D;D	0.97110	0.921;0.969;1.0	D	0.91030	0.4863	10	0.59425	D	0.04	.	18.323	0.90244	0.0:1.0:0.0:0.0	.	907;1994;2034	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	F	2034;907;133;133	ENSP00000362479:C2034F;ENSP00000362478:C907F;ENSP00000362475:C133F;ENSP00000362486:C133F	ENSP00000241312:C1994F	C	-	2	0	CSMD2	33852723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.570000	0.86706	0.655000	0.94253	TGC	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.567	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	-	0.00	64	0	C	NM_052896		34080136	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	50.98	25	26	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113256779	113256779	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:113256779T>G	ENST00000297405.5	-	65	10490	c.10246A>C	c.(10246-10248)Act>Cct	p.T3416P	CSMD3_ENST00000455883.2_Missense_Mutation_p.T3247P|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3346P|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3376P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3416	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGCAGGAGTTTCTGGCTGT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													113.0	100.0	104.0					8																	113256779		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10246A>C	8.37:g.113256779T>G	ENSP00000297405:p.Thr3416Pro		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T3416P	ENST00000297405.5	37	c.10246	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885774	0.33255	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.17	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (3);	0.345250	0.26311	N	0.025106	T	0.59473	0.2196	N	0.17800	0.525	0.30448	N	0.775504	B;B;D	0.56746	0.429;0.269;0.977	B;B;P	0.60012	0.322;0.383;0.867	T	0.58999	-0.7536	10	0.34782	T	0.22	.	9.3456	0.38107	0.2714:0.0:0.0:0.7285	.	3247;3416;3376	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	3376;3416;2686;3247;3346	ENSP00000345799:T3376P;ENSP00000297405:T3416P;ENSP00000341558:T2686P;ENSP00000412263:T3247P;ENSP00000343124:T3346P	ENSP00000297405:T3416P	T	-	1	0	CSMD3	113325955	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	3.187000	0.50950	2.170000	0.68504	0.482000	0.46254	ACT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	59	0	T	NM_052900		113256779	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	G
CWC22	57703	genome.wustl.edu	37	2	180851528	180851528	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:180851528C>T	ENST00000410053.3	-	4	399	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	CWC22_ENST00000295749.6_Missense_Mutation_p.E34K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	34	Arg-rich.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTGTTCTTCATATCTAACA	0.328																																																	0													50.0	45.0	46.0					2																	180851528		1795	4078	5873	SO:0001583	missense	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.100G>A	2.37:g.180851528C>T	ENSP00000387006:p.Glu34Lys		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.E34K	ENST00000410053.3	37	c.100	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158638	0.01686	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.29917	1.55;1.55;1.55	6.06	1.16	0.20824	.	0.974819	0.08494	N	0.937508	T	0.15955	0.0384	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.31696	-0.9934	10	0.07482	T	0.82	-0.1826	9.1972	0.37235	0.0:0.5216:0.0:0.4784	.	34	Q9HCG8	CWC22_HUMAN	K	34	ENSP00000387006:E34K;ENSP00000295749:E34K;ENSP00000384159:E34K	ENSP00000295749:E34K	E	-	1	0	CWC22	180559773	0.577000	0.26708	0.436000	0.26797	0.039000	0.13416	-0.198000	0.09505	-0.062000	0.13088	-0.136000	0.14681	GAA	CWC22	-	NULL	ENSG00000163510		0.328	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	-	0.00	40	0	C	NM_020943		180851528	-1	tier1	-	no_errors	ENST00000295749	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.160	T
CYB5D1	124637	genome.wustl.edu	37	17	7762921	7762921	+	Silent	SNP	G	G	T	rs372408463		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:7762921G>T	ENST00000332439.4	+	4	830	c.678G>T	c.(676-678)acG>acT	p.T226T	LSMD1_ENST00000575071.1_5'Flank|CYB5D1_ENST00000571846.1_3'UTR|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Silent_p.T98T|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576384.1_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	226							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				ATGATCTCACGGAGTTGTAGG	0.478																																																	0													142.0	121.0	128.0					17																	7762921		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.678G>T	17.37:g.7762921G>T			D3DTQ8|Q96DM7	Silent	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd	p.T226	ENST00000332439.4	37	c.678	CCDS11123.1	17																																																																																			CYB5D1	-	NULL	ENSG00000182224		0.478	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5D1	HGNC	protein_coding	OTTHUMT00000440841.1	-	0.00	40	0	G	NM_144607		7762921	+1	tier1	-	no_errors	ENST00000332439	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.544	T
DAK	26007	genome.wustl.edu	37	11	61105513	61105513	+	Missense_Mutation	SNP	G	G	A	rs150633640	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:61105513G>A	ENST00000394900.3	+	3	333	c.104G>A	c.(103-105)cGc>cAc	p.R35H	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	35	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.R35H(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGGGCCACCGCGTGGCCCTC	0.657																																																	1	Substitution - Missense(1)	lung(1)											48.0	50.0	49.0					11																	61105513		2203	4298	6501	SO:0001583	missense	0				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.104G>A	11.37:g.61105513G>A	ENSP00000378360:p.Arg35His		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP	p.R35H	ENST00000394900.3	37	c.104	CCDS8003.1	11	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911553	0.92178	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000524968;ENST00000529479	T;T;T	0.34472	1.36;1.36;1.36	5.8	5.8	0.92144	Dak kinase (2);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	L	0.41415	1.275	0.58432	D	0.999996	P	0.46395	0.877	P	0.51777	0.679	T	0.38222	-0.9671	10	0.87932	D	0	-13.4228	19.7185	0.96132	0.0:0.0:1.0:0.0	.	35	Q3LXA3	DHAK_HUMAN	H	35;35;35;34	ENSP00000378360:R35H;ENSP00000431844:R35H;ENSP00000432539:R34H	ENSP00000378360:R35H	R	+	2	0	DAK	60862089	1.000000	0.71417	0.963000	0.40424	0.481000	0.33189	7.448000	0.80631	2.764000	0.94973	0.555000	0.69702	CGC	DAK	-	pfam_Dak1,tigrfam_DhaK_ATP	ENSG00000149476		0.657	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	HGNC	protein_coding	OTTHUMT00000394425.4		0.00	18	0	G	NM_015533		61105513	+1			no_errors	ENST00000394900	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A
DDX60	55601	genome.wustl.edu	37	4	169229302	169229302	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:169229302delA	ENST00000393743.3	-	4	410	c.119delT	c.(118-120)ttgfs	p.L40fs	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	40					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCCATCAATCAAAAAAAATTC	0.308																																																	0													47.0	49.0	48.0					4																	169229302		2203	4300	6503	SO:0001589	frameshift_variant	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.119delT	4.37:g.169229302delA	ENSP00000377344:p.Leu40fs		Q6PK35|Q9NVE3	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L40fs	ENST00000393743.3	37	c.119	CCDS34097.1	4																																																																																			DDX60	-	NULL	ENSG00000137628		0.308	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1		0.00	60	0	A	NM_017631		169229302	-1	tier1		no_errors	ENST00000393743	ensembl	human	known	74_37	frame_shift_del	9.30	39	4	DEL	0.999	-
DNM1P47	100216544	genome.wustl.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1		0.00	48	0	T	NG_009149		102304772	+1			no_errors	ENST00000561463	ensembl	human	known	74_37	rna	8.70	42	4	SNP	0.984	C
DOCK4	9732	genome.wustl.edu	37	7	111381677	111381677	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:111381677G>T	ENST00000437633.1	-	45	5067	c.4811C>A	c.(4810-4812)cCt>cAt	p.P1604H	DOCK4_ENST00000428084.1_Missense_Mutation_p.P1613H|DOCK4_ENST00000494651.2_Missense_Mutation_p.P487H	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1604					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTTCCATTAGGAAAATGGAC	0.418																																																	0													64.0	61.0	62.0					7																	111381677		1886	4121	6007	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4811C>A	7.37:g.111381677G>T	ENSP00000404179:p.Pro1604His		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.P1613H	ENST00000437633.1	37	c.4838	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.962079|3.962079	0.74016|0.74016	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.06528	.|4.04;3.29;4.04	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.160011	.|0.56097	.|D	.|0.000028	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.08118|0.08118	0|0	0.40796|0.40796	D|D	0.983299|0.983299	.|P;P;P;P;P	.|0.47762	.|0.694;0.824;0.9;0.747;0.836	.|B;P;P;B;P	.|0.52267	.|0.396;0.694;0.497;0.401;0.605	T|T	0.46148|0.46148	-0.9212|-0.9212	5|10	.|0.44086	.|T	.|0.13	.|.	12.326|12.326	0.55011|0.55011	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	.|511;487;1649;1604;1613	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	I|H	1065;1637|1592;1613;487;1604;1601	.|ENSP00000410746:P1613H;ENSP00000440944:P487H;ENSP00000404179:P1604H	.|ENSP00000345432:P1601H	L|P	-|-	1|2	2|0	DOCK4|DOCK4	111168913|111168913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.993000|4.993000	0.63895|0.63895	2.709000|2.709000	0.92574|0.92574	0.650000|0.650000	0.86243|0.86243	CTA|CCT	DOCK4	-	NULL	ENSG00000128512		0.418	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0.00	27	0	G	NM_014705		111381677	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56420335	56420335	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:56420335C>T	ENST00000361203.3	-	56	14318	c.14311G>A	c.(14311-14313)Gct>Act	p.A4771T	DST_ENST00000244364.6_Missense_Mutation_p.A2359T|DST_ENST00000370769.4_Missense_Mutation_p.A4773T|DST_ENST00000421834.2_Missense_Mutation_p.A2685T|DST_ENST00000370754.5_Missense_Mutation_p.A4951T|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.A2685T|DST_ENST00000446842.2_Missense_Mutation_p.A4447T			Q03001	DYST_HUMAN	dystonin	4771					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGTTCATAGCATCAGGGTGC	0.463																																																	0													127.0	124.0	125.0					6																	56420335		1913	4142	6055	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14311G>A	6.37:g.56420335C>T	ENSP00000354508:p.Ala4771Thr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A4951T	ENST00000361203.3	37	c.14851		6	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705418	0.68615	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.48522	1.06;1.36;1.36;1.36;0.81;1.36;1.36	5.96	5.96	0.96718	.	0.000000	0.53938	D	0.000046	T	0.61689	0.2367	M	0.73962	2.25	0.26641	N	0.972287	D;D;D;P;D	0.89917	0.998;1.0;1.0;0.914;0.999	D;D;D;B;D	0.85130	0.992;0.99;0.997;0.355;0.979	T	0.52660	-0.8546	9	0.15066	T	0.55	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2685;4773;4951;4771;2359	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	2359;4951;4773;2685;4447;2685;4771	ENSP00000244364:A2359T;ENSP00000359790:A4951T;ENSP00000359805:A4773T;ENSP00000400883:A2685T;ENSP00000393645:A4447T;ENSP00000359824:A2685T;ENSP00000354508:A4771T	ENSP00000244364:A2359T	A	-	1	0	DST	56528294	1.000000	0.71417	0.123000	0.21794	0.469000	0.32828	7.792000	0.85828	2.823000	0.97156	0.650000	0.86243	GCT	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.463	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0.00	36	0	C	NM_001723		56420335	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
DUOX2	50506	genome.wustl.edu	37	15	45391892	45391892	+	Missense_Mutation	SNP	C	C	T	rs374614801	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:45391892C>T	ENST00000603300.1	-	25	3585	c.3383G>A	c.(3382-3384)cGc>cAc	p.R1128H	DUOX2_ENST00000389039.6_Missense_Mutation_p.R1128H	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1128	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGCGATCCAGCGGTGGAAGTC	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		21459	0.002		0.0	False		,,,				2504	0.0																0													96.0	86.0	90.0					15																	45391892		2198	4298	6496	SO:0001583	missense	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3383G>A	15.37:g.45391892C>T	ENSP00000475084:p.Arg1128His		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.R1128H	ENST00000603300.1	37	c.3383	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910490	0.92107	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.58	5.58	0.84498	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.86755	0.1963	9	0.87932	D	0	-21.5728	18.5619	0.91102	0.0:1.0:0.0:0.0	.	1128	Q9NRD8	DUOX2_HUMAN	H	1128	.	ENSP00000373691:R1128H	R	-	2	0	DUOX2	43179184	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.057000	0.71119	2.647000	0.89833	0.467000	0.42956	CGC	DUOX2	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000140279		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		-	0.00	41	0	C	NM_014080		45391892	-1	tier1	-	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
DUSP10	11221	genome.wustl.edu	37	1	221875156	221875157	+	3'UTR	INS	-	-	A	rs571834010		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:221875156_221875157insA	ENST00000366899.3	-	0	2284_2285				DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CCCAGAGAAGGAAAAAAAAAAA	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*598->T	1.37:g.221875167_221875167dupA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	INS	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.351	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	21	0	-	NM_007207		221875157	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	9.09	20	2	INS	0.002:0.000	A
DUSP12	11266	genome.wustl.edu	37	1	161719712	161719712	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:161719712G>A	ENST00000367943.4	+	1	153	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	41					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGGGGCCGCGGCCGTCGCGGA	0.662																																																	0													25.0	28.0	27.0					1																	161719712		2203	4300	6503	SO:0001583	missense	0			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.121G>A	1.37:g.161719712G>A	ENSP00000356920:p.Ala41Thr		Q5VXA8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.A41T	ENST00000367943.4	37	c.121	CCDS1234.1	1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594010	0.46214	.	.	ENSG00000081721	ENST00000367943	D	0.85258	-1.96	4.72	3.79	0.43588	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.176849	0.47093	D	0.000250	T	0.70657	0.3249	L	0.58810	1.83	0.34565	D	0.712853	B	0.29212	0.237	B	0.34590	0.186	T	0.63642	-0.6591	10	0.13853	T	0.58	.	10.6266	0.45510	0.0:0.1941:0.8059:0.0	.	41	Q9UNI6	DUS12_HUMAN	T	41	ENSP00000356920:A41T	ENSP00000356920:A41T	A	+	1	0	DUSP12	159986336	0.914000	0.31030	0.995000	0.50966	0.691000	0.40173	0.948000	0.29096	1.167000	0.42706	0.563000	0.77884	GCC	DUSP12	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000081721		0.662	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	HGNC	protein_coding	OTTHUMT00000083588.1	-	0.00	61	0	G	NM_007240		161719712	+1	tier1	-	no_errors	ENST00000367943	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.988	A
EFR3B	22979	genome.wustl.edu	37	2	25358396	25358396	+	Missense_Mutation	SNP	C	C	T	rs187995146		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:25358396C>T	ENST00000403714.3	+	13	1555	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	EFR3B_ENST00000405108.1_Missense_Mutation_p.R310C|EFR3B_ENST00000401432.3_Missense_Mutation_p.R458C|EFR3B_ENST00000402191.1_Missense_Mutation_p.R423C	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	458										endometrium(1)	1						CTTCCTGGACCGCCTTCTCTC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		25682	0.001		0.0	False		,,,				2504	0.0																0													124.0	105.0	111.0					2																	25358396		692	1591	2283	SO:0001583	missense	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.1372C>T	2.37:g.25358396C>T	ENSP00000384081:p.Arg458Cys		B7WPL8|Q86XU6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R458C	ENST00000403714.3	37	c.1372	CCDS46231.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.7	4.034772	0.75617	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000405108;ENST00000264719	T;T;T;T;T	0.66638	-0.12;-0.12;-0.22;3.52;3.53	4.46	4.46	0.54185	Armadillo-type fold (1);	0.067156	0.56097	D	0.000026	T	0.55909	0.1950	N	0.22421	0.69	0.53005	D	0.999969	D;D	0.57571	0.963;0.98	B;P	0.45946	0.431;0.498	T	0.62544	-0.6832	10	0.72032	D	0.01	-18.207	11.8467	0.52389	0.1756:0.8244:0.0:0.0	.	458;458	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	C	458;458;423;423;310;337	ENSP00000386082:R458C;ENSP00000384081:R458C;ENSP00000385832:R423C;ENSP00000384454:R310C;ENSP00000264719:R337C	ENSP00000264719:R337C	R	+	1	0	EFR3B	25211900	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.799000	0.55529	2.307000	0.77673	0.563000	0.77884	CGC	EFR3B	-	superfamily_ARM-type_fold	ENSG00000084710		0.502	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1		0.00	36	0	C	NM_014971		25358396	+1			no_errors	ENST00000403714	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
EHMT1	79813	genome.wustl.edu	37	9	140710455	140710455	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:140710455C>T	ENST00000460843.1	+	23	3342	c.3315C>T	c.(3313-3315)tgC>tgT	p.C1105C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1105	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCTTCGAATGCAACCACGCGT	0.592																																																	0													63.0	54.0	57.0					9																	140710455		2203	4300	6503	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3315C>T	9.37:g.140710455C>T			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.C1105	ENST00000460843.1	37	c.3315	CCDS7050.2	9																																																																																			EHMT1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom	ENSG00000181090		0.592	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2		0.00	51	0	C	NM_024757		140710455	+1			no_errors	ENST00000460843	ensembl	human	known	74_37	silent	6.02	77	5	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	GL000212.1	65028	65028	+	IGR	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrGL000212.1:65028G>A								None (None upstream) : None (None downstream)																							CGCCAATGACGCCACCCAGGG	0.701																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65028G>A				Silent	SNP	NULL	p.T259		37	c.777		GL000212.1																																																																																			AL356585.1	-	NULL	ENSG00000212857	0	0.701					ENSG00000212857	Clone_based_ensembl_gene			-	0.00	73	0	G			65028	+1	tier1	-	no_errors	ENST00000391545	ensembl	human	known	74_37	silent	41.51	30	22	SNP	NULL	A
RP11-782C8.2	0	genome.wustl.edu	37	1	143189125	143189125	+	lincRNA	SNP	G	G	A	rs201126579		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:143189125G>A	ENST00000412204.2	-	0	2503				RP11-782C8.3_ENST00000425124.1_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA																							TGATGACTTGGTTGTTTAAAC	0.333																																																	0																																												0																															1.37:g.143189125G>A				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.333	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	-	0.00	14	0	G			143189125	-1	tier1	rs201126579	no_errors	ENST00000447389	ensembl	human	known	74_37	rna	30.00	14	6	SNP	0.014	A
CTD-2026G22.1	0	genome.wustl.edu	37	11	49401015	49401015	+	RNA	SNP	T	T	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:49401015T>A	ENST00000529081.1	+	0	372																											GGGACGAGATTTGAATACAAT	0.383																																																	0																																												0																															11.37:g.49401015T>A				RNA	SNP	-	NULL	ENST00000529081.1	37	NULL		11																																																																																			CTD-2026G22.1	-	-	ENSG00000255532		0.383	CTD-2026G22.1-002	KNOWN	basic	processed_transcript	ENSG00000255532	Clone_based_vega_gene	pseudogene	OTTHUMT00000391375.1	-	0.00	73	0	T			49401015	+1	tier1	-	no_errors	ENST00000529081	ensembl	human	known	74_37	rna	5.19	73	4	SNP	1.000	A
NCAPGP2	100421148	genome.wustl.edu	37	15	30297722	30297722	+	lincRNA	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:30297722G>A	ENST00000561392.1	-	0	408																											GAGGCTGTCAGAAAGCTGGCT	0.433																																																	0																																												0																															15.37:g.30297722G>A				RNA	SNP	-	NULL	ENST00000561392.1	37	NULL		15																																																																																			RP11-143J24.1	-	-	ENSG00000259647		0.433	RP11-143J24.1-001	KNOWN	basic	lincRNA	ENSG00000259647	Clone_based_vega_gene	lincRNA	OTTHUMT00000417288.1	-	0.00	34	0	G			30297722	-1	tier1	-	no_errors	ENST00000561392	ensembl	human	known	74_37	rna	25.00	12	4	SNP	1.000	A
EPS8L3	79574	genome.wustl.edu	37	1	110294817	110294817	+	Splice_Site	SNP	T	T	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:110294817T>G	ENST00000361965.4	-	15	1342		c.e15-2		RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000369805.3_Splice_Site	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3							cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTTCCCCGCCTAAGAAACAGA	0.562																																																	0													81.0	91.0	87.0					1																	110294817		2203	4300	6503	SO:0001630	splice_region_variant	0			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1236-2A>C	1.37:g.110294817T>G			A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Splice_Site	SNP	-	e14-2	ENST00000361965.4	37	c.1239-2	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	T	0.219	-1.030334	0.02045	.	.	ENSG00000198758	ENST00000369805;ENST00000361965	.	.	.	3.92	-7.73	0.01245	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1035	0.01689	0.3266:0.3197:0.2053:0.1484	.	.	.	.	.	-1	.	.	.	-	.	.	EPS8L3	110096340	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.602000	0.05680	-1.618000	0.01568	0.533000	0.62120	.	EPS8L3	-	-	ENSG00000198758		0.562	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	-	0.00	68	0	T	NM_024526	Intron	110294817	-1	tier1	-	no_errors	ENST00000369805	ensembl	human	known	74_37	splice_site	10.00	45	5	SNP	0.000	G
EXOC6	54536	genome.wustl.edu	37	10	94714402	94714402	+	Silent	SNP	C	C	T	rs146699258		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:94714402C>T	ENST00000260762.6	+	16	1556	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D	EXOC6_ENST00000371552.4_Silent_p.D509D|EXOC6_ENST00000443748.2_Silent_p.D411D|EXOC6_ENST00000371547.4_Silent_p.D530D	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	514					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CAGAAATAGACGATATGCTTA	0.299													C|||	1	0.000199681	0.0	0.0	5008	,	,		14631	0.0		0.001	False		,,,				2504	0.0																0								C	,	0,4406		0,0,2203	68.0	72.0	71.0		1527,1542	-2.4	1.0	10	dbSNP_134	71	5,8589	4.3+/-15.6	0,5,4292	yes	coding-synonymous,coding-synonymous	EXOC6	NM_001013848.2,NM_019053.4	,	0,5,6495	TT,TC,CC		0.0582,0.0,0.0385	,	509/800,514/805	94714402	5,12995	2203	4297	6500	SO:0001819	synonymous_variant	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1542C>T	10.37:g.94714402C>T			E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.D530	ENST00000260762.6	37	c.1590	CCDS7424.2	10																																																																																			EXOC6	-	pfam_Sec15,pirsf_Sec15	ENSG00000138190		0.299	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	-	0.00	77	0	C	NM_019053		94714402	+1	tier1	rs146699258	no_errors	ENST00000371547	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.997	T
EXOSC2	23404	genome.wustl.edu	37	9	133574844	133574844	+	Intron	SNP	C	C	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:133574844C>G	ENST00000372358.5	+	5	497				EXOSC2_ENST00000546165.1_Intron|EXOSC2_ENST00000372351.3_Intron|EXOSC2_ENST00000372352.3_Intron			Q13868	EXOS2_HUMAN	exosome component 2						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		AATGGGCCTTCCATTGTATGT	0.498																																					Pancreas(134;1683 1824 10118 27928 31640)												0													203.0	170.0	180.0					9																	133574844		692	1591	2283	SO:0001627	intron_variant	0			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.426+63C>G	9.37:g.133574844C>G			A3KFL3|B4DKK6|Q9NUY4	RNA	SNP	-	NULL	ENST00000372358.5	37	NULL	CCDS6935.1	9																																																																																			EXOSC2	-	-	ENSG00000130713		0.498	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC2	HGNC	protein_coding	OTTHUMT00000054673.1	-	0.00	31	0	C	NM_014285		133574844	+1	tier1	-	no_errors	ENST00000463488	ensembl	human	known	74_37	rna	73.68	10	28	SNP	0.000	G
FAM124A	220108	genome.wustl.edu	37	13	51854620	51854620	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr13:51854620G>A	ENST00000322475.8	+	4	1004	c.869G>A	c.(868-870)gGc>gAc	p.G290D	FAM124A_ENST00000280057.6_Missense_Mutation_p.G326D	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	290										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCTAAACCTGGCAGAGTACAT	0.522																																																	0													95.0	83.0	87.0					13																	51854620		2203	4300	6503	SO:0001583	missense	0			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.869G>A	13.37:g.51854620G>A	ENSP00000324625:p.Gly290Asp		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.G326D	ENST00000322475.8	37	c.977	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302025	0.23736	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.42513	0.98;0.97	5.12	2.26	0.28386	.	1.264760	0.05364	N	0.534187	T	0.27205	0.0667	N	0.22421	0.69	0.09310	N	1	B;B	0.33583	0.418;0.218	B;B	0.28139	0.053;0.086	T	0.22836	-1.0205	10	0.44086	T	0.13	-19.7662	4.6532	0.12605	0.2692:0.0:0.5757:0.1551	.	290;326	Q86V42;Q86V42-2	F124A_HUMAN;.	D	290;326	ENSP00000324625:G290D;ENSP00000280057:G326D	ENSP00000280057:G326D	G	+	2	0	FAM124A	50752621	0.745000	0.28261	0.002000	0.10522	0.006000	0.05464	0.968000	0.29357	0.545000	0.28902	0.655000	0.94253	GGC	FAM124A	-	NULL	ENSG00000150510		0.522	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	-	0.00	39	0	G	NM_145019		51854620	+1	tier1	-	no_errors	ENST00000280057	ensembl	human	known	74_37	missense	23.66	71	22	SNP	0.000	A
FAT3	120114	genome.wustl.edu	37	11	92568181	92568181	+	Silent	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:92568181C>A	ENST00000298047.6	+	14	10034	c.10017C>A	c.(10015-10017)ccC>ccA	p.P3339P	FAT3_ENST00000525166.1_Silent_p.P3189P|FAT3_ENST00000409404.2_Silent_p.P3339P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3339	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAACCCTCCCAAGTTCAGCC	0.527										TCGA Ovarian(4;0.039)																																							0													54.0	55.0	55.0					11																	92568181		1961	4164	6125	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10017C>A	11.37:g.92568181C>A			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P3339	ENST00000298047.6	37	c.10017		11																																																																																			FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.527	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	50	0	C	NM_001008781		92568181	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	29.55	31	13	SNP	0.007	A
FBXL16	146330	genome.wustl.edu	37	16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:747263_747265delTGG	ENST00000397621.1	-	2	472_474	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_In_Frame_Del_p.47_48CQ>W	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729																																																	0																																										SO:0001651	inframe_deletion	0			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.141_143delCCA	16.37:g.747263_747265delTGG	ENSP00000380746:p.Cys47_Gln48delinsTrp		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	In_Frame_Del	DEL	superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.CQ47in_frame_delW	ENST00000397621.1	37	c.143_141	CCDS10421.1	16																																																																																			FBXL16	-	NULL	ENSG00000127585		0.729	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2		0.00	8	0	TGG	NM_153350		747265	-1	tier1		no_errors	ENST00000324361	ensembl	human	known	74_37	in_frame_del	60.00	2	3	DEL	1.000:1.000:1.000	-
FCRL4	83417	genome.wustl.edu	37	1	157545291	157545291	+	3'UTR	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:157545291C>T	ENST00000271532.1	-	0	1706				FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ATGAGTAGGACGTTCTCGTAA	0.453																																																	0													112.0	104.0	107.0					1																	157545291		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.*23G>A	1.37:g.157545291C>T			Q96PJ3|Q96RE0	RNA	SNP	-	NULL	ENST00000271532.1	37	NULL	CCDS1166.1	1																																																																																			FCRL4	-	-	ENSG00000163518		0.453	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	-	0.00	29	0	C	NM_031282		157545291	-1	tier1	-	no_errors	ENST00000448509	ensembl	human	known	74_37	rna	30.43	16	7	SNP	0.004	T
FOXI3	344167	genome.wustl.edu	37	2	88751690	88751690	+	RNA	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:88751690G>A	ENST00000398142.3	-	0	441							A8MTJ6	FOXI3_HUMAN	forkhead box I3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)	2						ccccgcgggcgcggcgggcga	0.771																																					Pancreas(81;472 1448 16397 17495 22123)												0													2.0	2.0	2.0					2																	88751690		498	1176	1674			0			BN001221, BN001222		2p11.2	2008-12-18				ENSG00000214336			35123	protein-coding gene	gene with protein product		612351				18787161	Standard	NM_001135649		Approved		uc010ytq.1	A8MTJ6			2.37:g.88751690G>A			B5RI09	RNA	SNP	-	NULL	ENST00000398142.3	37	NULL		2																																																																																			FOXI3	-	-	ENSG00000214336		0.771	FOXI3-001	KNOWN	sequence_error|basic	processed_transcript	FOXI3	HGNC	processed_transcript	OTTHUMT00000338241.2		0.00	18	0	G	NM_001135649		88751690	-1			no_errors	ENST00000398142	ensembl	human	known	74_37	rna	12.50	35	5	SNP	0.000	A
FPR1	2357	genome.wustl.edu	37	19	52249969	52249969	+	Silent	SNP	G	G	A	rs374349320		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:52249969G>A	ENST00000595042.1	-	3	420	c.279C>T	c.(277-279)ttC>ttT	p.F93F	FPR1_ENST00000304748.4_Silent_p.F93F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	93					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGAACCAGCCGAAAGGCCAAT	0.522																																																	0													136.0	105.0	116.0					19																	52249969		2203	4300	6503	SO:0001819	synonymous_variant	0			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.279C>T	19.37:g.52249969G>A			Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.F93	ENST00000595042.1	37	c.279	CCDS12839.1	19																																																																																			FPR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171051		0.522	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	HGNC	protein_coding	OTTHUMT00000466905.1	-	0.00	75	0	G	NM_002029		52249969	-1	tier1	-	no_errors	ENST00000304748	ensembl	human	known	74_37	silent	44.93	38	31	SNP	0.889	A
FRMD5	84978	genome.wustl.edu	37	15	44184264	44184264	+	Missense_Mutation	SNP	C	C	T	rs371288449		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:44184264C>T	ENST00000417257.1	-	8	819	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	FRMD5_ENST00000402883.1_Missense_Mutation_p.V215M|FRMD5_ENST00000484674.1_Missense_Mutation_p.V126M	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	215	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTTCCTGACACGTCCTGCAAC	0.453																																																	0								C	MET/VAL	0,4396		0,0,2198	142.0	113.0	122.0		643	4.6	1.0	15		122	1,8595	1.2+/-3.3	0,1,4297	no	missense	FRMD5	NM_032892.3	21	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	215/571	44184264	1,12991	2198	4298	6496	SO:0001583	missense	0			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.643G>A	15.37:g.44184264C>T	ENSP00000403067:p.Val215Met		Q8NBG4	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V215M	ENST00000417257.1	37	c.643	CCDS10107.2	15	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550701	0.65311	0.0	1.16E-4	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.82081	-1.57;-1.57;-1.57	4.61	4.61	0.57282	FERM domain (1);Pleckstrin homology-type (1);	0.064275	0.64402	D	0.000008	D	0.84759	0.5543	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72625	0.978;0.966	D	0.85164	0.0994	10	0.42905	T	0.14	.	16.5288	0.84352	0.0:1.0:0.0:0.0	.	215;215	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	M	215;215;181	ENSP00000403067:V215M;ENSP00000384142:V215M;ENSP00000399684:V181M	ENSP00000384142:V215M	V	-	1	0	FRMD5	41971556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.976000	0.76135	2.551000	0.86045	0.557000	0.71058	GTG	FRMD5	-	pfscan_FERM_domain	ENSG00000171877		0.453	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	-	0.00	16	0	C	NM_032892		44184264	-1	tier1	-	no_errors	ENST00000417257	ensembl	human	known	74_37	missense	55.56	4	5	SNP	1.000	T
FUT1	2523	genome.wustl.edu	37	19	49254520	49254520	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:49254520G>A	ENST00000310160.3	-	4	993	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	7					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CAGAGCTGACGATGGCTCCGG	0.567																																																	0													49.0	44.0	46.0					19																	49254520		2203	4300	6503	SO:0001583	missense	0				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.19C>T	19.37:g.49254520G>A	ENSP00000312021:p.Arg7Cys		O14505|O14506|O14507	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.R7C	ENST00000310160.3	37	c.19	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279540	0.59758	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	T	0.74209	-0.82	5.06	3.95	0.45737	.	1.021960	0.07842	N	0.963193	T	0.78375	0.4273	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	P	0.61592	0.891	T	0.64786	-0.6325	10	0.87932	D	0	-4.1901	10.369	0.44042	0.0:0.0:0.7315:0.2685	.	7	P19526	FUT1_HUMAN	C	7	ENSP00000312021:R7C	ENSP00000312021:R7C	R	-	1	0	FUT1	53946332	0.003000	0.15002	0.001000	0.08648	0.111000	0.19643	1.336000	0.33850	1.064000	0.40671	0.655000	0.94253	CGT	FUT1	-	NULL	ENSG00000174951		0.567	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	HGNC	protein_coding	OTTHUMT00000466194.1		0.00	28	0	G	NM_000148		49254520	-1			no_errors	ENST00000310160	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.003	A
GABRB3	2562	genome.wustl.edu	37	15	26866507	26866507	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:26866507G>A	ENST00000311550.5	-	4	526	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	GABRB3_ENST00000541819.2_Missense_Mutation_p.R195C|GABRB3_ENST00000400188.3_Missense_Mutation_p.R68C|GABRB3_ENST00000545868.1_Missense_Mutation_p.R54C|GABRB3_ENST00000299267.4_Missense_Mutation_p.R139C	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	139					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGGATCATGCGGTTTTTCACT	0.493																																																	0													159.0	136.0	144.0					15																	26866507		2203	4300	6503	SO:0001583	missense	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.415C>T	15.37:g.26866507G>A	ENSP00000308725:p.Arg139Cys		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R139C	ENST00000311550.5	37	c.415	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689767	0.88735	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.77	4.8	0.61643	Neurotransmitter-gated ion-channel ligand-binding (3);	0.050172	0.85682	D	0.000000	D	0.87434	0.6176	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.982;0.989	D	0.88558	0.3121	10	0.87932	D	0	.	14.7909	0.69841	0.0:0.0:0.8554:0.1446	.	195;139;139	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	C	139;195;139;68;54;54	ENSP00000308725:R139C;ENSP00000442408:R195C;ENSP00000299267:R139C;ENSP00000383049:R68C;ENSP00000439169:R54C;ENSP00000452272:R54C	ENSP00000299267:R139C	R	-	1	0	GABRB3	24417600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.427000	0.73378	2.748000	0.94277	0.461000	0.40582	CGC	GABRB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000166206		0.493	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0.00	32	0	G			26866507	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	A
GAREM	64762	genome.wustl.edu	37	18	29867784	29867784	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr18:29867784G>T	ENST00000269209.6	-	4	779	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Missense_Mutation_p.P259Q|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	259	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GAGGTCGTATGGGTTTCTCGG	0.527																																																	0													198.0	170.0	179.0					18																	29867784		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.776C>A	18.37:g.29867784G>T	ENSP00000269209:p.Pro259Gln		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.P259Q	ENST00000269209.6	37	c.776	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609832	0.46527	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.13778	2.56;2.56	5.65	5.65	0.86999	.	0.049129	0.85682	D	0.000000	T	0.20495	0.0493	L	0.46157	1.445	0.58432	D	0.999998	B;B	0.26602	0.103;0.154	B;B	0.34489	0.132;0.184	T	0.02313	-1.1178	10	0.59425	D	0.04	-17.103	20.0679	0.97707	0.0:0.0:1.0:0.0	.	259;259	Q9H706;Q9H706-3	FA59A_HUMAN;.	Q	259	ENSP00000382165:P259Q;ENSP00000269209:P259Q	ENSP00000269209:P259Q	P	-	2	0	FAM59A	28121782	1.000000	0.71417	0.968000	0.41197	0.930000	0.56654	5.685000	0.68204	2.821000	0.97095	0.561000	0.74099	CCA	GAREM	-	NULL	ENSG00000141441		0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GAREM	HGNC	protein_coding	OTTHUMT00000255365.1	-	0.00	37	0	G	NM_022751		29867784	-1	tier1	-	no_errors	ENST00000269209	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.997	T
GARNL3	84253	genome.wustl.edu	37	9	130155584	130155584	+	3'UTR	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:130155584T>C	ENST00000373387.4	+	0	3445				GARNL3_ENST00000435213.2_3'UTR|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGGTTTATACTCTTTAAACAG	0.408																																																	0													29.0	35.0	33.0					9																	130155584		2201	4299	6500	SO:0001624	3_prime_UTR_variant	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.*51T>C	9.37:g.130155584T>C			B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	RNA	SNP	-	NULL	ENST00000373387.4	37	NULL	CCDS6869.2	9																																																																																			GARNL3	-	-	ENSG00000136895		0.408	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	-	0.00	57	0	T	NM_032293		130155584	+1	tier1	-	no_errors	ENST00000496711	ensembl	human	known	74_37	rna	7.14	52	4	SNP	0.972	C
GPR32	2854	genome.wustl.edu	37	19	51274851	51274851	+	Missense_Mutation	SNP	A	A	C	rs201404376		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:51274851A>C	ENST00000270590.4	+	1	1131	c.994A>C	c.(994-996)Act>Cct	p.T332P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGTCTTTGACTTCTGCCCT	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													66.0	71.0	69.0					19																	51274851		2203	4298	6501	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.994A>C	19.37:g.51274851A>C	ENSP00000270590:p.Thr332Pro		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.T332P	ENST00000270590.4	37	c.994	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.066505	0.00382	.	.	ENSG00000142511	ENST00000270590	T	0.36699	1.24	2.71	-0.781	0.10965	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	9	0.02654	T	1	.	3.6506	0.08202	0.205:0.5623:0.0:0.2327	.	332	O75388	GPR32_HUMAN	P	332	ENSP00000270590:T332P	ENSP00000270590:T332P	T	+	1	0	GPR32	55966663	0.000000	0.05858	0.025000	0.17156	0.653000	0.38743	0.089000	0.15002	-0.262000	0.09392	-0.755000	0.03482	ACT	GPR32	-	prints_Formyl_pep_rcpt	ENSG00000142511		0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0.00	60	0	A			51274851	+1	tier1	rs201404376	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.018	C
GRID2	2895	genome.wustl.edu	37	4	94145855	94145855	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:94145855A>C	ENST00000282020.4	+	7	1312	c.1054A>C	c.(1054-1056)Agt>Cgt	p.S352R	GRID2_ENST00000510992.1_Missense_Mutation_p.S257R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	352					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CAGCATGGCAAGTCTGTCATG	0.438																																																	0													78.0	76.0	77.0					4																	94145855		2203	4300	6503	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1054A>C	4.37:g.94145855A>C	ENSP00000282020:p.Ser352Arg		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S352R	ENST00000282020.4	37	c.1054	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713890	0.68730	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.87334	-2.24;-2.24;-2.24	5.53	4.36	0.52297	Extracellular ligand-binding receptor (1);	0.045708	0.85682	D	0.000000	D	0.88537	0.6463	L	0.43923	1.385	0.80722	D	1	P;D;D	0.59767	0.918;0.986;0.984	P;P;P	0.59288	0.697;0.8;0.855	D	0.88489	0.3074	10	0.87932	D	0	.	11.3063	0.49336	0.9291:0.0:0.0709:0.0	.	257;352;257	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	R	352;257;33	ENSP00000282020:S352R;ENSP00000421257:S257R;ENSP00000423331:S33R	ENSP00000282020:S352R	S	+	1	0	GRID2	94364878	1.000000	0.71417	0.046000	0.18839	0.654000	0.38779	9.339000	0.96797	0.941000	0.37499	0.533000	0.62120	AGT	GRID2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152208		0.438	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0.00	32	0	A			94145855	+1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.995	C
GRIN2A	2903	genome.wustl.edu	37	16	9923301	9923301	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:9923301C>T	ENST00000396573.2	-	10	2295	c.1986G>A	c.(1984-1986)gtG>gtA	p.V662V	GRIN2A_ENST00000396575.2_Silent_p.V662V|GRIN2A_ENST00000535259.1_Silent_p.V505V|GRIN2A_ENST00000330684.3_Silent_p.V662V|GRIN2A_ENST00000404927.2_Silent_p.V662V|GRIN2A_ENST00000562109.1_Silent_p.V662V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	662					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAGGCCGGTCACTTGGTCCA	0.498																																																	0													115.0	104.0	108.0					16																	9923301		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1986G>A	16.37:g.9923301C>T			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V662	ENST00000396573.2	37	c.1986	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000183454		0.498	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	-	0.00	71	0	C			9923301	-1	tier1	-	no_errors	ENST00000330684	ensembl	human	known	74_37	silent	23.33	46	14	SNP	1.000	T
GSTM3	2947	genome.wustl.edu	37	1	110282849	110282849	+	Intron	SNP	A	A	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:110282849A>G	ENST00000540225.1	-	2	359				RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Intron|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Intron			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)						cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TCTACCGTTGAGACGGCACTC	0.607																																																	0													60.0	53.0	55.0					1																	110282849		2203	4300	6503	SO:0001627	intron_variant	0			BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.48+12T>C	1.37:g.110282849A>G			O60550|Q96HA3	RNA	SNP	-	NULL	ENST00000540225.1	37	NULL	CCDS812.1	1																																																																																			GSTM3	-	-	ENSG00000134202		0.607	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM3	HGNC	protein_coding	OTTHUMT00000032182.1	-	0.00	28	0	A	NM_000849		110282849	-1	tier1	-	no_errors	ENST00000488824	ensembl	human	known	74_37	rna	30.00	14	6	SNP	0.000	G
GTDC1	79712	genome.wustl.edu	37	2	144764923	144764923	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:144764923T>C	ENST00000392869.2	-	6	853	c.701A>G	c.(700-702)gAa>gGa	p.E234G	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.E234G|GTDC1_ENST00000409214.1_Missense_Mutation_p.E234G|GTDC1_ENST00000344850.4_Missense_Mutation_p.E234G|GTDC1_ENST00000463875.2_Missense_Mutation_p.E105G|GTDC1_ENST00000241391.5_Missense_Mutation_p.E234G|GTDC1_ENST00000392867.3_Missense_Mutation_p.E234G	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	234					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ACCCAAATATTCTTGTCGTGC	0.383																																																	0													114.0	111.0	112.0					2																	144764923		2203	4300	6503	SO:0001583	missense	0			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.701A>G	2.37:g.144764923T>C	ENSP00000376608:p.Glu234Gly		A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1	p.E234G	ENST00000392869.2	37	c.701	CCDS33300.1	2	.	.	.	.	.	.	.	.	.	.	T	12.44	1.938628	0.34189	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.50001	0.79;0.79;0.76;0.79;0.76;0.79;0.77	4.77	-4.56	0.03431	.	0.871755	0.10192	N	0.704502	T	0.40862	0.1134	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.12013	0.0;0.001;0.0;0.005	B;B;B;B	0.09377	0.001;0.004;0.0;0.004	T	0.33650	-0.9860	10	0.44086	T	0.13	-0.4239	11.0116	0.47665	0.0:0.455:0.0:0.545	.	234;234;234;234	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	G	234;234;234;234;234;234;105	ENSP00000376608:E234G;ENSP00000386581:E234G;ENSP00000376606:E234G;ENSP00000438323:E234G;ENSP00000241391:E234G;ENSP00000339750:E234G;ENSP00000437964:E105G	ENSP00000241391:E234G	E	-	2	0	GTDC1	144481393	0.987000	0.35691	0.000000	0.03702	0.001000	0.01503	1.450000	0.35134	-1.089000	0.03073	-0.408000	0.06270	GAA	GTDC1	-	NULL	ENSG00000121964		0.383	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	-	0.00	58	0	T	NM_024659		144764923	-1	tier1	-	no_errors	ENST00000344850	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.000	C
HAVCR2	84868	genome.wustl.edu	37	5	156535950	156535950	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:156535950C>T	ENST00000307851.4	-	1	775	c.45G>A	c.(43-45)ctG>ctA	p.L15L	HAVCR2_ENST00000522593.1_Silent_p.L15L|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTAGTAGCAGCAGCAGCA	0.443																																																	2	Substitution - coding silent(1)|Deletion - In frame(1)	large_intestine(2)											135.0	120.0	126.0					5																	156535950		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45G>A	5.37:g.156535950C>T			B2RAY2|Q8WW60|Q96K94	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L15	ENST00000307851.4	37	c.45	CCDS4333.1	5																																																																																			HAVCR2	-	pfscan_Ig-like_dom	ENSG00000135077		0.443	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	HGNC	protein_coding	OTTHUMT00000252574.2	-	0.00	78	0	C			156535950	-1	tier1	-	no_errors	ENST00000307851	ensembl	human	known	74_37	silent	7.14	78	6	SNP	0.091	T
HECTD4	283450	genome.wustl.edu	37	12	112690234	112690234	+	Silent	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:112690234G>T	ENST00000430131.2	-	22	3425	c.2280C>A	c.(2278-2280)cgC>cgA	p.R760R	HECTD4_ENST00000550722.1_Silent_p.R1036R|HECTD4_ENST00000377560.5_Silent_p.R1010R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	760					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTACCTGAGCGCGAACTGTGC	0.463																																																	0													153.0	143.0	146.0					12																	112690234		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2280C>A	12.37:g.112690234G>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R1010	ENST00000430131.2	37	c.3030		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.463	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0.00	38	0	G	NM_173813		112690234	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	22.22	35	10	SNP	1.000	T
HLA-DRB5	3127	genome.wustl.edu	37	6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	rs139485758	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309																1	Substitution - Missense(1)	NS(1)											61.0	68.0	65.0					6																	32487265		1933	3889	5822	SO:0001583	missense	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His			Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Q178H	ENST00000374975.3	37	c.534	CCDS4751.1	6	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG	HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000198502		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	-	0.00	15	0	C	NM_002125		32487265	-1	tier1	rs139485758	no_errors	ENST00000374975	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.000	G
HPS5	11234	genome.wustl.edu	37	11	18320503	18320503	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:18320503C>T	ENST00000349215.3	-	10	1277	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	HPS5_ENST00000531848.1_Missense_Mutation_p.A220T|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000438420.2_Missense_Mutation_p.A220T|HPS5_ENST00000396253.3_Missense_Mutation_p.A220T	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	334					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTACAGACAGCCACATCCTGA	0.393									Hermansky-Pudlak syndrome																																								0													124.0	112.0	116.0					11																	18320503		2199	4293	6492	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1000G>A	11.37:g.18320503C>T	ENSP00000265967:p.Ala334Thr		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.A334T	ENST00000349215.3	37	c.1000	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774390	0.70107	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.58506	0.34;0.34;0.33;1.38	5.2	5.2	0.72013	.	0.100238	0.64402	D	0.000002	T	0.71434	0.3339	M	0.74881	2.28	0.58432	D	0.999996	D	0.58970	0.984	P	0.59643	0.861	T	0.71777	-0.4490	10	0.48119	T	0.1	.	14.1684	0.65493	0.1496:0.8504:0.0:0.0	.	334	Q9UPZ3	HPS5_HUMAN	T	220;220;334;220	ENSP00000379552:A220T;ENSP00000399590:A220T;ENSP00000265967:A334T;ENSP00000431758:A220T	ENSP00000265967:A334T	A	-	1	0	HPS5	18277079	0.992000	0.36948	1.000000	0.80357	0.869000	0.49853	2.640000	0.46579	2.861000	0.98227	0.655000	0.94253	GCT	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.393	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	-	0.00	45	0	C	NM_181507		18320503	-1	tier1	-	no_errors	ENST00000349215	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
HSF1	3297	genome.wustl.edu	37	8	145537251	145537251	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:145537251G>T	ENST00000528838.1	+	10	1357	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'Flank|HSF1_ENST00000528842.1_3'UTR|HSF1_ENST00000400780.4_Missense_Mutation_p.Q362H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	399	Hydrophobic repeat HR-C.|Transactivation domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ATAACCTGCAGACCATGCTGA	0.672																																																	0													80.0	60.0	66.0					8																	145537251		2202	4299	6501	SO:0001583	missense	0			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.1197G>T	8.37:g.145537251G>T	ENSP00000431512:p.Gln399His		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.Q399H	ENST00000528838.1	37	c.1197	CCDS6419.1	8	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888858	0.91814	.	.	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	4.84	4.84	0.62591	Vertebrate heat shock transcription factor (1);	0.065750	0.64402	D	0.000006	T	0.79839	0.4515	M	0.80422	2.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.82835	-0.0261	9	0.87932	D	0	-26.9679	15.4864	0.75571	0.0:0.0:1.0:0.0	.	399	Q00613	HSF1_HUMAN	H	399;362	.	ENSP00000383590:Q362H	Q	+	3	2	HSF1	145508059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.957000	0.76019	2.501000	0.84356	0.650000	0.86243	CAG	HSF1	-	pfam_Vert_HSTF_C	ENSG00000185122		0.672	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1		0.00	23	0	G	NM_005526		145537251	+1			no_errors	ENST00000528838	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
HYDIN	54768	genome.wustl.edu	37	16	71220807	71220808	+	5'UTR	INS	-	-	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:71220807_71220808insT	ENST00000393567.2	-	0	141_142				HYDIN_ENST00000448691.1_5'UTR|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Ins_p.L15fs|HYDIN_ENST00000541601.1_Frame_Shift_Ins_p.L15fs|HYDIN_ENST00000538248.1_Frame_Shift_Ins_p.L25fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTTTAGTAATTTTTTTTTCT	0.337																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.-10->A	16.37:g.71220816_71220816dupT			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	superfamily_PapD-like	p.L24fs	ENST00000393567.2	37	c.73_72	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.337	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0.00	34	0	-			71220808	-1	tier1		no_errors	ENST00000538248	ensembl	human	known	74_37	frame_shift_ins	8.33	33	3	INS	0.140:0.169	T
IGF2R	3482	genome.wustl.edu	37	6	160523575	160523575	+	Silent	SNP	C	C	T	rs149900660	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:160523575C>T	ENST00000356956.1	+	46	7015	c.6867C>T	c.(6865-6867)ccC>ccT	p.P2289P	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2289					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCGAGAATCCCGGGGACGACG	0.647													T|||	2	0.000399361	0.0	0.0	5008	,	,		18079	0.0		0.0	False		,,,				2504	0.002																0								T		1,4405	794.7+/-415.3	0,1,2202	57.0	52.0	54.0		6867	-10.9	0.0	6	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	IGF2R	NM_000876.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2289/2492	160523575	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6867C>T	6.37:g.160523575C>T			Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.P2289	ENST00000356956.1	37	c.6867	CCDS5273.1	6																																																																																			IGF2R	-	NULL	ENSG00000197081		0.647	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0.00	55	0	C	NM_000876		160523575	+1	tier1	rs149900660	no_errors	ENST00000356956	ensembl	human	known	74_37	silent	40.38	31	21	SNP	0.007	T
IL22RA1	58985	genome.wustl.edu	37	1	24447325	24447325	+	Silent	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:24447325G>T	ENST00000270800.1	-	7	1733	c.1695C>A	c.(1693-1695)ggC>ggA	p.G565G		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	565					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCAGGGCCAGGCCTCTGAAAA	0.582																																																	0													58.0	62.0	61.0					1																	24447325		2203	4300	6503	SO:0001819	synonymous_variant	0			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1695C>A	1.37:g.24447325G>T			A8K839|B2R9Y9|Q9HB22	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G565	ENST00000270800.1	37	c.1695	CCDS247.1	1																																																																																			IL22RA1	-	NULL	ENSG00000142677		0.582	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	-	0.00	36	0	G			24447325	-1	tier1	-	no_errors	ENST00000270800	ensembl	human	novel	74_37	silent	29.27	29	12	SNP	0.987	T
IL31RA	133396	genome.wustl.edu	37	5	55212740	55212740	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:55212740C>T	ENST00000447346.2	+	15	2152	c.2087C>T	c.(2086-2088)cCg>cTg	p.P696L	IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.P554L|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	664					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCTGAGATTCCGCCCAGAAAA	0.507																																																	0													53.0	59.0	57.0					5																	55212740		2203	4300	6503	SO:0001583	missense	0			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2087C>T	5.37:g.55212740C>T	ENSP00000415900:p.Pro696Leu		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P696L	ENST00000447346.2	37	c.2087	CCDS3970.2	5	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547938	0.27652	.	.	ENSG00000164509	ENST00000447346;ENST00000490985	T;T	0.45668	1.06;0.89	4.92	3.14	0.36123	.	2.512940	0.01216	N	0.007967	T	0.43456	0.1248	M	0.63428	1.95	0.09310	N	0.999998	B	0.26902	0.163	B	0.20384	0.029	T	0.21724	-1.0237	9	.	.	.	-0.0475	7.9857	0.30210	0.0:0.8124:0.0:0.1876	.	696	Q8NI17-2	.	L	696;554	ENSP00000415900:P696L;ENSP00000427533:P554L	.	P	+	2	0	IL31RA	55248497	0.000000	0.05858	0.004000	0.12327	0.080000	0.17528	0.125000	0.15749	0.784000	0.33661	0.563000	0.77884	CCG	IL31RA	-	NULL	ENSG00000164509		0.507	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1		0.00	39	0	C	NM_139017		55212740	+1			no_errors	ENST00000447346	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.004	T
INTU	27152	genome.wustl.edu	37	4	128564917	128564917	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:128564917delA	ENST00000335251.6	+	2	491	c.388delA	c.(388-390)aaafs	p.K131fs	INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	131					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GCGCTGCAATAAAAAAAATAG	0.358																																																	0													63.0	66.0	65.0					4																	128564917		2203	4300	6503	SO:0001589	frameshift_variant	0			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.388delA	4.37:g.128564917delA	ENSP00000334003:p.Lys131fs		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Del	DEL	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N132fs	ENST00000335251.6	37	c.388	CCDS34061.1	4																																																																																			INTU	-	NULL	ENSG00000164066		0.358	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2		0.00	44	0	A	XM_371707		128564917	+1	tier1		no_errors	ENST00000335251	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	1.000	-
IRF2BP2	359948	genome.wustl.edu	37	1	234744487	234744487	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:234744487G>A	ENST00000366609.3	-	1	784	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R252C	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCCGCCTCACGCTGCTCGTGC	0.766																																																	0													2.0	2.0	2.0					1																	234744487		1515	3343	4858	SO:0001583	missense	0			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.754C>T	1.37:g.234744487G>A	ENSP00000355568:p.Arg252Cys		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.R252C	ENST00000366609.3	37	c.754	CCDS1602.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462001	0.26248	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.34859	1.38;1.34	3.8	2.88	0.33553	.	0.442914	0.22990	N	0.053217	T	0.29355	0.0731	N	0.08118	0	0.27480	N	0.952607	D;D	0.89917	0.999;1.0	P;D	0.65233	0.764;0.933	T	0.04825	-1.0924	10	0.38643	T	0.18	-8.0449	3.6754	0.08290	0.2121:0.0:0.5932:0.1947	.	252;252	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	C	252	ENSP00000355569:R252C;ENSP00000355568:R252C	ENSP00000355568:R252C	R	-	1	0	IRF2BP2	232811110	0.988000	0.35896	0.813000	0.32504	0.041000	0.13682	3.748000	0.55142	0.918000	0.36919	-0.224000	0.12420	CGT	IRF2BP2	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000168264		0.766	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	IRF2BP2	HGNC	protein_coding	OTTHUMT00000092705.1	-	0.00	9	0	G	NM_182972		234744487	-1	tier1	-	no_errors	ENST00000366609	ensembl	human	novel	74_37	missense	70.00	3	7	SNP	0.052	A
IZUMO4	113177	genome.wustl.edu	37	19	2097670	2097670	+	Intron	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:2097670C>T	ENST00000395301.3	+	3	434				IZUMO4_ENST00000395307.2_Intron|IZUMO4_ENST00000588003.1_Intron|MOB3A_ENST00000357066.3_5'Flank|IZUMO4_ENST00000395296.1_Missense_Mutation_p.R153C	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4							extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GCCATCACCCCGCGGGGACCT	0.652																																																	0													7.0	7.0	7.0					19																	2097670		858	1975	2833	SO:0001627	intron_variant	0			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.370+176C>T	19.37:g.2097670C>T			A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	NULL	p.R153C	ENST00000395301.3	37	c.457	CCDS42458.1	19	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455975	0.43634	.	.	ENSG00000099840	ENST00000395296	T	0.35605	1.3	3.44	-5.36	0.02689	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42832	-0.9428	6	0.87932	D	0	.	4.7403	0.13010	0.1493:0.3501:0.0:0.5006	.	.	.	.	C	153	ENSP00000378709:R153C	ENSP00000378709:R153C	R	+	1	0	IZUMO4	2048670	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.075000	0.14686	-1.151000	0.02836	-1.036000	0.02392	CGC	IZUMO4	-	NULL	ENSG00000099840		0.652	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	IZUMO4	HGNC	protein_coding	OTTHUMT00000280536.3	-	0.00	19	0	C	NM_052878		2097670	+1	tier1	-	no_errors	ENST00000395296	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.000	T
JARID2	3720	genome.wustl.edu	37	6	15513490	15513490	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:15513490G>A	ENST00000341776.2	+	16	3531	c.3287G>A	c.(3286-3288)cGc>cAc	p.R1096H	JARID2_ENST00000397311.3_Missense_Mutation_p.R924H	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1096					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTGCGGCAGCGCAGGCAGCTG	0.652																																																	0													17.0	16.0	16.0					6																	15513490		2172	4244	6416	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3287G>A	6.37:g.15513490G>A	ENSP00000341280:p.Arg1096His		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.R1096H	ENST00000341776.2	37	c.3287	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.260351	0.95368	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.88741	-2.42;-2.41	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	L	0.32530	0.975	0.80722	D	1	D	0.55385	0.971	P	0.51266	0.664	D	0.88211	0.2890	10	0.87932	D	0	-12.2458	17.2807	0.87127	0.0:0.0:1.0:0.0	.	1096	Q92833	JARD2_HUMAN	H	1096;924	ENSP00000341280:R1096H;ENSP00000380478:R924H	ENSP00000341280:R1096H	R	+	2	0	JARID2	15621469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.433000	0.97501	2.140000	0.66376	0.462000	0.41574	CGC	JARID2	-	NULL	ENSG00000008083		0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1		0.00	34	0	G	NM_004973		15513490	+1			no_errors	ENST00000341776	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	A
KAT2B	8850	genome.wustl.edu	37	3	20136842	20136842	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:20136842C>A	ENST00000263754.4	+	3	973	c.518C>A	c.(517-519)aCc>aAc	p.T173N	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	173					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TATCTCTTTACCTGTGTCCAC	0.348																																																	0													99.0	102.0	101.0					3																	20136842		2203	4300	6503	SO:0001583	missense	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.518C>A	3.37:g.20136842C>A	ENSP00000263754:p.Thr173Asn		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.T173N	ENST00000263754.4	37	c.518	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698136	0.88830	.	.	ENSG00000114166	ENST00000263754	T	0.20598	2.06	5.6	5.6	0.85130	PCAF, N-terminal (1);	0.092549	0.85682	D	0.000000	T	0.37732	0.1014	L	0.46157	1.445	0.80722	D	1	D	0.55385	0.971	P	0.56865	0.808	T	0.04386	-1.0955	10	0.66056	D	0.02	-6.607	19.6097	0.95600	0.0:1.0:0.0:0.0	.	173	Q92831	KAT2B_HUMAN	N	173	ENSP00000263754:T173N	ENSP00000263754:T173N	T	+	2	0	KAT2B	20111846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.859000	0.62954	2.635000	0.89317	0.555000	0.69702	ACC	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N	ENSG00000114166		0.348	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0.00	66	0	C	NM_003884		20136842	+1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	A
KIAA1024	23251	genome.wustl.edu	37	15	79749285	79749285	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:79749285A>C	ENST00000305428.3	+	2	871	c.796A>C	c.(796-798)Aat>Cat	p.N266H		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	266						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGATTTTCACAATTTGATGGC	0.488																																																	0													78.0	89.0	85.0					15																	79749285		2196	4293	6489	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.796A>C	15.37:g.79749285A>C	ENSP00000307461:p.Asn266His		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.N266H	ENST00000305428.3	37	c.796	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691052	0.48097	.	.	ENSG00000169330	ENST00000305428	T	0.35421	1.31	5.29	4.17	0.49024	.	0.269503	0.41938	D	0.000796	T	0.43523	0.1251	M	0.71581	2.175	0.53005	D	0.999969	P	0.47409	0.895	P	0.47673	0.554	T	0.33059	-0.9883	9	.	.	.	.	10.679	0.45802	0.9247:0.0:0.0753:0.0	.	266	Q9UPX6	K1024_HUMAN	H	266	ENSP00000307461:N266H	.	N	+	1	0	KIAA1024	77536340	1.000000	0.71417	0.738000	0.30950	0.584000	0.36387	8.476000	0.90421	0.854000	0.35336	0.482000	0.46254	AAT	KIAA1024	-	NULL	ENSG00000169330		0.488	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0.00	24	0	A	NM_015206		79749285	+1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	C
KIAA1755	85449	genome.wustl.edu	37	20	36845807	36845807	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:36845807C>T	ENST00000279024.4	-	13	3020	c.2749G>A	c.(2749-2751)Ggg>Agg	p.G917R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	917										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCTGCCTCCCCAGCCCCTCTG	0.672																																																	0													33.0	28.0	30.0					20																	36845807		2203	4300	6503	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2749G>A	20.37:g.36845807C>T	ENSP00000279024:p.Gly917Arg		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.G917R	ENST00000279024.4	37	c.2749	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	9.617	1.132822	0.21041	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.22945	3.31;1.93	3.86	-3.84	0.04256	.	0.649265	0.12912	N	0.428877	T	0.12860	0.0312	L	0.35723	1.085	0.09310	N	1	B;B	0.29508	0.246;0.018	B;B	0.26094	0.066;0.027	T	0.32534	-0.9903	10	0.15066	T	0.55	.	4.5874	0.12289	0.0:0.2335:0.3204:0.446	.	917;425	Q5JYT7;E9PFS1	K1755_HUMAN;.	R	917;425;216	ENSP00000279024:G917R;ENSP00000393503:G216R	ENSP00000279024:G917R	G	-	1	0	KIAA1755	36279221	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.407000	0.07178	-0.630000	0.05567	0.561000	0.74099	GGG	KIAA1755	-	NULL	ENSG00000149633		0.672	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0.00	60	0	C	NM_001029864		36845807	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T
KLHL23	151230	genome.wustl.edu	37	2	170592353	170592353	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:170592353A>T	ENST00000392647.2	+	2	1073	c.829A>T	c.(829-831)Ata>Tta	p.I277L	KLHL23_ENST00000272797.4_Missense_Mutation_p.I277L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	277										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CACAATGTATATAATTGGAGG	0.423																																																	0													91.0	94.0	93.0					2																	170592353		2203	4300	6503	SO:0001583	missense	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.829A>T	2.37:g.170592353A>T	ENSP00000376419:p.Ile277Leu		Q8N9B9|Q96FT8	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I277L	ENST00000392647.2	37	c.829	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402784	0.42613	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.80566	-1.39;-1.39;-1.39	5.81	3.5	0.40072	Kelch-type beta propeller (1);	0.135914	0.53938	D	0.000057	T	0.63546	0.2520	N	0.16833	0.445	0.29580	N	0.849233	B	0.10296	0.003	B	0.19666	0.026	T	0.64909	-0.6296	9	0.62326	D	0.03	.	5.1022	0.14766	0.6958:0.0:0.3042:0.0	.	277	Q8NBE8	KLH23_HUMAN	L	277;277;98	ENSP00000272797:I277L;ENSP00000376419:I277L;ENSP00000394732:I98L	ENSP00000272797:I277L	I	+	1	0	KLHL23	170300599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.542000	0.45744	2.210000	0.71456	0.533000	0.62120	ATA	KLHL23	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000213160		0.423	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	-	0.00	42	0	A	NM_144711		170592353	+1	tier1	-	no_errors	ENST00000272797	ensembl	human	known	74_37	missense	34.48	38	20	SNP	1.000	T
KLK12	43849	genome.wustl.edu	37	19	51532672	51532672	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:51532672T>A	ENST00000525263.1	-	5	752	c.633A>T	c.(631-633)caA>caT	p.Q211H	KLK11_ENST00000453757.3_5'Flank|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250352.11_Missense_Mutation_p.Q101H|KLK11_ENST00000319720.7_5'Flank|KLK11_ENST00000594768.1_5'Flank|KLK12_ENST00000250351.4_Missense_Mutation_p.Q211H|KLK11_ENST00000600362.1_5'Flank|KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000594458.1_5'Flank|KLK12_ENST00000319590.4_Missense_Mutation_p.Q211H|KLK12_ENST00000529888.1_3'UTR			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACACCAGACCTTGAAGGACTC	0.537																																																	0													68.0	73.0	71.0					19																	51532672		2203	4300	6503	SO:0001583	missense	0				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.633A>T	19.37:g.51532672T>A	ENSP00000436458:p.Gln211His		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q211H	ENST00000525263.1	37	c.633	CCDS12821.1	19	.	.	.	.	.	.	.	.	.	.	t	16.86	3.238706	0.58995	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.33	2.01	0.26516	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.299003	0.19115	N	0.122326	D	0.86268	0.5892	L	0.31157	0.91	0.32465	N	0.543614	P;P;P;P	0.52170	0.94;0.833;0.951;0.87	P;P;P;B	0.58391	0.838;0.518;0.82;0.38	D	0.84275	0.0491	10	0.56958	D	0.05	.	3.5754	0.07933	0.1954:0.5839:0.0:0.2207	.	101;101;211;211	B9EGA9;Q49AM7;Q9UKR0-2;Q9UKR0	.;.;.;KLK12_HUMAN	H	211;211;101;211	ENSP00000436458:Q211H;ENSP00000324181:Q211H;ENSP00000250352:Q101H;ENSP00000250351:Q211H	ENSP00000250351:Q211H	Q	-	3	2	KLK12	56224484	0.607000	0.26958	1.000000	0.80357	0.990000	0.78478	-0.440000	0.06888	0.552000	0.29026	-0.355000	0.07637	CAA	KLK12	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000186474		0.537	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	HGNC	protein_coding	OTTHUMT00000386288.1	-	0.00	51	0	T	NM_019598		51532672	-1	tier1	-	no_errors	ENST00000250351	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.999	A
KRTAP10-5	386680	genome.wustl.edu	37	21	46000435	46000435	+	Silent	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr21:46000435G>A	ENST00000400372.1	-	1	46	c.21C>T	c.(19-21)tcC>tcT	p.S7S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	7						keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGAGCAGACGGACATGGTGC	0.657																																																	0													77.0	81.0	80.0					21																	46000435		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.21C>T	21.37:g.46000435G>A			Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	NULL	p.S7	ENST00000400372.1	37	c.21	CCDS42958.1	21																																																																																			KRTAP10-5	-	NULL	ENSG00000241123		0.657	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	-	0.00	149	0	G			46000435	-1	tier1	-	no_errors	ENST00000400372	ensembl	human	known	74_37	silent	30.09	79	34	SNP	0.777	A
LAMC1	3915	genome.wustl.edu	37	1	183077522	183077522	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:183077522G>T	ENST00000258341.4	+	3	1092	c.835G>T	c.(835-837)Gat>Tat	p.D279Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	279	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGCCATCTCTGATTTTGCTGT	0.378																																																	0													109.0	103.0	105.0					1																	183077522		2203	4300	6503	SO:0001583	missense	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.835G>T	1.37:g.183077522G>T	ENSP00000258341:p.Asp279Tyr		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.D279Y	ENST00000258341.4	37	c.835	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347496	0.82022	.	.	ENSG00000135862	ENST00000258341	T	0.80909	-1.43	4.59	4.59	0.56863	Laminin, N-terminal (3);	0.105878	0.64402	D	0.000012	D	0.92535	0.7629	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94836	0.8000	10	0.87932	D	0	.	17.7597	0.88461	0.0:0.0:1.0:0.0	.	279	P11047	LAMC1_HUMAN	Y	279	ENSP00000258341:D279Y	ENSP00000258341:D279Y	D	+	1	0	LAMC1	181344145	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	9.473000	0.97714	2.257000	0.74773	0.467000	0.42956	GAT	LAMC1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000135862		0.378	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	-	0.00	91	0	G	NM_002293		183077522	+1	tier1	-	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	14.81	92	16	SNP	1.000	T
LINC00326	285735	genome.wustl.edu	37	6	133421320	133421320	+	lincRNA	SNP	T	T	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:133421320T>A	ENST00000457339.1	+	0	2028									long intergenic non-protein coding RNA 326																		GATCCAGAAATCAGGTATTTA	0.323																																																	0													354.0	321.0	331.0					6																	133421320		692	1591	2283			0					6q23.2	2012-10-12	2011-08-10	2011-08-10	ENSG00000231023	ENSG00000231023		"""Long non-coding RNAs"""	41926	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 326"""	NCRNA00326			Standard	NR_026969		Approved		uc003qdz.3		OTTHUMG00000015597		6.37:g.133421320T>A				RNA	SNP	-	NULL	ENST00000457339.1	37	NULL		6																																																																																			LINC00326	-	-	ENSG00000231023		0.323	LINC00326-002	KNOWN	basic	lincRNA	LINC00326	HGNC	lincRNA	OTTHUMT00000317882.1	-	0.00	59	0	T	NR_026969		133421320	+1	tier1	-	no_errors	ENST00000434443	ensembl	human	known	74_37	rna	6.67	56	4	SNP	0.011	A
LINGO2	158038	genome.wustl.edu	37	9	27950666	27950666	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:27950666G>T	ENST00000379992.2	-	6	453	c.4C>A	c.(4-6)Ctt>Att	p.L2I	LINGO2_ENST00000308675.3_Missense_Mutation_p.L2I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	2						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCCGTGTGAAGCATGACTCCA	0.522																																																	0													60.0	45.0	50.0					9																	27950666		2203	4300	6503	SO:0001583	missense	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.4C>A	9.37:g.27950666G>T	ENSP00000369328:p.Leu2Ile		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L2I	ENST00000379992.2	37	c.4	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071890	0.76301	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.57595	0.39;0.39	5.74	5.74	0.90152	.	0.063428	0.64402	D	0.000004	T	0.54240	0.1846	L	0.61218	1.895	0.80722	D	1	B	0.16802	0.019	B	0.19391	0.025	T	0.47045	-0.9147	9	.	.	.	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	2	Q7L985	LIGO2_HUMAN	I	2	ENSP00000369328:L2I;ENSP00000310126:L2I	.	L	-	1	0	LINGO2	27940666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.510000	0.73729	2.873000	0.98535	0.561000	0.74099	CTT	LINGO2	-	NULL	ENSG00000174482		0.522	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2		0.00	35	0	G	NM_152570		27950666	-1			no_errors	ENST00000308675	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
LINC01410	103352539	genome.wustl.edu	37	9	66466650	66466650	+	lincRNA	SNP	G	G	C	rs1133399	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:66466650G>C	ENST00000424345.1	+	0	1283																											gctaataaaggactccttaat	0.478																																																	0																																												0																															9.37:g.66466650G>C				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-	ENSG00000238113		0.478	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	-	0.00	12	0	G			66466650	+1	tier1	rs1133399	no_errors	ENST00000424345	ensembl	human	known	74_37	rna	57.14	3	4	SNP	0.105	C
LOC643406	643406	genome.wustl.edu	37	20	5454483	5454483	+	lincRNA	SNP	G	G	A	rs201294214	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:5454483G>A	ENST00000430097.2	+	0	491					NR_029405.1																						GGTCAGACACGCCTGCCCAGC	0.537													G|||	13	0.00259585	0.0008	0.0043	5008	,	,		21246	0.0		0.0089	False		,,,				2504	0.0																0																																												0																															20.37:g.5454483G>A				RNA	SNP	-	NULL	ENST00000430097.2	37	NULL		20																																																																																			RP5-828H9.1	-	-	ENSG00000230563		0.537	RP5-828H9.1-001	KNOWN	basic	lincRNA	LOC643406	Clone_based_vega_gene	lincRNA	OTTHUMT00000077864.1	-	0.00	69	0	G			5454483	+1	tier1	rs201294214	no_errors	ENST00000430097	ensembl	human	known	74_37	rna	32.26	42	20	SNP	0.000	A
LPIN3	64900	genome.wustl.edu	37	20	39980508	39980508	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:39980508G>T	ENST00000373257.3	+	8	1241	c.1150G>T	c.(1150-1152)Gat>Tat	p.D384Y		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	384					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CATCTACCTGGATGACTTGCC	0.577																																																	0													118.0	111.0	113.0					20																	39980508		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1150G>T	20.37:g.39980508G>T	ENSP00000362354:p.Asp384Tyr		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.D384Y	ENST00000373257.3	37	c.1150	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994355	0.74703	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.85411	-1.98	5.32	4.35	0.52113	.	0.120841	0.53938	N	0.000060	D	0.92740	0.7692	M	0.87682	2.9	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.99	D	0.93360	0.6726	9	.	.	.	-16.1071	13.9329	0.64007	0.0:0.0:0.8465:0.1535	.	385;384	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	Y	384;48	ENSP00000362354:D384Y	.	D	+	1	0	LPIN3	39413922	1.000000	0.71417	0.819000	0.32651	0.898000	0.52572	7.955000	0.87856	1.185000	0.42971	0.563000	0.77884	GAT	LPIN3	-	NULL	ENSG00000132793		0.577	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0.00	55	0	G	NM_022896		39980508	+1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	T
LRFN2	57497	genome.wustl.edu	37	6	40400534	40400534	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:40400534G>T	ENST00000338305.6	-	2	861	c.319C>A	c.(319-321)Ctt>Att	p.L107I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	107						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGCTGTCAAGATGCAGGGAG	0.612																																																	0													56.0	44.0	48.0					6																	40400534		2203	4300	6503	SO:0001583	missense	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.319C>A	6.37:g.40400534G>T	ENSP00000345985:p.Leu107Ile		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,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_dom	p.L107I	ENST00000338305.6	37	c.319	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972404	0.53614	.	.	ENSG00000156564	ENST00000338305	T	0.08458	3.09	5.76	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	M	0.86343	2.81	0.47905	D	0.999541	D	0.76494	0.999	D	0.74674	0.984	T	0.00516	-1.1694	10	0.36615	T	0.2	.	10.7721	0.46330	0.161:0.0:0.839:0.0	.	107	Q9ULH4	LRFN2_HUMAN	I	107	ENSP00000345985:L107I	ENSP00000345985:L107I	L	-	1	0	LRFN2	40508512	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	2.005000	0.40864	2.736000	0.93811	0.655000	0.94253	CTT	LRFN2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000156564		0.612	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1		0.00	33	0	G	XM_166372		40400534	-1			no_errors	ENST00000338305	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
LRRC17	10234	genome.wustl.edu	37	7	102575006	102575006	+	Missense_Mutation	SNP	G	G	A	rs80100722		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:102575006G>A	ENST00000339431.4	+	2	941	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.E216K|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	216					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TAATGAAGAAGAAAAGGAACA	0.433																																																	0													38.0	39.0	39.0					7																	102575006		2157	4282	6439	SO:0001583	missense	0			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.646G>A	7.37:g.102575006G>A	ENSP00000344242:p.Glu216Lys		Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E216K	ENST00000339431.4	37	c.646	CCDS34721.1	7	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553100	0.45487	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.63096	0.27;-0.02	5.28	4.33	0.51752	.	0.223034	0.31031	N	0.008387	T	0.50069	0.1594	L	0.55481	1.735	0.09310	N	1	B;B	0.28933	0.146;0.228	B;B	0.30855	0.038;0.121	T	0.41574	-0.9501	10	0.05959	T	0.93	-21.2297	9.2511	0.37555	0.0765:0.1469:0.7766:0.0	.	216;216	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	K	216	ENSP00000344242:E216K;ENSP00000249377:E216K	ENSP00000249377:E216K	E	+	1	0	LRRC17	102362242	0.526000	0.26298	0.605000	0.28930	0.985000	0.73830	1.553000	0.36255	2.617000	0.88574	0.563000	0.77884	GAA	LRRC17	-	NULL	ENSG00000128606		0.433	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC17	HGNC	protein_coding	OTTHUMT00000347930.1		0.00	71	0	G	NM_005824		102575006	+1			no_errors	ENST00000339431	ensembl	human	known	74_37	missense	7.61	85	7	SNP	0.059	A
LRRC53	100144878	genome.wustl.edu	37	1	74946499	74946499	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:74946499G>A	ENST00000294635.4	-	3	356	c.242C>T	c.(241-243)aCg>aTg	p.T81M	FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|TNNI3K_ENST00000326637.3_Intron|LRRC53_ENST00000416014.2_Missense_Mutation_p.T81M			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53	81						integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						CCGCAACATCGTAAGCCCATG	0.502																																																	0																																										SO:0001583	missense	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.242C>T	1.37:g.74946499G>A	ENSP00000294635:p.Thr81Met			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T81M	ENST00000294635.4	37	c.242		1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351199	0.24512	.	.	ENSG00000162621	ENST00000416014;ENST00000294635	T;T	0.55052	0.54;0.54	5.36	4.41	0.53225	.	0.539081	0.16747	N	0.201203	T	0.39489	0.1080	.	.	.	0.23010	N	0.998431	.	.	.	.	.	.	T	0.22836	-1.0205	7	0.51188	T	0.08	-1.8313	10.7851	0.46401	0.0:0.14:0.7154:0.1445	.	.	.	.	M	81	ENSP00000391861:T81M;ENSP00000294635:T81M	ENSP00000294635:T81M	T	-	2	0	LRRC53	74719087	0.021000	0.18746	0.050000	0.19076	0.153000	0.21895	2.001000	0.40825	2.507000	0.84556	0.462000	0.41574	ACG	LRRC53	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000162621		0.502	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC53	HGNC	protein_coding	OTTHUMT00000026515.2	-	0.00	32	0	G			74946499	-1	tier1	-	no_errors	ENST00000294635	ensembl	human	novel	74_37	missense	36.84	12	7	SNP	0.004	A
LRRN3	54674	genome.wustl.edu	37	7	110762973	110762973	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:110762973G>A	ENST00000422987.3	+	2	976	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.E49K|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.E49K|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	49	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CATTTATATGGAAGCATCTAC	0.393																																																	0													151.0	138.0	143.0					7																	110762973		2203	4300	6503	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.145G>A	7.37:g.110762973G>A	ENSP00000412417:p.Glu49Lys		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E49K	ENST00000422987.3	37	c.145	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832970	0.91036	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.096544	0.44688	D	0.000431	T	0.50990	0.1648	M	0.79258	2.445	0.80722	D	1	D	0.53151	0.958	P	0.56916	0.809	T	0.49173	-0.8967	10	0.62326	D	0.03	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	49	Q9H3W5	LRRN3_HUMAN	K	49	ENSP00000312001:E49K;ENSP00000397312:E49K;ENSP00000412417:E49K;ENSP00000407927:E49K	ENSP00000312001:E49K	E	+	1	0	LRRN3	110550209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	GAA	LRRN3	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000173114		0.393	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0.00	43	0	G	NM_018334		110762973	+1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A
LY75	4065	genome.wustl.edu	37	2	160711447	160711447	+	Missense_Mutation	SNP	C	C	T	rs115323272	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:160711447C>T	ENST00000263636.4	-	17	2414	c.2387G>A	c.(2386-2388)cGt>cAt	p.R796H	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R796H|LY75_ENST00000553424.1_Missense_Mutation_p.R796H|LY75_ENST00000554112.1_Missense_Mutation_p.R796H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R796H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	796					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTTGGAGTACGGCCTGTATG	0.388													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21086	0.0		0.0	False		,,,				2504	0.0																0													162.0	153.0	156.0					2																	160711447		2203	4300	6503	SO:0001583	missense	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2387G>A	2.37:g.160711447C>T	ENSP00000263636:p.Arg796His		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.R796H	ENST00000263636.4	37	c.2387	CCDS2211.1	2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.80	2.046453	0.36085	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.09538	3.0;3.0;2.97;3.0;3.0	6.17	-7.45	0.01374	C-type lectin-like (1);	1.346020	0.05647	N	0.584414	T	0.04318	0.0119	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43686	-0.9376	10	0.36615	T	0.2	-0.0083	6.7395	0.23428	0.3015:0.1489:0.0:0.5496	.	796;796;796	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	796	ENSP00000451511:R796H;ENSP00000451446:R796H;ENSP00000263636:R796H;ENSP00000423463:R796H;ENSP00000421035:R796H	ENSP00000423463:R796H	R	-	2	0	LY75;LY75-CD302	160419693	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-2.078000	0.01370	-1.060000	0.03189	-0.812000	0.03155	CGT	LY75	-	NULL	ENSG00000054219		0.388	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1		0.00	31	0	C			160711447	-1			no_errors	ENST00000554112	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	T
MAN2B1	4125	genome.wustl.edu	37	19	12768292	12768292	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:12768292G>A	ENST00000456935.2	-	11	1427	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.R462C|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	463					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCAAGCTGGCGCGCGTAGTCG	0.687																																																	0													10.0	8.0	9.0					19																	12768292		2155	4224	6379	SO:0001583	missense	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1387C>T	19.37:g.12768292G>A	ENSP00000395473:p.Arg463Cys		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R463C	ENST00000456935.2	37	c.1387	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552542	0.45487	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.83250	-1.7;-1.7	4.71	1.25	0.21368	Glycoside hydrolase, family 38, central domain (2);	0.510762	0.14075	N	0.343135	D	0.88171	0.6365	M	0.83223	2.63	0.36305	D	0.857266	D;D	0.76494	0.999;0.999	P;D	0.63033	0.854;0.91	D	0.86604	0.1868	10	0.87932	D	0	-9.3899	5.0374	0.14441	0.1913:0.0:0.6356:0.1731	.	462;463	G5E928;O00754	.;MA2B1_HUMAN	C	463;402;462	ENSP00000395473:R463C;ENSP00000221363:R462C	ENSP00000221363:R462C	R	-	1	0	MAN2B1	12629292	0.006000	0.16342	0.014000	0.15608	0.100000	0.18952	0.898000	0.28404	0.356000	0.24157	0.313000	0.20887	CGC	MAN2B1	-	pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom	ENSG00000104774		0.687	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	-	0.00	29	0	G			12768292	-1	tier1	-	no_errors	ENST00000456935	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.530	A
MAP4K2	5871	genome.wustl.edu	37	11	64557073	64557073	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:64557073G>T	ENST00000294066.2	-	32	2490	c.2399C>A	c.(2398-2400)cCc>cAc	p.P800H	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P792H	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	800					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GTTGTCAGTGGGAATGCTCTC	0.632																																																	0													97.0	85.0	89.0					11																	64557073		2201	4297	6498	SO:0001583	missense	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2399C>A	11.37:g.64557073G>T	ENSP00000294066:p.Pro800His		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.P800H	ENST00000294066.2	37	c.2399	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516670	0.85495	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.71103	-0.54;-0.51	5.19	5.19	0.71726	Citron-like (1);	0.120251	0.56097	D	0.000024	T	0.82195	0.4984	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84025	0.0356	10	0.87932	D	0	.	14.2799	0.66205	0.0:0.0:1.0:0.0	.	792;800	Q86VU3;Q12851	.;M4K2_HUMAN	H	800;792	ENSP00000294066:P800H;ENSP00000366567:P792H	ENSP00000294066:P800H	P	-	2	0	MAP4K2	64313649	1.000000	0.71417	0.987000	0.45799	0.826000	0.46750	8.251000	0.89838	2.446000	0.82766	0.555000	0.69702	CCC	MAP4K2	-	smart_Citron	ENSG00000168067		0.632	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1		0.00	60	0	G	NM_004579		64557073	-1			no_errors	ENST00000294066	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
MAP3K11	4296	genome.wustl.edu	37	11	65375494	65375494	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:65375494C>T	ENST00000530153.1	-	3	718	c.197G>A	c.(196-198)cGt>cAt	p.R66H	MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.R323H					mitogen-activated protein kinase kinase kinase 11									p.R323H(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GTCAATGCCACGGTATGGCAC	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											107.0	81.0	90.0					11																	65375494		2201	4297	6498	SO:0001583	missense	0				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.197G>A	11.37:g.65375494C>T	ENSP00000433886:p.Arg66His			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R323H	ENST00000530153.1	37	c.968		11	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881843	0.72294	.	.	ENSG00000173327	ENST00000309100;ENST00000530153;ENST00000526293;ENST00000529839	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.66	4.66	0.58398	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.146210	0.46145	D	0.000301	T	0.79246	0.4413	N	0.26092	0.79	0.49798	D	0.99982	P	0.52577	0.954	P	0.48552	0.581	T	0.82057	-0.0646	10	0.59425	D	0.04	.	15.083	0.72130	0.0:1.0:0.0:0.0	.	323	Q16584	M3K11_HUMAN	H	323;66;73;66	ENSP00000309597:R323H;ENSP00000433886:R66H;ENSP00000435970:R73H;ENSP00000435237:R66H	ENSP00000309597:R323H	R	-	2	0	MAP3K11	65132070	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.870000	0.69620	2.431000	0.82371	0.491000	0.48974	CGT	MAP3K11	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000173327		0.602	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390233.2	-	0.00	33	0	C			65375494	-1	tier1	-	no_errors	ENST00000309100	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
MBTD1	54799	genome.wustl.edu	37	17	49270349	49270349	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:49270349C>G	ENST00000586178.1	-	15	1827	c.1484G>C	c.(1483-1485)gGa>gCa	p.G495A	MBTD1_ENST00000415868.1_Missense_Mutation_p.G495A|MBTD1_ENST00000376381.2_3'UTR	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	495					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TAATTTCATTCCTACACGAAA	0.368																																																	0													158.0	153.0	155.0					17																	49270349		2203	4300	6503	SO:0001583	missense	0			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1484G>C	17.37:g.49270349C>G	ENSP00000468304:p.Gly495Ala		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.G495A	ENST00000586178.1	37	c.1484	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524114	0.64747	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.52295	0.67	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.77712	2.385	0.80722	D	1	B;P	0.37663	0.258;0.604	B;B	0.39258	0.155;0.295	T	0.60010	-0.7346	10	0.66056	D	0.02	.	16.4848	0.84181	0.0:0.8692:0.1308:0.0	.	495;331	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	A	495	ENSP00000403946:G495A	ENSP00000386072:G495A	G	-	2	0	MBTD1	46625348	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.996000	0.70639	2.784000	0.95788	0.650000	0.86243	GGA	MBTD1	-	smart_Mbt,pfscan_Mbt	ENSG00000011258		0.368	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	-	0.00	23	0	C			49270349	-1	tier1	-	no_errors	ENST00000415868	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G
MDC1	9656	genome.wustl.edu	37	6	30675997	30675997	+	Missense_Mutation	SNP	C	C	T	rs148637924	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:30675997C>T	ENST00000376406.3	-	8	3006	c.2359G>A	c.(2359-2361)Gga>Aga	p.G787R	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	787				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGTTGGTCTCCTGGTATTGCC	0.527								Other conserved DNA damage response genes					c|||	2	0.000399361	0.0	0.0	5008	,	,		20347	0.0		0.001	False		,,,				2504	0.001																0									ARG/GLY	0,3020		0,0,1510	182.0	174.0	177.0		2359	-3.4	0.0	6	dbSNP_134	177	10,5408		0,10,2699	yes	missense	MDC1	NM_014641.2	125	0,10,4209	TT,TC,CC		0.1846,0.0,0.1185	possibly-damaging	787/2090	30675997	10,8428	1510	2709	4219	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2359G>A	6.37:g.30675997C>T	ENSP00000365588:p.Gly787Arg		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.G787R	ENST00000376406.3	37	c.2359	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	c	12.62	1.992968	0.35131	0.0	0.001846	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02890	4.12	4.66	-3.41	0.04839	.	.	.	.	.	T	0.00875	0.0029	L	0.43152	1.355	0.09310	N	1	P	0.39480	0.675	B	0.37304	0.246	T	0.45352	-0.9267	9	0.36615	T	0.2	9.274	5.4074	0.16328	0.1711:0.5551:0.1664:0.1073	.	787	Q14676	MDC1_HUMAN	R	787	ENSP00000365588:G787R	ENSP00000365588:G787R	G	-	1	0	MDC1	30783976	0.000000	0.05858	0.000000	0.03702	0.751000	0.42716	0.016000	0.13377	-0.404000	0.07610	-0.516000	0.04426	GGA	MDC1	-	NULL	ENSG00000137337		0.527	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0.00	100	0	C	NM_014641		30675997	-1	tier1	rs148637924	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	48.54	52	50	SNP	0.000	T
MDH1B	130752	genome.wustl.edu	37	2	207613753	207613753	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:207613753A>T	ENST00000374412.3	-	7	1482	c.1207T>A	c.(1207-1209)Ttg>Atg	p.L403M	MDH1B_ENST00000449792.1_Missense_Mutation_p.L305M|MDH1B_ENST00000392214.2_Missense_Mutation_p.L190M|MDH1B_ENST00000454776.2_Missense_Mutation_p.L403M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	403					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CCTTCACTCAATATTCCTAAA	0.408																																					Pancreas(76;29 1355 28675 37177 51207)												0													103.0	95.0	98.0					2																	207613753		2203	4300	6503	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1207T>A	2.37:g.207613753A>T	ENSP00000363533:p.Leu403Met		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.L403M	ENST00000374412.3	37	c.1207	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	A	7.883	0.730735	0.15507	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.68025	-0.3;-0.3;-0.3;2.87	5.75	-11.5	0.00074	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.487586	0.20912	N	0.083447	T	0.41811	0.1175	N	0.25485	0.75	0.09310	N	1	B;B	0.25235	0.099;0.121	B;B	0.32022	0.085;0.139	T	0.22312	-1.0220	10	0.27082	T	0.32	-5.6931	9.0454	0.36343	0.1695:0.0:0.5026:0.3279	.	403;403	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	M	403;305;403;190	ENSP00000363533:L403M;ENSP00000416577:L305M;ENSP00000389916:L403M;ENSP00000376049:L190M	ENSP00000363533:L403M	L	-	1	2	MDH1B	207321998	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-1.706000	0.01895	-1.745000	0.01337	-0.297000	0.09499	TTG	MDH1B	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	ENSG00000138400		0.408	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2		0.00	49	0	A	NM_001039845		207613753	-1			no_errors	ENST00000374412	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.001	T
MEFV	4210	genome.wustl.edu	37	16	3299561	3299561	+	Missense_Mutation	SNP	C	C	T	rs144998416		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:3299561C>T	ENST00000219596.1	-	3	1169	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MEFV_ENST00000536379.1_Missense_Mutation_p.R166H|MEFV_ENST00000541159.1_Missense_Mutation_p.R166H|MEFV_ENST00000339854.4_Missense_Mutation_p.R197H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	377					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R377H(1)|p.R166H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CTTCAGGTGGCGCTTACACTG	0.647																																																	2	Substitution - Missense(2)	breast(2)						C	HIS/ARG,HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	53.0	47.0	49.0		1130,497	2.4	0.9	16	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging,possibly-damaging	377/782,166/446	3299561	2,12992	2197	4300	6497	SO:0001583	missense	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1130G>A	16.37:g.3299561C>T	ENSP00000219596:p.Arg377His		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.R377H	ENST00000219596.1	37	c.1130	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892888	0.17613	4.55E-4	0.0	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.35	2.37	0.29283	Zinc finger, B-box (3);	0.239831	0.30134	N	0.010337	T	0.27866	0.0686	L	0.37466	1.105	0.09310	N	1	P	0.36199	0.543	B	0.34346	0.18	T	0.12502	-1.0545	10	0.48119	T	0.1	-6.4133	5.7348	0.18061	0.0:0.6702:0.1599:0.1699	.	377	O15553	MEFV_HUMAN	H	377;377;197;166;166;166	ENSP00000219596:R377H;ENSP00000339639:R197H;ENSP00000438711:R166H;ENSP00000445079:R166H	ENSP00000219596:R377H	R	-	2	0	MEFV	3239562	0.000000	0.05858	0.928000	0.36995	0.031000	0.12232	0.044000	0.13992	0.506000	0.28125	-0.740000	0.03531	CGC	MEFV	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000103313		0.647	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	-	0.00	80	0	C	NM_000243		3299561	-1	tier1	rs144998416	no_errors	ENST00000219596	ensembl	human	known	74_37	missense	32.20	40	19	SNP	0.002	T
MEGF6	1953	genome.wustl.edu	37	1	3413291	3413291	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:3413291C>T	ENST00000356575.4	-	29	3896	c.3670G>A	c.(3670-3672)Ggg>Agg	p.G1224R	MEGF6_ENST00000294599.4_Missense_Mutation_p.G989R	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1224	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGGAGCCCCCGTTGAGACAC	0.687																																					Ovarian(73;978 3658)												0													15.0	20.0	18.0					1																	3413291		1962	4107	6069	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3670G>A	1.37:g.3413291C>T	ENSP00000348982:p.Gly1224Arg		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G1224R	ENST00000356575.4	37	c.3670	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869621	0.33069	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.78003	-1.14;-1.14	4.25	4.25	0.50352	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87767	0.6260	H	0.95574	3.69	0.45035	D	0.998054	P;D	0.54601	0.944;0.967	B;P	0.50270	0.433;0.636	D	0.91879	0.5514	10	0.72032	D	0.01	-26.754	15.4127	0.74941	0.0:1.0:0.0:0.0	.	1224;989	O75095;O75095-2	MEGF6_HUMAN;.	R	989;1224	ENSP00000294599:G989R;ENSP00000348982:G1224R	ENSP00000294599:G989R	G	-	1	0	MEGF6	3403151	0.001000	0.12720	0.022000	0.16811	0.864000	0.49448	0.423000	0.21313	2.209000	0.71365	0.655000	0.94253	GGG	MEGF6	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin	ENSG00000162591		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0.00	35	0	C	NM_001409		3413291	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	66.67	10	20	SNP	0.942	T
METAP2	10988	genome.wustl.edu	37	12	95877035	95877037	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:95877035_95877037delAAG	ENST00000323666.5	+	3	533_535	c.304_306delAAG	c.(304-306)aagdel	p.K106del	METAP2_ENST00000261220.9_Intron|METAP2_ENST00000550777.1_In_Frame_Del_p.K70del|METAP2_ENST00000551840.1_In_Frame_Del_p.K105del|METAP2_ENST00000546753.1_In_Frame_Del_p.K106del	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						gaagaagaaaaagaagaagaaga	0.389																																																	0																																										SO:0001651	inframe_deletion	0			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.304_306delAAG	12.37:g.95877044_95877046delAAG	ENSP00000325312:p.Lys106del			In_Frame_Del	DEL	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	p.K105in_frame_del	ENST00000323666.5	37	c.304_306	CCDS9052.1	12																																																																																			METAP2	-	NULL	ENSG00000111142		0.389	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METAP2	HGNC	protein_coding	OTTHUMT00000408296.1		0.00	51	0	AAG	NM_006838		95877037	+1	tier1		no_errors	ENST00000323666	ensembl	human	known	74_37	in_frame_del	5.71	33	2	DEL	1.000:1.000:1.000	-
GAB1	2549	genome.wustl.edu	37	4	144264666	144264666	+	Intron	SNP	C	C	T	rs571933906	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:144264666C>T	ENST00000262994.4	+	1	374				MIR3139_ENST00000579145.1_RNA|GAB1_ENST00000262995.4_Intron	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1						activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					aaacaggtatcgcaggagctt	0.498													C|||	2	0.000399361	0.0	0.0	5008	,	,		17178	0.002		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.72+6253C>T	4.37:g.144264666C>T			A8K152|Q4W5G2|Q6P1W2	RNA	SNP	-	NULL	ENST00000262994.4	37	NULL	CCDS3759.1	4																																																																																			MIR3139	-	-	ENSG00000265623		0.498	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR3139	HGNC	protein_coding	OTTHUMT00000364998.1	-	0.00	63	0	C	NM_002039		144264666	+1	tier1	-	no_errors	ENST00000579145	ensembl	human	known	74_37	rna	27.54	49	19	SNP	0.001	T
MMP16	4325	genome.wustl.edu	37	8	89339336	89339336	+	Missense_Mutation	SNP	C	C	G	rs145799922		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:89339336C>G	ENST00000286614.6	-	1	381	c.100G>C	c.(100-102)Gtc>Ctc	p.V34L	RP11-586K2.1_ENST00000520849.1_RNA|MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000521433.1_RNA|RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	34					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GTTCCGCAGACTGTAGCACAT	0.493																																																	0													153.0	131.0	139.0					8																	89339336		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.100G>C	8.37:g.89339336C>G	ENSP00000286614:p.Val34Leu		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.V34L	ENST00000286614.6	37	c.100	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595347	0.46318	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.37752	1.18;1.18	5.58	5.58	0.84498	.	0.493853	0.22191	N	0.063362	T	0.20618	0.0496	N	0.08118	0	0.41206	D	0.986401	B;B	0.29988	0.264;0.0	B;B	0.28011	0.085;0.0	T	0.10268	-1.0637	10	0.10111	T	0.7	.	17.7585	0.88457	0.0:1.0:0.0:0.0	.	34;34	P51512-2;P51512	.;MMP16_HUMAN	L	34;51	ENSP00000286614:V34L;ENSP00000429147:V51L	ENSP00000286614:V34L	V	-	1	0	MMP16	89408452	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.505000	0.53356	2.621000	0.88768	0.563000	0.77884	GTC	MMP16	-	pirsf_Pept_M10A_Metazoans	ENSG00000156103		0.493	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0.00	41	0	C	NM_005941		89339336	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	26.53	36	13	SNP	1.000	G
MND1	84057	genome.wustl.edu	37	4	154279649	154279649	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:154279649C>T	ENST00000504860.1	+	3	149	c.106C>T	c.(106-108)Ctt>Ttt	p.L36F	AC013477.1_ENST00000578990.1_RNA|MND1_ENST00000240488.3_Missense_Mutation_p.L51F					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AAAAGAAGTCCTTCAAAGCTT	0.343																																																	0													130.0	129.0	129.0					4																	154279649		2203	4300	6503	SO:0001583	missense	0			AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.106C>T	4.37:g.154279649C>T	ENSP00000422933:p.Leu36Phe			Missense_Mutation	SNP	pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1	p.L51F	ENST00000504860.1	37	c.151		4	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318797	0.60524	.	.	ENSG00000121211	ENST00000240488;ENST00000508731;ENST00000504860	.	.	.	5.7	5.7	0.88788	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.90019	3.08	0.58432	D	0.999997	D	0.59767	0.986	D	0.65140	0.932	T	0.82772	-0.0292	9	0.62326	D	0.03	-13.1617	10.2927	0.43605	0.0:0.8535:0.0:0.1465	.	51	Q9BWT6	MND1_HUMAN	F	51;36;36	.	ENSP00000240488:L51F	L	+	1	0	MND1	154499099	0.995000	0.38212	0.974000	0.42286	0.977000	0.68977	3.001000	0.49488	2.682000	0.91365	0.555000	0.69702	CTT	MND1	-	pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1	ENSG00000121211		0.343	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	MND1	HGNC	protein_coding	OTTHUMT00000365195.1	-	0.00	37	0	C	NM_032117		154279649	+1	tier1	-	no_errors	ENST00000240488	ensembl	human	known	74_37	missense	55.88	15	19	SNP	0.996	T
MPHOSPH9	10198	genome.wustl.edu	37	12	123637124	123637124	+	IGR	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:123637124G>T	ENST00000606320.1	-	0	6351				MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.H1015N			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GGTACATAATGTCCAGCAAAT	0.358																																																	0																																										SO:0001628	intergenic_variant	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849		12.37:g.123637124G>T			A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.H1015N	ENST00000606320.1	37	c.3043		12	.	.	.	.	.	.	.	.	.	.	G	9.708	1.156219	0.21454	.	.	ENSG00000051825	ENST00000541603;ENST00000302349	T;T	0.46819	0.86;1.54	4.09	2.24	0.28232	.	.	.	.	.	T	0.43942	0.1270	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41233	-0.9520	6	0.87932	D	0	.	4.9197	0.13864	0.1079:0.0:0.6825:0.2096	.	.	.	.	N	193;1015	ENSP00000446362:H193N;ENSP00000303597:H1015N	ENSP00000303597:H1015N	H	-	1	0	MPHOSPH9	122203077	0.000000	0.05858	0.004000	0.12327	0.590000	0.36582	0.237000	0.17985	0.670000	0.31165	0.655000	0.94253	CAT	MPHOSPH9	-	NULL	ENSG00000051825		0.358	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	-	0.00	24	0	G			123637124	-1	tier1	-	no_errors	ENST00000302349	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.006	T
MRC2	9902	genome.wustl.edu	37	17	60742136	60742136	+	Missense_Mutation	SNP	G	G	C	rs375584608		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:60742136G>C	ENST00000303375.5	+	2	748	c.346G>C	c.(346-348)Gca>Cca	p.A116P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	116	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGACCGGGAAGCACTGAATCT	0.607																																																	0													86.0	75.0	79.0					17																	60742136		2203	4300	6503	SO:0001583	missense	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.346G>C	17.37:g.60742136G>C	ENSP00000307513:p.Ala116Pro		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.A116P	ENST00000303375.5	37	c.346	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012512	0.35511	.	.	ENSG00000011028	ENST00000303375	T	0.28895	1.59	5.23	5.23	0.72850	Ricin B-related lectin (1);Ricin B lectin (2);	0.239956	0.43579	D	0.000545	T	0.18299	0.0439	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10064	-1.0646	10	0.25751	T	0.34	-13.4889	7.1942	0.25843	0.0855:0.0:0.6965:0.2181	.	116	Q9UBG0	MRC2_HUMAN	P	116	ENSP00000307513:A116P	ENSP00000307513:A116P	A	+	1	0	MRC2	58095868	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.052000	0.49893	2.450000	0.82876	0.561000	0.74099	GCA	MRC2	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000011028		0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1		0.00	24	0	G			60742136	+1			no_errors	ENST00000303375	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	C
MRPL16	54948	genome.wustl.edu	37	11	59574020	59574020	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:59574020C>T	ENST00000300151.4	-	4	769	c.556G>A	c.(556-558)Gca>Aca	p.A186T		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	186					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						GCCTTTGCTGCGAAGGGCAAC	0.517																																																	0													157.0	147.0	151.0					11																	59574020		2201	4295	6496	SO:0001583	missense	0			AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.556G>A	11.37:g.59574020C>T	ENSP00000300151:p.Ala186Thr		Q9BYD0|Q9HB70	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16	p.A186T	ENST00000300151.4	37	c.556	CCDS7976.1	11	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658178	0.47467	.	.	ENSG00000166902	ENST00000300151;ENST00000534340	T	0.21734	1.99	6.07	0.697	0.18081	Ribosomal protein L10e/L16 (2);	0.394084	0.33813	N	0.004527	T	0.08313	0.0207	N	0.04880	-0.145	0.23371	N	0.997812	B	0.02656	0.0	B	0.08055	0.003	T	0.30387	-0.9980	10	0.28530	T	0.3	-0.7148	7.2034	0.25893	0.0669:0.3803:0.443:0.1098	.	186	Q9NX20	RM16_HUMAN	T	186;83	ENSP00000300151:A186T	ENSP00000300151:A186T	A	-	1	0	MRPL16	59330596	1.000000	0.71417	0.226000	0.23910	0.972000	0.66771	1.899000	0.39818	0.144000	0.18951	-0.147000	0.13772	GCA	MRPL16	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16	ENSG00000166902		0.517	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL16	HGNC	protein_coding	OTTHUMT00000394521.1	-	0.00	61	0	C	NM_017840		59574020	-1	tier1	-	no_errors	ENST00000300151	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.998	T
MRPL3	11222	genome.wustl.edu	37	3	131217123	131217124	+	Splice_Site	INS	-	-	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:131217123_131217124insA	ENST00000264995.3	-	4	517		c.e4-2		MRPL3_ENST00000425847.2_Splice_Site|MRPL3_ENST00000506946.1_Splice_Site	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTCTTGTACCTAAAAAAACAAA	0.347																																																	0																																										SO:0001630	splice_region_variant	0			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.370-2->T	3.37:g.131217130_131217130dupA			Q6IBT2	Splice_Site	INS	-	e4-2	ENST00000264995.3	37	c.370-3_370-2	CCDS3071.1	3																																																																																			MRPL3	-	-	ENSG00000114686		0.347	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3		0.00	46	0	-	NM_007208	Intron	131217124	-1	tier1		no_errors	ENST00000264995	ensembl	human	known	74_37	splice_site_ins	9.09	20	2	INS	0.998:0.911	A
MSH6	2956	genome.wustl.edu	37	2	48026147	48026147	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:48026147C>T	ENST00000234420.5	+	4	1177	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	MSH6_ENST00000540021.1_Missense_Mutation_p.A212V|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.A40V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	342					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTTCTCTGCCCCTCAAAAT	0.443			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											111.0	117.0	115.0					2																	48026147		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1025C>T	2.37:g.48026147C>T	ENSP00000234420:p.Ala342Val		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.A342V	ENST00000234420.5	37	c.1025	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322755	0.41096	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87966	-1.97;-2.07;-2.32	4.41	1.54	0.23209	.	0.179686	0.48286	N	0.000183	D	0.83514	0.5271	M	0.70275	2.135	0.80722	D	1	B;B;B	0.12630	0.006;0.001;0.0	B;B;B	0.15052	0.006;0.004;0.012	T	0.76383	-0.2979	10	0.32370	T	0.25	-1.2921	9.6738	0.40028	0.0:0.7647:0.0:0.2353	.	212;342;342	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	342;340;212;40	ENSP00000234420:A342V;ENSP00000446475:A212V;ENSP00000438580:A40V	ENSP00000234420:A342V	A	+	2	0	MSH6	47879651	0.997000	0.39634	0.998000	0.56505	0.488000	0.33401	3.590000	0.53979	0.500000	0.27991	0.655000	0.94253	GCC	MSH6	-	pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.443	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0.00	37	0	C	NM_000179		48026147	+1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.996	T
MTSS1	9788	genome.wustl.edu	37	8	125716370	125716370	+	Splice_Site	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:125716370C>T	ENST00000518547.1	-	2	608		c.e2+1		MTSS1_ENST00000378017.3_Splice_Site|MTSS1_ENST00000325064.5_Splice_Site|MTSS1_ENST00000354184.4_Splice_Site	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTCTACTTACCGAAGCTGGG	0.453																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												0													168.0	144.0	152.0					8																	125716370		2203	4300	6503	SO:0001630	splice_region_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.134+1G>A	8.37:g.125716370C>T			J3KNK6|Q8TCA2|Q96RX2	Splice_Site	SNP	-	e2+1	ENST00000518547.1	37	c.134+1	CCDS6353.1	8	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686895	0.88639	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000522162	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9474	0.97186	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTSS1	125785551	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.497000	0.73674	2.821000	0.97095	0.484000	0.47621	.	MTSS1	-	-	ENSG00000170873		0.453	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	-	0.00	39	0	C	NM_014751	Intron	125716370	-1	tier1	-	no_errors	ENST00000518547	ensembl	human	known	74_37	splice_site	56.67	13	17	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77739439	77739439	+	Missense_Mutation	SNP	A	A	G	rs373012467		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr13:77739439A>G	ENST00000544440.2	-	42	6331	c.6314T>C	c.(6313-6315)aTt>aCt	p.I2105T	MYCBP2_ENST00000407578.2_Missense_Mutation_p.I2143T|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I2105T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATATCCAATTGCAAAACA	0.353																																																	0								A	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	118.0	117.0	117.0		6428	5.5	1.0	13		117	0,8600		0,0,4300	no	missense	MYCBP2	NM_015057.4	89	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	2143/4679	77739439	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6314T>C	13.37:g.77739439A>G	ENSP00000444596:p.Ile2105Thr			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.I2143T	ENST00000544440.2	37	c.6428		13	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341307	0.41498	2.27E-4	0.0	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.59;1.58;1.59	5.53	5.53	0.82687	.	0.063319	0.64402	D	0.000005	T	0.15912	0.0383	N	0.03608	-0.345	0.45899	D	0.998742	B	0.27498	0.18	B	0.22753	0.041	T	0.09662	-1.0664	10	0.36615	T	0.2	.	15.6712	0.77279	1.0:0.0:0.0:0.0	.	2105	O75592	MYCB2_HUMAN	T	2105;2143;2105	ENSP00000349892:I2105T;ENSP00000384288:I2143T;ENSP00000444596:I2105T	ENSP00000349892:I2105T	I	-	2	0	MYCBP2	76637440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.096000	0.63516	0.528000	0.53228	ATT	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.353	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0.00	35	0	A	NM_015057		77739439	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	27.03	54	20	SNP	1.000	G
MYOM1	8736	genome.wustl.edu	37	18	3134771	3134771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr18:3134771G>T	ENST00000356443.4	-	16	2594	c.2261C>A	c.(2260-2262)tCa>tAa	p.S754*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.S754*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.S754*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	754	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.S754L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACTACCACTGAGGTGTCTGT	0.488																																																	1	Substitution - Missense(1)	lung(1)											108.0	104.0	105.0					18																	3134771		1878	4121	5999	SO:0001587	stop_gained	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2261C>A	18.37:g.3134771G>T	ENSP00000348821:p.Ser754*		Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S754*	ENST00000356443.4	37	c.2261	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	G	42	9.628664	0.99223	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	754	.	ENSP00000261606:S754X	S	-	2	0	MYOM1	3124771	1.000000	0.71417	0.984000	0.44739	0.596000	0.36781	9.865000	0.99609	2.694000	0.91930	0.650000	0.86243	TCA	MYOM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000101605		0.488	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2		0.00	51	0	G	NM_003803		3134771	-1			no_errors	ENST00000356443	ensembl	human	known	74_37	nonsense	5.88	48	3	SNP	1.000	T
NAPSA	9476	genome.wustl.edu	37	19	50861893	50861893	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:50861893C>T	ENST00000253719.2	-	9	1388	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	394					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CCCACCCGGGCGCTGCTCTTC	0.692																																																	0													16.0	18.0	17.0					19																	50861893		2197	4295	6492	SO:0001583	missense	0			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1180G>A	19.37:g.50861893C>T	ENSP00000253719:p.Ala394Thr		Q8WWD9	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.A394T	ENST00000253719.2	37	c.1180	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277738	0.59758	.	.	ENSG00000131400	ENST00000253719	T	0.53206	0.63	3.24	0.803	0.18691	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.156761	0.30126	N	0.010358	T	0.37892	0.1020	L	0.41906	1.305	0.09310	N	0.999999	D	0.53151	0.958	P	0.46940	0.532	T	0.26430	-1.0103	10	0.66056	D	0.02	.	5.105	0.14779	0.0:0.6411:0.2234:0.1354	.	394	O96009	NAPSA_HUMAN	T	394	ENSP00000253719:A394T	ENSP00000253719:A394T	A	-	1	0	NAPSA	55553705	0.033000	0.19621	0.003000	0.11579	0.005000	0.04900	0.145000	0.16157	0.126000	0.18424	0.313000	0.20887	GCC	NAPSA	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000131400		0.692	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1	-	0.00	64	0	C	NM_004851		50861893	-1	tier1	-	no_errors	ENST00000253719	ensembl	human	known	74_37	missense	50.00	38	38	SNP	0.295	T
NBPF3	84224	genome.wustl.edu	37	1	21807427	21807427	+	Missense_Mutation	SNP	G	G	T	rs116579083		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:21807427G>T	ENST00000318249.5	+	12	1736	c.1386G>T	c.(1384-1386)atG>atT	p.M462I	NBPF3_ENST00000454000.2_Missense_Mutation_p.M392I|NBPF3_ENST00000318220.6_Missense_Mutation_p.M406I|NBPF3_ENST00000342104.5_Missense_Mutation_p.M450I	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	462	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.M462I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTGCAGGAATGAAAAAGGACC	0.478																																																	1	Substitution - Missense(1)	skin(1)											90.0	130.0	116.0					1																	21807427		2186	4299	6485	SO:0001583	missense	0			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1386G>T	1.37:g.21807427G>T	ENSP00000316782:p.Met462Ile		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.M462I	ENST00000318249.5	37	c.1386	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	0	-2.689380	0.00100	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.02552	4.25;4.52;4.51;4.53;4.55	0.573	-1.15	0.09709	DUF1220 (1);	.	.	.	.	T	0.00524	0.0017	N	0.00082	-2.215	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34254	-0.9836	8	0.06891	T	0.86	.	.	.	.	.	392;450;462	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	I	392;406;462;450;406	ENSP00000415711:M392I;ENSP00000316739:M406I;ENSP00000316782:M462I;ENSP00000340336:M450I;ENSP00000391865:M406I	ENSP00000316739:M406I	M	+	3	0	NBPF3	21680014	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-1.864000	0.01650	-2.598000	0.00452	-2.245000	0.00285	ATG	NBPF3	-	NULL	ENSG00000142794		0.478	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding			0.00	30	0	G	NM_032264		21807427	+1			no_errors	ENST00000318249	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	T
NCBP1	4686	genome.wustl.edu	37	9	100407403	100407403	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:100407403G>A	ENST00000375147.3	+	5	642	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	129	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CAACAGGTCCGTTTTTTATCT	0.343																																					Ovarian(36;879 898 2893 44212 50307)												0													141.0	133.0	136.0					9																	100407403		2203	4300	6503	SO:0001583	missense	0			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.386G>A	9.37:g.100407403G>A	ENSP00000364289:p.Arg129His		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R129H	ENST00000375147.3	37	c.386	CCDS6728.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110470	0.77210	.	.	ENSG00000136937	ENST00000375147	T	0.31769	1.48	5.64	3.77	0.43336	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.050938	0.85682	D	0.000000	T	0.41903	0.1179	M	0.76002	2.32	0.80722	D	1	D	0.53312	0.959	P	0.48552	0.581	T	0.50583	-0.8811	10	0.66056	D	0.02	-15.3136	13.1198	0.59318	0.1394:0.0:0.8606:0.0	.	129	Q09161	NCBP1_HUMAN	H	129	ENSP00000364289:R129H	ENSP00000364289:R129H	R	+	2	0	NCBP1	99447224	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.576000	0.82467	1.532000	0.49169	0.650000	0.86243	CGT	NCBP1	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000136937		0.343	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	-	0.00	96	0	G	NM_002486		100407403	+1	tier1	-	no_errors	ENST00000375147	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	A
NCOA6	23054	genome.wustl.edu	37	20	33345407	33345407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:33345407G>A	ENST00000374796.2	-	8	3714	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q382*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	382	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTGAGGCTTGCTGGCTGCCA	0.587																																																	0													95.0	89.0	91.0					20																	33345407		2203	4300	6503	SO:0001587	stop_gained	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1144C>T	20.37:g.33345407G>A	ENSP00000363929:p.Gln382*		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	NULL	p.Q382*	ENST00000374796.2	37	c.1144	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	54	23.312878	0.99954	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-3.5116	19.4272	0.94746	0.0:0.0:1.0:0.0	.	.	.	.	X	382;382;339	.	ENSP00000351894:Q382X	Q	-	1	0	NCOA6	32809068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.229000	0.95273	2.590000	0.87494	0.467000	0.42956	CAA	NCOA6	-	NULL	ENSG00000198646		0.587	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2		0.00	64	0	G	NM_014071		33345407	-1			no_errors	ENST00000359003	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	A
NES	10763	genome.wustl.edu	37	1	156646866	156646866	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:156646866C>T	ENST00000368223.3	-	1	323	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	64	Coil 1B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACGAGGGCCCGCAGGGCCGC	0.721																																																	0													4.0	6.0	5.0					1																	156646866		1873	3858	5731	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.191G>A	1.37:g.156646866C>T	ENSP00000357206:p.Arg64Gln		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.R64Q	ENST00000368223.3	37	c.191	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497155	0.64186	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.92595	-3.07	4.2	4.2	0.49525	Filament (1);	.	.	.	.	D	0.94932	0.8361	M	0.80982	2.52	0.50813	D	0.999896	D	0.89917	1.0	D	0.66351	0.943	D	0.95508	0.8583	9	0.72032	D	0.01	.	15.2575	0.73596	0.0:1.0:0.0:0.0	.	64	P48681	NEST_HUMAN	Q	64	ENSP00000357206:R64Q	ENSP00000255024:R64Q	R	-	2	0	NES	154913490	1.000000	0.71417	0.246000	0.24233	0.242000	0.25591	2.390000	0.44416	2.129000	0.65627	0.462000	0.41574	CGG	NES	-	pfam_IF	ENSG00000132688		0.721	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0.00	34	0	C	NM_006617		156646866	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.987	T
NFATC4	4776	genome.wustl.edu	37	14	24838902	24838902	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr14:24838902delG	ENST00000250373.4	+	2	439	c.298delG	c.(298-300)gggfs	p.G101fs	NFATC4_ENST00000554050.1_Frame_Shift_Del_p.G101fs|NFATC4_ENST00000413692.2_Frame_Shift_Del_p.G164fs|NFATC4_ENST00000557451.1_Frame_Shift_Del_p.G31fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.G114fs|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.G114fs|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.G133fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.G164fs|NFATC4_ENST00000556169.1_Frame_Shift_Del_p.G89fs|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.G133fs|NFATC4_ENST00000553879.1_Frame_Shift_Del_p.G31fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.G133fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.G114fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.G101fs|NFATC4_ENST00000555453.1_Frame_Shift_Del_p.G89fs|NFATC4_ENST00000422617.3_Frame_Shift_Del_p.G89fs|NFATC4_ENST00000554344.1_Frame_Shift_Del_p.G31fs|NFATC4_ENST00000554661.1_Frame_Shift_Del_p.G31fs	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	101	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGGACCAGGAgggggtgctgg	0.716																																																	0													14.0	17.0	16.0					14																	24838902		2179	4278	6457	SO:0001589	frameshift_variant	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.298delG	14.37:g.24838902delG	ENSP00000250373:p.Gly101fs		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Frame_Shift_Del	DEL	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.G164fs	ENST00000250373.4	37	c.487	CCDS9629.1	14																																																																																			NFATC4	-	NULL	ENSG00000100968		0.716	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6		0.00	18	0	G	NM_004554		24838902	+1	tier1		no_errors	ENST00000413692	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.035	-
NFATC4	4776	genome.wustl.edu	37	14	24841738	24841738	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr14:24841738C>T	ENST00000250373.4	+	3	1429	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	NFATC4_ENST00000554050.1_Missense_Mutation_p.R430W|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000413692.2_Missense_Mutation_p.R493W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R360W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R443W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R443W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R462W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R493W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R418W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R462W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R360W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R462W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R443W|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000553708.1_Missense_Mutation_p.R430W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R418W|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.R418W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R360W|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000554661.1_Missense_Mutation_p.R360W	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	430	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCCACCACCGGGCCCACTA	0.622																																																	0													47.0	48.0	47.0					14																	24841738		2203	4300	6503	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1288C>T	14.37:g.24841738C>T	ENSP00000250373:p.Arg430Trp		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.R493W	ENST00000250373.4	37	c.1477	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846063	0.51164	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554779;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;0.64;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.01	2.09	0.27110	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.060819	0.64402	D	0.000006	D	0.83741	0.5320	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.956;0.97;1.0;0.979;1.0;1.0;0.979;0.992;0.992;0.992;1.0;1.0;0.995;1.0;1.0	T	0.82989	-0.0183	10	0.87932	D	0	-7.5645	9.0518	0.36380	0.2966:0.5601:0.1433:0.0	.	418;418;462;462;443;443;443;493;493;418;360;462;407;493;430	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	493;493;443;443;443;462;462;462;430;122;430;430;360;360;360;418;360;418;418	ENSP00000388910:R493W;ENSP00000452039:R493W;ENSP00000451224:R443W;ENSP00000450644:R443W;ENSP00000388668:R443W;ENSP00000439350:R462W;ENSP00000452270:R462W;ENSP00000451502:R462W;ENSP00000451151:R430W;ENSP00000451992:R122W;ENSP00000250373:R430W;ENSP00000450590:R430W;ENSP00000452349:R360W;ENSP00000450469:R360W;ENSP00000450733:R360W;ENSP00000451454:R418W;ENSP00000451284:R360W;ENSP00000396788:R418W;ENSP00000450686:R418W	ENSP00000250373:R430W	R	+	1	2	NFATC4	23911578	0.993000	0.37304	1.000000	0.80357	0.992000	0.81027	0.409000	0.21082	0.259000	0.21709	-0.169000	0.13324	CGG	NFATC4	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000100968		0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	-	0.00	41	0	C	NM_004554		24841738	+1	tier1	-	no_errors	ENST00000413692	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	T
NIPBL	25836	genome.wustl.edu	37	5	37020560	37020560	+	Splice_Site	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:37020560G>T	ENST00000282516.8	+	26	5509		c.e26-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.?(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCTTTCCAGTTTTCTCGTA	0.328																																																	2	Unknown(2)	kidney(2)											66.0	61.0	63.0					5																	37020560		2203	4297	6500	SO:0001630	splice_region_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5011-1G>T	5.37:g.37020560G>T			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	-	e25-1	ENST00000282516.8	37	c.5011-1	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589670	0.86851	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5885	0.95498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37056317	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.476000	0.97823	2.647000	0.89833	0.585000	0.79938	.	NIPBL	-	-	ENSG00000164190		0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1		0.00	59	0	G	NM_015384	Intron	37020560	+1			no_errors	ENST00000282516	ensembl	human	known	74_37	splice_site	5.36	53	3	SNP	1.000	T
NKX2-4	644524	genome.wustl.edu	37	20	21377967	21377967	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:21377967T>C	ENST00000351817.4	-	1	699	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	24					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						GAACTTCTTGTAGGTCTCCTC	0.731																																																	0													10.0	11.0	10.0					20																	21377967		1859	4052	5911	SO:0001583	missense	0				CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.71A>G	20.37:g.21377967T>C	ENSP00000345147:p.Tyr24Cys		Q5VZV8	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.Y24C	ENST00000351817.4	37	c.71	CCDS42855.1	20	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334735	0.60853	.	.	ENSG00000125816	ENST00000351817	T	0.73681	-0.77	2.6	1.4	0.22301	.	1.632260	0.04832	U	0.438935	T	0.81148	0.4762	M	0.75085	2.285	0.39072	D	0.960735	D	0.71674	0.998	P	0.54270	0.747	T	0.70171	-0.4945	10	0.56958	D	0.05	.	6.7986	0.23738	0.0:0.0:0.2397:0.7603	.	24	Q9H2Z4	NKX24_HUMAN	C	24	ENSP00000345147:Y24C	ENSP00000345147:Y24C	Y	-	2	0	NKX2-4	21325967	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.937000	0.56575	0.203000	0.20529	0.317000	0.21355	TAC	NKX2-4	-	NULL	ENSG00000125816		0.731	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-4	HGNC	protein_coding	OTTHUMT00000078270.2	-	0.00	24	0	T			21377967	-1	tier1	-	no_errors	ENST00000351817	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	C
NLRP5	126206	genome.wustl.edu	37	19	56538278	56538278	+	Splice_Site	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:56538278G>T	ENST00000390649.3	+	7	679		c.e7-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5						cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTGACTCCAGGACATGGAGG	0.512																																																	0													38.0	38.0	38.0					19																	56538278		1685	3223	4908	SO:0001630	splice_region_variant	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.680-1G>T	19.37:g.56538278G>T			A8MTY4|Q86W29	Splice_Site	SNP	-	e7-1	ENST00000390649.3	37	c.680-1	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	G	5.758	0.324307	0.10900	.	.	ENSG00000171487	ENST00000390649	.	.	.	2.72	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.21579	N	0.99963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3999	0.21632	0.0:0.0:0.6104:0.3896	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP5	61230090	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.345000	0.19979	0.617000	0.30160	0.655000	0.94253	.	NLRP5	-	-	ENSG00000171487		0.512	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	-	0.00	26	0	G	NM_153447	Intron	56538278	+1	tier1	-	no_errors	ENST00000390649	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	0.001	T
NPEPPS	9520	genome.wustl.edu	37	17	45608675	45608675	+	Silent	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:45608675G>T	ENST00000322157.4	+	1	246	c.9G>T	c.(7-9)ctG>ctT	p.L3L	NPEPPS_ENST00000544660.1_5'Flank|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000530173.1_Intron	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	3					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GGATGTGGCTGGCAGCTGCCG	0.761																																																	0													1.0	1.0	1.0					17																	45608675		56	185	241	SO:0001819	synonymous_variant	0			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.9G>T	17.37:g.45608675G>T			B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L3	ENST00000322157.4	37	c.9	CCDS45721.1	17																																																																																			NPEPPS	-	NULL	ENSG00000141279		0.761	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	-	0.00	25	0	G	NM_006310		45608675	+1	tier1	-	no_errors	ENST00000322157	ensembl	human	known	74_37	silent	18.18	45	10	SNP	1.000	T
NPFFR1	64106	genome.wustl.edu	37	10	72015106	72015106	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:72015106C>T	ENST00000277942.6	-	4	899	c.900G>A	c.(898-900)gcG>gcA	p.A300A		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	300					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						GCAGCTGCGGCGCGCTGAGCT	0.642																																																	0													10.0	14.0	13.0					10																	72015106		2139	4222	6361	SO:0001819	synonymous_variant	0			AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	17425	protein-coding gene	gene with protein product	"""neuropeptide FF 1"""	607448	"""G protein-coupled receptor 147"""	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.900G>A	10.37:g.72015106C>T			A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_1,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A300	ENST00000277942.6	37	c.900	CCDS53539.1	10																																																																																			NPFFR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000148734		0.642	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NPFFR1	HGNC	protein_coding	OTTHUMT00000048504.2	-	0.00	13	0	C	NM_022146		72015106	-1	tier1	-	no_errors	ENST00000277942	ensembl	human	novel	74_37	silent	52.63	9	10	SNP	1.000	T
NUMA1	4926	genome.wustl.edu	37	11	71718357	71718357	+	Missense_Mutation	SNP	G	G	A	rs529393250		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:71718357G>A	ENST00000393695.3	-	21	5672	c.5341C>T	c.(5341-5343)Cgg>Tgg	p.R1781W	NUMA1_ENST00000351960.6_Missense_Mutation_p.R645W|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1767W	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCCTGACTCCGAGCAGGGATG	0.652			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													28.0	32.0	31.0					11																	71718357		2200	4293	6493	SO:0001583	missense	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5341C>T	11.37:g.71718357G>A	ENSP00000377298:p.Arg1781Trp			Missense_Mutation	SNP	superfamily_Prefoldin	p.R1781W	ENST00000393695.3	37	c.5341	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452332	0.84209	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.32515	1.45;1.88;1.86	4.91	4.91	0.64330	.	0.000000	0.50627	D	0.000104	T	0.43875	0.1267	L	0.29908	0.895	0.41113	D	0.985751	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.942;0.997;0.917;0.984	T	0.39078	-0.9631	10	0.72032	D	0.01	.	15.0138	0.71567	0.0:0.1429:0.857:0.0	.	1787;1767;1781;645	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	W	645;1767;1781;1330;754	ENSP00000260051:R645W;ENSP00000351851:R1767W;ENSP00000377298:R1781W	ENSP00000260051:R645W	R	-	1	2	NUMA1	71396005	0.835000	0.29415	1.000000	0.80357	0.982000	0.71751	2.624000	0.46444	2.702000	0.92279	0.655000	0.94253	CGG	NUMA1	-	NULL	ENSG00000137497		0.652	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	-	0.00	30	0	G			71718357	-1	tier1	-	no_errors	ENST00000393695	ensembl	human	known	74_37	missense	30.56	24	11	SNP	1.000	A
ODAM	54959	genome.wustl.edu	37	4	71062422	71062422	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:71062422G>A	ENST00000396094.2	+	2	113	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	22					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ATCCCACAGCGTCTCATGTCT	0.343																																																	0													65.0	60.0	61.0					4																	71062422		1826	4081	5907	SO:0001583	missense	0			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.65G>A	4.37:g.71062422G>A	ENSP00000379401:p.Arg22His		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	NULL	p.R22H	ENST00000396094.2	37	c.65	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	G	3.712	-0.059392	0.07317	.	.	ENSG00000109205	ENST00000396094	T	0.50001	0.76	5.39	-2.2	0.06994	.	.	.	.	.	T	0.31979	0.0814	L	0.38838	1.175	0.09310	N	0.999998	B	0.16396	0.017	B	0.08055	0.003	T	0.21449	-1.0245	9	0.39692	T	0.17	0.0109	6.3621	0.21435	0.5435:0.1481:0.3085:0.0	.	22	A1E959	ODAM_HUMAN	H	22	ENSP00000379401:R22H	ENSP00000379401:R22H	R	+	2	0	ODAM	71097011	0.001000	0.12720	0.007000	0.13788	0.003000	0.03518	-0.580000	0.05827	-0.341000	0.08376	-1.000000	0.02509	CGT	ODAM	-	NULL	ENSG00000109205		0.343	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1	-	0.00	58	0	G	NM_017855		71062422	+1	tier1	-	no_errors	ENST00000396094	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.005	A
ODF3L2	284451	genome.wustl.edu	37	19	464039	464039	+	Silent	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:464039C>A	ENST00000315489.4	-	4	910	c.675G>T	c.(673-675)ctG>ctT	p.L225L	ODF3L2_ENST00000382696.3_Silent_p.L189L	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	225	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						ggggccgccccAGCATGGTGA	0.721																																																	0													8.0	10.0	9.0					19																	464039		2150	4181	6331	SO:0001819	synonymous_variant	0			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.675G>T	19.37:g.464039C>A			Q3SX65|Q8N1L2	Silent	SNP	pfam_SHIPPO-rpt	p.L225	ENST00000315489.4	37	c.675	CCDS12027.1	19																																																																																			ODF3L2	-	pfam_SHIPPO-rpt	ENSG00000181781		0.721	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ODF3L2	HGNC	protein_coding	OTTHUMT00000451849.2	-	0.00	33	0	C	NM_182577		464039	-1	tier1	-	no_errors	ENST00000315489	ensembl	human	known	74_37	silent	35.00	13	7	SNP	1.000	A
OR10A4	283297	genome.wustl.edu	37	11	6898665	6898665	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:6898665C>A	ENST00000379829.2	+	1	810	c.787C>A	c.(787-789)Ccc>Acc	p.P263T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	263					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTATTTCCGACCCCAATCCAG	0.522																																																	0													173.0	142.0	152.0					11																	6898665		2201	4296	6497	SO:0001583	missense	0			AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.787C>A	11.37:g.6898665C>A	ENSP00000369157:p.Pro263Thr		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P263T	ENST00000379829.2	37	c.787	CCDS7774.1	11	.	.	.	.	.	.	.	.	.	.	c	12.00	1.805384	0.31961	.	.	ENSG00000170782	ENST00000379829	T	0.00274	8.35	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.160002	0.29767	N	0.011255	T	0.00845	0.0028	M	0.92555	3.32	0.27439	N	0.953763	D	0.57257	0.979	D	0.64410	0.925	T	0.13710	-1.0499	10	0.66056	D	0.02	.	14.5082	0.67767	0.0:1.0:0.0:0.0	.	263	Q9H209	O10A4_HUMAN	T	263	ENSP00000369157:P263T	ENSP00000369157:P263T	P	+	1	0	OR10A4	6855241	0.406000	0.25344	0.266000	0.24541	0.122000	0.20287	2.486000	0.45259	2.554000	0.86153	0.651000	0.88453	CCC	OR10A4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170782		0.522	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A4	HGNC	protein_coding	OTTHUMT00000385985.1	-	0.00	27	0	C	NM_207186		6898665	+1	tier1	-	no_errors	ENST00000379829	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.631	A
OR10K1	391109	genome.wustl.edu	37	1	158435970	158435970	+	Silent	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:158435970T>C	ENST00000289451.2	+	1	699	c.619T>C	c.(619-621)Ttg>Ctg	p.L207L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGTATTTGCCTTGGTCATTCC	0.478																																																	0													156.0	150.0	152.0					1																	158435970		2203	4300	6503	SO:0001819	synonymous_variant	0			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.619T>C	1.37:g.158435970T>C			Q6IFS2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L207	ENST00000289451.2	37	c.619	CCDS30897.1	1																																																																																			OR10K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000173285		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	-	0.00	66	0	T			158435970	+1	tier1	-	no_errors	ENST00000289451	ensembl	human	known	74_37	silent	18.46	53	12	SNP	0.211	C
OR6B2	389090	genome.wustl.edu	37	2	240969167	240969167	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:240969167C>T	ENST00000402971.2	-	1	739	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	227			R -> C (in dbSNP:rs60841887).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CGAGGGGATGCGCAGGACAGC	0.567																																																	0													46.0	52.0	50.0					2																	240969167		2122	4240	6362	SO:0001583	missense	0				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.680G>A	2.37:g.240969167C>T	ENSP00000384563:p.Arg227His		B2RPR3|Q8NGW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R227H	ENST00000402971.2	37	c.680	CCDS46559.1	2	.	.	.	.	.	.	.	.	.	.	C	1.635	-0.517879	0.04171	.	.	ENSG00000182083	ENST00000402971	T	0.00262	8.4	4.36	-3.84	0.04256	GPCR, rhodopsin-like superfamily (1);	1.017780	0.07875	N	0.968626	T	0.00144	0.0004	L	0.27944	0.81	0.09310	N	1	B	0.14438	0.01	B	0.20384	0.029	T	0.12528	-1.0544	10	0.52906	T	0.07	.	11.2971	0.49284	0.0:0.3898:0.0:0.6102	.	227	Q6IFH4	OR6B2_HUMAN	H	227	ENSP00000384563:R227H	ENSP00000384563:R227H	R	-	2	0	OR6B2	240617840	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-1.393000	0.02521	-0.848000	0.04163	-0.218000	0.12543	CGC	OR6B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182083		0.567	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	-	0.00	37	0	C	NM_001005853		240969167	-1	tier1	-	no_errors	ENST00000402971	ensembl	human	known	74_37	missense	13.95	36	6	SNP	0.000	T
OR6K6	128371	genome.wustl.edu	37	1	158725236	158725236	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:158725236C>T	ENST00000368144.2	+	1	727	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	211			P -> L (in dbSNP:rs16841017).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGATTTCACACCTGTGCTGAG	0.493																																																	0													123.0	103.0	110.0					1																	158725236		2203	4300	6503	SO:0001583	missense	0			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.631C>T	1.37:g.158725236C>T	ENSP00000357126:p.Pro211Ser		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P211S	ENST00000368144.2	37	c.631	CCDS30904.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320140	0.60634	.	.	ENSG00000180433	ENST00000368144	T	0.00202	8.56	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000536	T	0.00356	0.0011	M	0.70275	2.135	0.34839	D	0.740489	D	0.89917	1.0	D	0.97110	1.0	T	0.78244	-0.2279	10	0.87932	D	0	-12.6988	18.27	0.90065	0.0:1.0:0.0:0.0	.	211	Q8NGW6	OR6K6_HUMAN	S	211	ENSP00000357126:P211S	ENSP00000357126:P211S	P	+	1	0	OR6K6	156991860	0.078000	0.21339	0.990000	0.47175	0.979000	0.70002	1.018000	0.30002	2.848000	0.98002	0.655000	0.94253	CCT	OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000180433		0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	-	0.00	36	0	C	NM_001005184		158725236	+1	tier1	-	no_errors	ENST00000368144	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.915	T
OTC	5009	genome.wustl.edu	37	X	38268008	38268008	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrX:38268008A>T	ENST00000039007.4	+	7	829	c.677A>T	c.(676-678)gAt>gTt	p.D226V	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	226					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TATGAGCCGGATGCTAGTGTA	0.323																																																	0													120.0	90.0	101.0					X																	38268008		2202	4300	6502	SO:0001583	missense	0			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.677A>T	X.37:g.38268008A>T	ENSP00000039007:p.Asp226Val		A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans	p.D226V	ENST00000039007.4	37	c.677	CCDS14247.1	X	.	.	.	.	.	.	.	.	.	.	A	14.51	2.558015	0.45590	.	.	ENSG00000036473	ENST00000039007	D	0.99070	-5.39	5.88	5.88	0.94601	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.087521	0.85682	D	0.000000	D	0.98751	0.9580	M	0.89414	3.03	0.80722	D	1	P	0.47841	0.901	P	0.44811	0.461	D	0.98920	1.0783	10	0.66056	D	0.02	0.204	15.2041	0.73165	1.0:0.0:0.0:0.0	.	226	P00480	OTC_HUMAN	V	226	ENSP00000039007:D226V	ENSP00000039007:D226V	D	+	2	0	OTC	38152952	1.000000	0.71417	0.971000	0.41717	0.239000	0.25481	8.275000	0.89892	1.973000	0.57446	0.486000	0.48141	GAT	OTC	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans	ENSG00000036473		0.323	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	-	0.00	89	0	A			38268008	+1	tier1	-	no_errors	ENST00000039007	ensembl	human	known	74_37	missense	39.39	40	26	SNP	1.000	T
PACS1	55690	genome.wustl.edu	37	11	66006623	66006623	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:66006623C>T	ENST00000320580.4	+	21	2337	c.2304C>T	c.(2302-2304)gaC>gaT	p.D768D	PACS1_ENST00000529757.1_Silent_p.D304D|PACS1_ENST00000524815.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	768					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.D768D(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCGATGGGGACGATTCTCCTG	0.617																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											134.0	115.0	121.0					11																	66006623		2200	4295	6495	SO:0001819	synonymous_variant	0			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2304C>T	11.37:g.66006623C>T			Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	pfam_Phosphofurin_acidic_CS-1	p.D768	ENST00000320580.4	37	c.2304	CCDS8129.1	11																																																																																			PACS1	-	pfam_Phosphofurin_acidic_CS-1	ENSG00000175115		0.617	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	-	0.00	48	0	C	NM_018026		66006623	+1	tier1	-	no_errors	ENST00000320580	ensembl	human	known	74_37	silent	28.33	43	17	SNP	0.086	T
PARP8	79668	genome.wustl.edu	37	5	49962737	49962738	+	Intron	INS	-	-	CCT	rs151280834	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:49962737_49962738insCCT	ENST00000505697.2	+	2	171				PARP8_ENST00000514342.2_Intron|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000505554.1_5'Flank|PARP8_ENST00000513738.1_5'Flank|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000281631.5_5'Flank|PARP8_ENST00000503665.1_5'Flank|PARP8_ENST00000514067.2_5'Flank	NM_001178055.1	NP_001171526.1	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCCGAcctccccctcctcctcc	0.599														4260	0.850639	0.8533	0.8242	5008	,	,		4490	0.9117		0.8419	False		,,,				2504	0.8119																0																																										SO:0001627	intron_variant	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000505697.2:c.-11-181->CCT	5.37:g.49962744_49962746dupCCT			Q3KRB7|Q6DHZ1|Q9H754	RNA	INS	-	NULL	ENST00000505697.2	37	NULL	CCDS3954.1	5																																																																																			PARP8	-	-	ENSG00000151883		0.599	PARP8-002	NOVEL	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000368401.4		0.00	33	0	-	NM_024615		49962738	+1	tier1		no_errors	ENST00000513414	ensembl	human	putative	74_37	rna	12.50	28	4	INS	0.994:0.991	CCT
PARVA	55742	genome.wustl.edu	37	11	12495472	12495472	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:12495472T>C	ENST00000550549.1	+	3	288	c.239T>C	c.(238-240)gTg>gCg	p.V80A	PARVA_ENST00000538608.1_Missense_Mutation_p.V27A|PARVA_ENST00000539723.1_Missense_Mutation_p.V80A|PARVA_ENST00000526746.1_3'UTR|PARVA_ENST00000334956.8_Missense_Mutation_p.V120A			Q9NVD7	PARVA_HUMAN	parvin, alpha	80					actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GAGAATGAGGTGCGAACAATG	0.488																																																	0													35.0	34.0	35.0					11																	12495472		1937	4127	6064	SO:0001583	missense	0			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.239T>C	11.37:g.12495472T>C	ENSP00000447198:p.Val80Ala		Q96C85|Q9HA48	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.V120A	ENST00000550549.1	37	c.359		11	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909297	0.33721	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549;ENST00000538608;ENST00000528916	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.23	2.8	0.32819	Calponin homology domain (1);	0.205235	0.41500	D	0.000879	T	0.10121	0.0248	N	0.03608	-0.345	0.51233	D	0.999914	B;B;B	0.20164	0.001;0.0;0.042	B;B;B	0.17433	0.003;0.001;0.018	T	0.14504	-1.0470	10	0.34782	T	0.22	-18.9184	6.5933	0.22659	0.269:0.0:0.1402:0.5908	.	27;80;80	B7Z952;Q9NVD7;Q9NVD7-2	.;PARVA_HUMAN;.	A	120;80;80;27;44	ENSP00000334008:V120A;ENSP00000438967:V80A;ENSP00000447198:V80A;ENSP00000442960:V27A;ENSP00000435860:V44A	ENSP00000334008:V120A	V	+	2	0	PARVA	12452048	1.000000	0.71417	0.429000	0.26710	0.955000	0.61496	4.379000	0.59575	0.268000	0.21939	0.482000	0.46254	GTG	PARVA	-	superfamily_CH-domain	ENSG00000197702		0.488	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	PARVA	HGNC	protein_coding			0.00	54	0	T	NM_018222		12495472	+1			no_errors	ENST00000334956	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.937	C
PAX7	5081	genome.wustl.edu	37	1	19029767	19029767	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:19029767G>C	ENST00000375375.3	+	7	1730	c.1132G>C	c.(1132-1134)Gtc>Ctc	p.V378L	PAX7_ENST00000400661.3_Missense_Mutation_p.V376L|PAX7_ENST00000420770.2_Missense_Mutation_p.V378L	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	378					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CATGAACCCGGTCAGCAACGG	0.627			T	FOXO1A	alveolar rhabdomyosarcoma																																			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													53.0	54.0	54.0					1																	19029767		2203	4300	6503	SO:0001583	missense	0			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1132G>C	1.37:g.19029767G>C	ENSP00000364524:p.Val378Leu		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.V378L	ENST00000375375.3	37	c.1132	CCDS186.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298001	0.60086	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	T;T;T	0.79033	-1.23;-1.23;-1.23	5.41	5.41	0.78517	.	15.933600	0.01166	U	0.006740	T	0.78400	0.4277	L	0.40543	1.245	0.53688	D	0.999978	B;B;B	0.20261	0.017;0.043;0.008	B;B;B	0.25140	0.058;0.05;0.044	T	0.37430	-0.9706	10	0.33141	T	0.24	.	18.1238	0.89580	0.0:0.0:1.0:0.0	.	378;376;378	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	L	378;378;376	ENSP00000364524:V378L;ENSP00000403389:V378L;ENSP00000383502:V376L	ENSP00000364524:V378L	V	+	1	0	PAX7	18902354	1.000000	0.71417	0.972000	0.41901	0.829000	0.46940	9.210000	0.95106	2.698000	0.92095	0.561000	0.74099	GTC	PAX7	-	pfam_Pax7	ENSG00000009709		0.627	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	-	0.00	70	0	G	NM_002584		19029767	+1	tier1	-	no_errors	ENST00000375375	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.999	C
PCDHA8	56140	genome.wustl.edu	37	5	140222186	140222187	+	Missense_Mutation	DNP	CG	CG	GA			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:140222186_140222187CG>GA	ENST00000531613.1	+	1	1280_1281	c.1280_1281CG>GA	c.(1279-1281)gCG>gGA	p.A427G	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A427G	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTAACCGCGCGGGACGGGG	0.634																																																	0																																										SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		Exception_encountered	5.37:g.140222186_140222187delinsGA	ENSP00000434655:p.Ala427Gly		B9EGT7|O75281	Missense_Mutation|Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A427G|p.A427	ENST00000531613.1	37	c.1280|c.1281	CCDS54919.1	5																																																																																			PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204962		0.634	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2		0.00	46|45	0	C|G	NM_018911		140222186|140222187	+1			no_errors	ENST00000531613	ensembl	human	known	74_37	missense|silent	9.52|7.94	57|58	6|5	SNP	0.951|0.003	G|A
PCDHA10	56139	genome.wustl.edu	37	5	140236457	140236457	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:140236457A>T	ENST00000307360.5	+	1	824	c.824A>T	c.(823-825)gAa>gTa	p.E275V	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E275V|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAACAAGGAAATGATGTAT	0.368																																																	0													76.0	74.0	75.0					5																	140236457		2196	4271	6467	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.824A>T	5.37:g.140236457A>T	ENSP00000304234:p.Glu275Val		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E275V	ENST00000307360.5	37	c.824	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059185	0.36373	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51325	0.71;0.71	4.29	3.09	0.35607	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61311	0.2337	M	0.67569	2.06	0.27132	N	0.961865	P;B;D	0.63880	0.5;0.402;0.993	B;B;D	0.65443	0.2;0.128;0.935	T	0.51332	-0.8719	9	0.72032	D	0.01	.	7.5484	0.27781	0.7147:0.1457:0.0:0.1396	.	275;275;275	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	V	275	ENSP00000421030:E275V;ENSP00000304234:E275V	ENSP00000304234:E275V	E	+	2	0	PCDHA10	140216641	0.866000	0.29940	0.893000	0.35052	0.984000	0.73092	3.993000	0.56987	0.758000	0.33059	0.459000	0.35465	GAA	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.368	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0.00	16	0	A	NM_018901		140236457	+1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.983	T
PCDHGA6	56109	genome.wustl.edu	37	5	140755355	140755355	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:140755355A>T	ENST00000517434.1	+	1	1705	c.1705A>T	c.(1705-1707)Aca>Tca	p.T569S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTCCCCACAGACGGTTC	0.662																																																	0													105.0	123.0	117.0					5																	140755355		2202	4300	6502	SO:0001583	missense	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1705A>T	5.37:g.140755355A>T	ENSP00000429601:p.Thr569Ser		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T569S	ENST00000517434.1	37	c.1705	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	3.802	-0.041454	0.07452	.	.	ENSG00000253731	ENST00000517434	T	0.44482	0.92	4.57	3.41	0.39046	Cadherin-like (1);	0.000000	0.31834	U	0.007000	T	0.22936	0.0554	N	0.11698	0.16	0.09310	N	0.999996	P;B	0.35600	0.511;0.377	B;B	0.37888	0.26;0.133	T	0.08166	-1.0735	10	0.45353	T	0.12	.	4.7057	0.12848	0.6072:0.1558:0.2371:0.0	.	569;569	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	S	569	ENSP00000429601:T569S	ENSP00000429601:T569S	T	+	1	0	PCDHGA6	140735539	0.000000	0.05858	0.939000	0.37840	0.365000	0.29674	0.517000	0.22832	0.901000	0.36495	0.456000	0.33151	ACA	PCDHGA6	-	superfamily_Cadherin-like	ENSG00000253731		0.662	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0.00	126	0	A	NM_018919		140755355	+1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	missense	72.28	28	73	SNP	0.622	T
PDE4DIP	9659	genome.wustl.edu	37	1	144930759	144930759	+	Intron	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:144930759G>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S317Y|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S317Y|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGTAGGCTGGATTTCACTGG	0.488			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													107.0	113.0	111.0					1																	144930759		2203	4300	6503	SO:0001627	intron_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6938C>A	1.37:g.144930759G>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S317Y	ENST00000369354.3	37	c.950	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991030	0.74703	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.12569	2.67;2.67	5.58	4.66	0.58398	.	.	.	.	.	T	0.18173	0.0436	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	P	0.61201	0.885	T	0.00169	-1.1962	9	0.72032	D	0.01	.	11.5362	0.50639	0.0858:0.0:0.9142:0.0	.	317	Q5VU43-2	.	Y	317	ENSP00000316434:S317Y;ENSP00000433392:S317Y	ENSP00000316434:S317Y	S	-	2	0	PDE4DIP	143642116	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.883000	0.69721	2.642000	0.89623	0.650000	0.86243	TCC	PDE4DIP	-	NULL	ENSG00000178104		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0.00	81	0	G	NM_022359		144930759	-1	tier1	-	no_errors	ENST00000313431	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	T
PDE6B	5158	genome.wustl.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:661763_661765delAGG	ENST00000496514.1	+	21	2492_2494	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_ENST00000255622.6_In_Frame_Del_p.E828del|PDE6B_ENST00000429163.2_In_Frame_Del_p.E549del			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	828					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CTGGAGGAGAAGGAGGAGGAGGA	0.562																																					GBM(71;463 1194 9848 25922 46834)												0																																										SO:0001651	inframe_deletion	0			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2471_2473delAGG	4.37:g.661772_661774delAGG	ENSP00000420295:p.Glu828del		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	In_Frame_Del	DEL	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E828in_frame_del	ENST00000496514.1	37	c.2471_2473	CCDS33932.1	4																																																																																			PDE6B	-	NULL	ENSG00000133256		0.562	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1		0.00	23	0	AGG	NM_000283		661765	+1	tier1		no_errors	ENST00000496514	ensembl	human	known	74_37	in_frame_del	17.65	14	3	DEL	1.000:1.000:1.000	-
PDZRN3	23024	genome.wustl.edu	37	3	73453349	73453349	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:73453349C>T	ENST00000263666.4	-	4	1230	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K	PDZRN3_ENST00000466780.1_Silent_p.K29K|PDZRN3_ENST00000462146.2_Silent_p.K29K|PDZRN3_ENST00000535920.1_Silent_p.K94K|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Silent_p.K89K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	372					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GAGAGGACATCTTAGTGAGGG	0.493																																																	0													175.0	143.0	154.0					3																	73453349		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1116G>A	3.37:g.73453349C>T			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.K372	ENST00000263666.4	37	c.1116	CCDS33789.1	3																																																																																			PDZRN3	-	NULL	ENSG00000121440		0.493	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0.00	67	0	C	XM_041363		73453349	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	36.96	29	17	SNP	1.000	T
PIK3R1	5295	genome.wustl.edu	37	5	67522599	67522600	+	In_Frame_Ins	INS	-	-	AAT			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:67522599_67522600insAAT	ENST00000521381.1	+	2	712_713	c.96_97insAAT	c.(97-99)aat>AATaat	p.33_33N>NN	PIK3R1_ENST00000274335.5_In_Frame_Ins_p.33_33N>NN|PIK3R1_ENST00000521657.1_In_Frame_Ins_p.33_33N>NN|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.33_33N>NN	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	33	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TATTGACTGTGAATAAAGGGTC	0.431			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	1	Whole gene deletion(1)	large_intestine(1)																																								SO:0001652	inframe_insertion	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.97_99dupAAT	5.37:g.67522600_67522602dupAAT	ENSP00000428056:p.Asn33dup		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.33in_frame_insN	ENST00000521381.1	37	c.96_97	CCDS3993.1	5																																																																																			PIK3R1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000145675		0.431	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2		0.00	89	0	-	NM_181504		67522600	+1	tier1		no_errors	ENST00000396611	ensembl	human	known	74_37	in_frame_ins	28.00	36	14	INS	1.000:1.000	AAT
PLIN3	10226	genome.wustl.edu	37	19	4839272	4839273	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:4839272_4839273delGT	ENST00000221957.4	-	8	1412_1413	c.1236_1237delAC	c.(1234-1239)acacctfs	p.P413fs	PLIN3_ENST00000585479.1_Frame_Shift_Del_p.P412fs|CTC-518P12.6_ENST00000591657.1_RNA|PLIN3_ENST00000592528.1_Frame_Shift_Del_p.P401fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	413					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CACGTGACAGGTGTGTTCTGGG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.1236_1237delAC	19.37:g.4839276_4839277delGT	ENSP00000221957:p.Pro413fs		A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Frame_Shift_Del	DEL	pfam_Perilipin,pirsf_Perilipin	p.P413fs	ENST00000221957.4	37	c.1237_1236	CCDS12137.1	19																																																																																			PLIN3	-	pirsf_Perilipin	ENSG00000105355		0.639	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLIN3	HGNC	protein_coding	OTTHUMT00000450436.1		0.00	83	0	GT	NM_005817		4839273	-1	tier1		no_errors	ENST00000221957	ensembl	human	known	74_37	frame_shift_del	38.60	35	22	DEL	1.000:0.003	-
POLD2	5425	genome.wustl.edu	37	7	44155474	44155474	+	Silent	SNP	T	T	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:44155474T>A	ENST00000406581.2	-	10	1687	c.1038A>T	c.(1036-1038)ggA>ggT	p.G346G	POLD2_ENST00000223361.3_Silent_p.G346G|POLD2_ENST00000452185.1_Silent_p.G346G	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	346					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						TCACGTTCTGTCCTGATGTCC	0.567																																																	0													172.0	155.0	160.0					7																	44155474		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1038A>T	7.37:g.44155474T>A			A4D2J4|B2R5S4	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.G346	ENST00000406581.2	37	c.1038	CCDS5477.1	7																																																																																			POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu	ENSG00000106628		0.567	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	-	0.00	41	0	T	NM_001127218		44155474	-1	tier1	-	no_errors	ENST00000406581	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.954	A
PRAMEF5	343068	genome.wustl.edu	37	1	13365910	13365910	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:13365910A>C	ENST00000376168.1	+	3	454	c.354A>C	c.(352-354)gaA>gaC	p.E118D		NM_001013407.1	NP_001013425.1	Q5TYX0	PRAM5_HUMAN	PRAME family member 5	118					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					central_nervous_system(1)|kidney(3)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGGTCTGAAGCTATGGCCC	0.478																																																	0													1.0	1.0	1.0					1																	13365910		146	312	458	SO:0001583	missense	0				CCDS72708.1	1p36.21	2014-07-15			ENSG00000204502			"""-"""	27995	protein-coding gene	gene with protein product			"""PRAME family member 23"""	PRAMEF23			Standard	NM_001013407		Approved	PRAMEF5L	uc001auu.1	Q5TYX0	OTTHUMG00000009505	ENST00000376168.1:c.354A>C	1.37:g.13365910A>C	ENSP00000365338:p.Glu118Asp		A2BDD6|A4FU31	Missense_Mutation	SNP	NULL	p.E118D	ENST00000376168.1	37	c.354	CCDS30596.1	1	.	.	.	.	.	.	.	.	.	.	.	9.231	1.035717	0.19590	.	.	ENSG00000204502	ENST00000376168	T	0.04654	3.58	1.13	1.13	0.20643	.	0.628911	0.13238	N	0.403064	T	0.04318	0.0119	N	0.25485	0.75	0.09310	N	1	.	.	.	.	.	.	T	0.40459	-0.9562	8	0.51188	T	0.08	.	4.4783	0.11755	1.0:0.0:0.0:0.0	.	.	.	.	D	118	ENSP00000365338:E118D	ENSP00000365338:E118D	E	+	3	2	PRAMEF5	13238497	0.131000	0.22433	0.020000	0.16555	0.111000	0.19643	1.618000	0.36954	0.768000	0.33290	0.136000	0.15936	GAA	PRAMEF5	-	NULL	ENSG00000204502		0.478	PRAMEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF5	HGNC	protein_coding	OTTHUMT00000026271.1	-	0.00	69	0	A	NM_001013407		13365910	+1	tier1	-	no_errors	ENST00000376168	ensembl	human	known	74_37	missense	28.33	43	17	SNP	0.028	C
PRDM10	56980	genome.wustl.edu	37	11	129788514	129788514	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:129788514G>A	ENST00000360871.3	-	14	2365	c.2134C>T	c.(2134-2136)Cgc>Tgc	p.R712C	PRDM10_ENST00000304538.6_Missense_Mutation_p.R626C|PRDM10_ENST00000358825.5_Missense_Mutation_p.R716C|PRDM10_ENST00000526082.1_Missense_Mutation_p.R630C|PRDM10_ENST00000528746.1_Missense_Mutation_p.R686C|PRDM10_ENST00000423662.2_Missense_Mutation_p.R630C	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	716					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GACGTGATGCGGGGCTTGAAC	0.597																																																	0													262.0	242.0	249.0					11																	129788514		2201	4297	6498	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2134C>T	11.37:g.129788514G>A	ENSP00000354118:p.Arg712Cys		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R716C	ENST00000360871.3	37	c.2146	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482414	0.84747	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.11712	2.77;2.8;2.77;2.78;2.85;2.75;2.85	5.79	5.79	0.91817	.	0.056590	0.64402	D	0.000001	T	0.20088	0.0483	N	0.22421	0.69	0.54753	D	0.999985	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;D;D;D	0.65773	0.869;0.938;0.869;0.938;0.925;0.938	T	0.00790	-1.1565	10	0.56958	D	0.05	-26.8576	16.3064	0.82849	0.0:0.0:0.8673:0.1327	.	626;712;716;630;626;630	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	C	716;626;712;630;686;630;429	ENSP00000351686:R716C;ENSP00000302669:R626C;ENSP00000354118:R712C;ENSP00000398431:R630C;ENSP00000431262:R686C;ENSP00000432237:R630C;ENSP00000435940:R429C	ENSP00000302669:R626C	R	-	1	0	PRDM10	129293724	1.000000	0.71417	0.421000	0.26609	0.976000	0.68499	5.521000	0.67086	2.733000	0.93635	0.655000	0.94253	CGC	PRDM10	-	NULL	ENSG00000170325		0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	-	0.00	60	0	G	NM_199437		129788514	-1	tier1	-	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	22.67	58	17	SNP	0.904	A
PRIM2	5558	genome.wustl.edu	37	6	57393103	57393103	+	Intron	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:57393103T>C	ENST00000389488.2	+	9	848				PRIM2_ENST00000607273.1_Intron			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		tttttttctttttttaaaGTC	0.269																																																	0													40.0	36.0	37.0					6																	57393103		1771	4039	5810	SO:0001627	intron_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.849-9T>C	6.37:g.57393103T>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.269	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0.00	87	0	T	NM_000947		57393103	+1	tier1	-	no_errors	ENST00000550475	ensembl	human	known	74_37	rna	16.05	68	13	SNP	0.000	C
PSD4	23550	genome.wustl.edu	37	2	113940951	113940951	+	Missense_Mutation	SNP	G	G	T	rs267598841		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:113940951G>T	ENST00000245796.6	+	2	1113	c.918G>T	c.(916-918)ttG>ttT	p.L306F	PSD4_ENST00000441564.3_Missense_Mutation_p.L306F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	306					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCAGATTTGGGGGACGGCG	0.607																																																	0													58.0	50.0	52.0					2																	113940951		2203	4300	6503	SO:0001583	missense	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.918G>T	2.37:g.113940951G>T	ENSP00000245796:p.Leu306Phe		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.L306F	ENST00000245796.6	37	c.918	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009576	0.35415	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.11712	2.81;2.75	5.83	2.98	0.34508	.	2.082930	0.02042	N	0.049399	T	0.10165	0.0249	L	0.27053	0.805	0.26930	N	0.966493	B;B	0.26672	0.156;0.097	B;B	0.29716	0.106;0.049	T	0.32025	-0.9922	9	.	.	.	.	6.3936	0.21601	0.1657:0.1495:0.6848:0.0	.	306;306	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	F	306	ENSP00000245796:L306F;ENSP00000413997:L306F	.	L	+	3	2	PSD4	113657422	0.005000	0.15991	0.021000	0.16686	0.014000	0.08584	0.220000	0.17660	0.770000	0.33336	0.655000	0.94253	TTG	PSD4	-	NULL	ENSG00000125637		0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0.00	36	0	G	NM_012455		113940951	+1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.028	T
PTPRD	5789	genome.wustl.edu	37	9	8500768	8500768	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:8500768C>T	ENST00000381196.4	-	21	2657	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	PTPRD_ENST00000358503.5_Missense_Mutation_p.R692Q|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.R705Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R705Q|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.R692Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	705	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCATTGGTTCGAATCAACAC	0.473										TSP Lung(15;0.13)																																							0													185.0	165.0	172.0					9																	8500768		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2114G>A	9.37:g.8500768C>T	ENSP00000370593:p.Arg705Gln		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R705Q	ENST00000381196.4	37	c.2114	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840511	0.91197	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.58;0.51	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057811	0.64402	D	0.000001	T	0.71099	0.3300	M	0.63208	1.945	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.70227	0.935;0.968;0.947	T	0.67692	-0.5605	9	.	.	.	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	692;705;705	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	Q	705;705;692;692;705	ENSP00000370593:R705Q;ENSP00000348812:R705Q;ENSP00000353187:R692Q;ENSP00000351293:R692Q;ENSP00000438164:R705Q	.	R	-	2	0	PTPRD	8490768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.746000	0.94184	0.563000	0.77884	CGA	PTPRD	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0.00	74	0	C			8500768	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8733794	8733794	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:8733794C>T	ENST00000381196.4	-	9	593	c.50G>A	c.(49-51)cGc>cAc	p.R17H	PTPRD_ENST00000358503.5_Missense_Mutation_p.R17H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R17H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R17H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R17H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R17H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R17H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R17H|PTPRD_ENST00000463477.1_Missense_Mutation_p.R17H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R17H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R17H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R17H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	17					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R17H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCATCCGTGCGGAGGAAGAA	0.582										TSP Lung(15;0.13)																																							1	Substitution - Missense(1)	large_intestine(1)											65.0	52.0	56.0					9																	8733794		2166	4233	6399	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.50G>A	9.37:g.8733794C>T	ENSP00000370593:p.Arg17His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R17H	ENST00000381196.4	37	c.50	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225700	0.39300	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.73681	0.58;0.58;0.63;0.68;0.76;0.89;0.63;0.54;0.58;0.76;0.88;-0.55;-0.77	5.56	0.58	0.17402	.	1.057470	0.07351	N	0.882479	T	0.45796	0.1360	N	0.03608	-0.345	0.21473	N	0.999672	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.27905	-1.0060	9	.	.	.	.	2.8975	0.05694	0.12:0.4312:0.1066:0.3423	.	17;17;17;17;17;17;17;17;17;17	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	17	ENSP00000370593:R17H;ENSP00000348812:R17H;ENSP00000353187:R17H;ENSP00000351293:R17H;ENSP00000347373:R17H;ENSP00000380741:R17H;ENSP00000380735:R17H;ENSP00000440515:R17H;ENSP00000438164:R17H;ENSP00000417093:R17H;ENSP00000380731:R17H;ENSP00000417661:R17H;ENSP00000417890:R17H	.	R	-	2	0	PTPRD	8723794	0.003000	0.15002	0.491000	0.27477	0.948000	0.59901	-1.113000	0.03296	0.181000	0.19994	0.655000	0.94253	CGC	PTPRD	-	NULL	ENSG00000153707		0.582	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0.00	30	0	C			8733794	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.733	T
CLTC	1213	genome.wustl.edu	37	17	57756899	57756899	+	Intron	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:57756899T>C	ENST00000269122.3	+	18	3193				CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGCAAATGTGTTTATGGCTGT	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													62.0	59.0	60.0					17																	57756899		2203	4300	6503	SO:0001627	intron_variant	0			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2919+19T>C	17.37:g.57756899T>C			D3DU00|Q6N0A0|Q86TF2	RNA	SNP	-	NULL	ENST00000269122.3	37	NULL	CCDS32696.1	17																																																																																			PTRH2	-	-	ENSG00000141378		0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRH2	HGNC	protein_coding	OTTHUMT00000258859.1	-	0.00	34	0	T	NM_004859		57756899	-1	tier1	-	no_errors	ENST00000587935	ensembl	human	known	74_37	rna	16.39	50	10	SNP	0.029	C
RAD21L1	642636	genome.wustl.edu	37	20	1234974	1234974	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:1234974G>A	ENST00000409241.1	+	14	1637	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	RAD21L1_ENST00000402452.1_Intron|RAD21L1_ENST00000381882.2_Intron	NM_001136566.2	NP_001130038.2	Q9H4I0	RD21L_HUMAN	RAD21-like 1 (S. pombe)	515					attachment of telomeric heterochromatin to nuclear envelope (GO:0070197)|chromosome segregation (GO:0007059)|double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				NS(1)|breast(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	7						AATAGTGACCGAAAACAAGCA	0.393																																																	0													68.0	58.0	61.0					20																	1234974		692	1591	2283	SO:0001583	missense	0			AL031665	CCDS46568.1	20p13	2011-08-12			ENSG00000244588	ENSG00000244588			16271	protein-coding gene	gene with protein product							Standard	NM_001136566		Approved	dJ545L17.2, RAD21L	uc010gab.1	Q9H4I0	OTTHUMG00000031664	ENST00000409241.1:c.1544G>A	20.37:g.1234974G>A	ENSP00000386414:p.Arg515Gln		B2RXL0|B7ZBB1|B7ZW76|Q5W0X5	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.R515Q	ENST00000409241.1	37	c.1544	CCDS46568.1	20	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141106	0.37825	.	.	ENSG00000244588	ENST00000409241	D	0.86865	-2.18	4.92	2.79	0.32731	Rad21/Rec8-like protein, C-terminal (1);Rad21/Rec8-like protein, C-terminal, eukaryotic (1);	.	.	.	.	D	0.85212	0.5645	L	0.48362	1.52	0.80722	D	1	D	0.54047	0.964	P	0.49387	0.609	D	0.84939	0.0864	9	0.66056	D	0.02	.	9.4844	0.38919	0.0913:0.1521:0.7566:0.0	.	515	Q9H4I0	RD21L_HUMAN	Q	515	ENSP00000386414:R515Q	ENSP00000386414:R515Q	R	+	2	0	RAD21L1	1182974	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	3.336000	0.52113	1.256000	0.44068	0.655000	0.94253	CGA	RAD21L1	-	pfam_Rad21/Rec8_C_eu	ENSG00000244588		0.393	RAD21L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21L1	HGNC	protein_coding	OTTHUMT00000334022.1		0.00	40	0	G			1234974	+1			no_errors	ENST00000409241	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.993	A
RAG2	5897	genome.wustl.edu	37	11	36615695	36615695	+	Silent	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:36615695G>T	ENST00000311485.3	-	2	185	c.24C>A	c.(22-24)gtC>gtA	p.V8V	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	8					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGTTATTACTGACTGTTACCA	0.363									Familial Hemophagocytic Lymphohistiocytosis																																								0													50.0	57.0	54.0					11																	36615695		2202	4297	6499	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.24C>A	11.37:g.36615695G>T			A8K9E9|Q8TBL4	Silent	SNP	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD	p.V8	ENST00000311485.3	37	c.24	CCDS7903.1	11																																																																																			RAG2	-	pfam_RAG2	ENSG00000175097		0.363	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG2	HGNC	protein_coding	OTTHUMT00000389536.1		0.00	47	0	G	NM_000536		36615695	-1			no_errors	ENST00000311485	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.058	T
RANBP6	26953	genome.wustl.edu	37	9	6012712	6012712	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:6012712C>T	ENST00000259569.5	-	1	2906	c.2896G>A	c.(2896-2898)Gca>Aca	p.A966T	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	966					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTGGAATTTGCACACTTAATA	0.378																																																	0													100.0	93.0	95.0					9																	6012712		2203	4300	6503	SO:0001583	missense	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2896G>A	9.37:g.6012712C>T	ENSP00000259569:p.Ala966Thr		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.A966T	ENST00000259569.5	37	c.2896	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778760	0.31502	.	.	ENSG00000137040	ENST00000259569	T	0.11063	2.81	4.78	3.88	0.44766	Armadillo-like helical (1);Armadillo-type fold (1);	0.248378	0.39475	N	0.001344	T	0.12347	0.0300	M	0.68952	2.095	0.45378	D	0.99836	B;B;B	0.16396	0.017;0.004;0.004	B;B;B	0.13407	0.009;0.006;0.009	T	0.04900	-1.0919	10	0.56958	D	0.05	-9.1304	6.9877	0.24737	0.0:0.7347:0.1743:0.0911	.	133;554;966	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	T	966	ENSP00000259569:A966T	ENSP00000259569:A966T	A	-	1	0	RANBP6	6002712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.960000	0.40422	1.626000	0.50381	0.650000	0.86243	GCA	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.378	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	-	0.00	42	0	C	NM_012416		6012712	-1	tier1	-	no_errors	ENST00000259569	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T
RBBP6	5930	genome.wustl.edu	37	16	24578657	24578657	+	Missense_Mutation	SNP	G	G	T	rs199538396		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:24578657G>T	ENST00000319715.4	+	15	2215	c.1783G>T	c.(1783-1785)Gct>Tct	p.A595S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A595S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	595					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCCACCACCCGCTGGGTATAG	0.542																																																	0													201.0	207.0	205.0					16																	24578657		2197	4300	6497	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1783G>T	16.37:g.24578657G>T	ENSP00000317872:p.Ala595Ser		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.A595S	ENST00000319715.4	37	c.1783	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711745	0.48517	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17528	2.27;2.46	5.9	5.9	0.94986	.	0.147891	0.46758	D	0.000274	T	0.28300	0.0699	N	0.24115	0.695	0.38567	D	0.949844	D;D	0.69078	0.997;0.995	D;P	0.65010	0.931;0.855	T	0.02901	-1.1096	10	0.24483	T	0.36	-21.1466	20.2723	0.98479	0.0:0.0:1.0:0.0	.	595;595	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	S	595	ENSP00000317872:A595S;ENSP00000316291:A595S	ENSP00000317872:A595S	A	+	1	0	RBBP6	24486158	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.498000	0.60373	2.793000	0.96121	0.563000	0.77884	GCT	RBBP6	-	NULL	ENSG00000122257		0.542	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2		0.00	81	0	G	NM_006910		24578657	+1			no_errors	ENST00000319715	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
RDX	5962	genome.wustl.edu	37	11	110128868	110128868	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:110128868T>C	ENST00000343115.4	-	6	833	c.514A>G	c.(514-516)Ata>Gta	p.I172V	RDX_ENST00000528498.1_Missense_Mutation_p.I172V|RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.I36V|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.I172V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CAGTTCTGTATTCTTTCTTCC	0.299																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													184.0	169.0	174.0					11																	110128868		2201	4297	6498	SO:0001583	missense	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.514A>G	11.37:g.110128868T>C	ENSP00000342830:p.Ile172Val		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.I172V	ENST00000343115.4	37	c.514	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677412	0.88445	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.6	5.6	0.85130	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	L	0.60012	1.86	0.80722	D	1	P;D;P	0.63880	0.814;0.993;0.94	P;D;P	0.85130	0.64;0.997;0.633	D	0.88126	0.2835	10	0.52906	T	0.07	.	15.7788	0.78243	0.0:0.0:0.0:1.0	.	36;172;172	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	V	172;172;172;172;36	ENSP00000432112:I172V;ENSP00000384136:I172V;ENSP00000342830:I172V;ENSP00000445826:I36V	ENSP00000342830:I172V	I	-	1	0	RDX	109634078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.954000	0.87848	2.123000	0.65237	0.528000	0.53228	ATA	RDX	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain	ENSG00000137710		0.299	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2		0.00	29	0	T	NM_002906		110128868	-1			no_errors	ENST00000530749	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	C
RELN	5649	genome.wustl.edu	37	7	103138602	103138602	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:103138602G>A	ENST00000428762.1	-	54	8924	c.8765C>T	c.(8764-8766)gCc>gTc	p.A2922V	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.A2922V|RELN_ENST00000424685.2_Missense_Mutation_p.A2922V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2922					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTGTCCTCGGCAAGAATTCC	0.433																																					NSCLC(146;835 1944 15585 22231 52158)												0													133.0	121.0	125.0					7																	103138602		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8765C>T	7.37:g.103138602G>A	ENSP00000392423:p.Ala2922Val		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A2922V	ENST00000428762.1	37	c.8765	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319665	0.60524	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.23552	1.9;1.9;1.9	5.89	5.89	0.94794	Neuraminidase (2);	0.052829	0.85682	D	0.000000	T	0.39911	0.1096	L	0.35341	1.055	0.51482	D	0.99992	B;D	0.62365	0.04;0.991	B;P	0.61132	0.034;0.884	T	0.02398	-1.1165	10	0.40728	T	0.16	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	2922;2922	P78509-2;P78509	.;RELN_HUMAN	V	2922;2922;2922;439;2922	ENSP00000392423:A2922V;ENSP00000345694:A2922V;ENSP00000388446:A2922V	ENSP00000345694:A2922V	A	-	2	0	RELN	102925838	1.000000	0.71417	0.961000	0.40146	0.901000	0.52897	6.660000	0.74417	2.793000	0.96121	0.655000	0.94253	GCC	RELN	-	superfamily_Sialidases	ENSG00000189056		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0.00	53	0	G	NM_005045		103138602	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.997	A
RGS21	431704	genome.wustl.edu	37	1	192321288	192321288	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:192321288C>T	ENST00000417209.2	+	4	374	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	67	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GACAAAATTGCTTCCAAAGCC	0.368																																																	0													65.0	62.0	63.0					1																	192321288		1856	4113	5969	SO:0001583	missense	0			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.200C>T	1.37:g.192321288C>T	ENSP00000428343:p.Ala67Val			Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.A67V	ENST00000417209.2	37	c.200	CCDS41448.1	1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108275	0.37242	.	.	ENSG00000253148	ENST00000417209	T	0.01918	4.56	5.77	3.9	0.45041	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.611043	0.12157	U	0.494325	T	0.01695	0.0054	N	0.11131	0.1	0.24499	N	0.994264	B	0.06786	0.001	B	0.06405	0.002	T	0.47045	-0.9147	10	0.25106	T	0.35	.	10.6919	0.45875	0.0:0.8451:0.0:0.1549	.	67	Q2M5E4	RGS21_HUMAN	V	67	ENSP00000428343:A67V	ENSP00000428343:A67V	A	+	2	0	RGS21	190587911	0.089000	0.21612	1.000000	0.80357	0.987000	0.75469	0.862000	0.27899	1.448000	0.47680	0.557000	0.71058	GCT	RGS21	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000253148		0.368	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS21	HGNC	protein_coding	OTTHUMT00000086387.2		0.00	41	0	C			192321288	+1			no_errors	ENST00000417209	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.995	T
RNF165	494470	genome.wustl.edu	37	18	44036483	44036483	+	Splice_Site	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr18:44036483C>T	ENST00000269439.7	+	8	976	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	RNF165_ENST00000543885.1_Splice_Site_p.R117C	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	309							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTCTTCCAGACGCCTACCCTG	0.587																																																	0													106.0	102.0	104.0					18																	44036483		2203	4300	6503	SO:0001630	splice_region_variant	0			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.924-1C>T	18.37:g.44036483C>T			B3KVD1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.R309C	ENST00000269439.7	37	c.925	CCDS32823.1	18	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204733	0.58234	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.47869	0.83;0.83	4.72	4.72	0.59763	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.64402	D	0.000001	T	0.54935	0.1889	L	0.31120	0.905	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.58624	-0.7604	10	0.72032	D	0.01	.	12.4039	0.55428	0.1685:0.8315:0.0:0.0	.	309	Q6ZSG1	RN165_HUMAN	C	309;117	ENSP00000269439:R309C;ENSP00000444285:R117C	ENSP00000269439:R309C	R	+	1	0	RNF165	42290481	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.282000	0.43461	2.177000	0.69029	0.313000	0.20887	CGC	RNF165	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	ENSG00000141622		0.587	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF165	HGNC	protein_coding	OTTHUMT00000445358.1		0.00	32	0	C	NM_152470	Missense_Mutation	44036483	+1			no_errors	ENST00000269439	ensembl	human	known	74_37	missense	38.89	11	7	SNP	1.000	T
RNF214	257160	genome.wustl.edu	37	11	117152314	117152314	+	Splice_Site	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:117152314A>T	ENST00000531452.1	+	10	1282		c.e10-1		RNF214_ENST00000524917.1_Splice_Site|RNF214_ENST00000300650.4_Splice_Site|RNF214_ENST00000531287.1_Splice_Site|RNF214_ENST00000530849.1_Splice_Site	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214								zinc ion binding (GO:0008270)	p.?(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TTTTTTTTTTAGGACCAATTT	0.428																																																	1	Unknown(1)	prostate(1)											136.0	131.0	132.0					11																	117152314		1833	4083	5916	SO:0001630	splice_region_variant	0			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1237-1A>T	11.37:g.117152314A>T			B2RUW0|B4DTD1	Splice_Site	SNP	-	e9-2	ENST00000531452.1	37	c.1237-2	CCDS41720.1	11	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647450	0.47258	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5056	0.75739	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF214	116657524	1.000000	0.71417	0.940000	0.37924	0.530000	0.34684	6.082000	0.71318	2.254000	0.74563	0.460000	0.39030	.	RNF214	-	-	ENSG00000167257		0.428	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF214	HGNC	protein_coding	OTTHUMT00000392884.1		0.00	41	0	A	NM_001077239	Intron	117152314	+1			no_errors	ENST00000300650	ensembl	human	known	74_37	splice_site	5.56	33	2	SNP	0.989	T
RNFT2	84900	genome.wustl.edu	37	12	117289549	117289549	+	3'UTR	DEL	A	A	-	rs373885060		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:117289549delA	ENST00000257575.4	+	0	3864				RNFT2_ENST00000319176.7_Frame_Shift_Del_p.K260fs|RNFT2_ENST00000407967.3_Intron|RNFT2_ENST00000551251.1_Intron|RNFT2_ENST00000392549.2_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		gactctgtctaaaaaaaaaaa	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.*2296A>-	12.37:g.117289549delA			E9PAM7|Q96SU5	Frame_Shift_Del	DEL	NULL	p.K259fs	ENST00000257575.4	37	c.766	CCDS44987.1	12																																																																																			RNFT2	-	NULL	ENSG00000135119		0.502	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT2	HGNC	protein_coding	OTTHUMT00000320417.1		0.00	24	0	A	NM_032814		117289549	+1	tier1		no_errors	ENST00000319176	ensembl	human	putative	74_37	frame_shift_del	8.70	21	2	DEL	0.003	-
ROBO1	6091	genome.wustl.edu	37	3	78689016	78689016	+	Missense_Mutation	SNP	G	G	A	rs554782891		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:78689016G>A	ENST00000464233.1	-	22	3028	c.2915C>T	c.(2914-2916)gCg>gTg	p.A972V	ROBO1_ENST00000467549.1_Missense_Mutation_p.A927V|ROBO1_ENST00000436010.2_Missense_Mutation_p.A933V|ROBO1_ENST00000495273.1_Missense_Mutation_p.A927V	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	972					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.A927V(1)|p.A972V(1)|p.A949V(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCATGGCTGCGCGGCAGGTTC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		16924	0.001		0.0	False		,,,				2504	0.0																3	Substitution - Missense(3)	large_intestine(3)											52.0	49.0	50.0					3																	78689016		1938	4145	6083	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2915C>T	3.37:g.78689016G>A	ENSP00000420321:p.Ala972Val		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A972V	ENST00000464233.1	37	c.2915	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689869	0.29962	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60548	0.22;0.2;0.2;0.18	5.65	5.65	0.86999	.	0.361650	0.33959	N	0.004387	T	0.42630	0.1211	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.26635	0.046;0.155;0.081;0.045;0.081	B;B;B;B;B	0.25987	0.036;0.047;0.022;0.018;0.065	T	0.23261	-1.0193	9	.	.	.	.	14.5415	0.67999	0.0:0.0:0.8536:0.1464	.	936;972;927;927;933	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	V	933;927;972;927;927;976	ENSP00000406043:A933V;ENSP00000420321:A972V;ENSP00000420637:A927V;ENSP00000417992:A927V	.	A	-	2	0	ROBO1	78771706	0.997000	0.39634	0.056000	0.19401	0.057000	0.15508	7.500000	0.81588	2.664000	0.90586	0.491000	0.48974	GCG	ROBO1	-	NULL	ENSG00000169855		0.428	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0.00	24	0	G	NM_002941		78689016	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.253	A
RPS5	6193	genome.wustl.edu	37	19	58904526	58904526	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:58904526G>A	ENST00000596046.1	+	2	1141	c.292G>A	c.(292-294)Gag>Aag	p.E98K	RPS5_ENST00000598495.1_Missense_Mutation_p.E119K|RPS5_ENST00000601521.1_Missense_Mutation_p.E98K|RPS5_ENST00000196551.3_Missense_Mutation_p.E98K|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000598098.1_Intron			P46782	RS5_HUMAN	ribosomal protein S5	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GCATGCCTTCGAGATCATACA	0.582																																																	0													87.0	73.0	78.0					19																	58904526		2203	4300	6503	SO:0001583	missense	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.292G>A	19.37:g.58904526G>A	ENSP00000472985:p.Glu98Lys		B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.E98K	ENST00000596046.1	37	c.292	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338556	0.60963	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.99	4.99	0.66335	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	M	0.87456	2.885	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.83182	-0.0088	9	0.87932	D	0	-49.4134	16.1479	0.81583	0.0:0.0:1.0:0.0	.	98	P46782	RS5_HUMAN	K	98	.	ENSP00000196551:E98K	E	+	1	0	RPS5	63596338	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.324000	0.90005	2.499000	0.84300	0.655000	0.94253	GAG	RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	ENSG00000083845		0.582	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1		0.00	40	0	G	NM_001009		58904526	+1			no_errors	ENST00000196551	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
RPS8	6202	genome.wustl.edu	37	1	45243860	45243860	+	Intron	DEL	T	T	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:45243860delT	ENST00000396651.3	+	5	677				SNORD38B_ENST00000384690.1_RNA|SNORD38A_ENST00000365161.1_RNA|SNORD46_ENST00000364043.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|SNORD55_ENST00000581525.1_RNA|RPS8_ENST00000485390.1_Intron|RPS8_ENST00000372209.3_Intron			P62241	RS8_HUMAN	ribosomal protein S8						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCCGAGGCACTTTTCCCTTGT	0.542																																																	0																																										SO:0001627	intron_variant	0			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.517+59T>-	1.37:g.45243860delT			P09058|Q6IRL7	RNA	DEL	-	NULL	ENST00000396651.3	37	NULL	CCDS513.1	1																																																																																			RPS8	-	-	ENSG00000142937		0.542	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS8	HGNC	protein_coding	OTTHUMT00000023439.1		0.00	26	0	T	NM_001012		45243860	+1	tier1		no_errors	ENST00000484599	ensembl	human	known	74_37	rna	9.52	19	2	DEL	0.000	-
SAMD9L	219285	genome.wustl.edu	37	7	92762790	92762791	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:92762790_92762791insT	ENST00000318238.4	-	5	3710_3711	c.2494_2495insA	c.(2494-2496)acafs	p.T832fs	SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.T832fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.T832fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	832					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTACCAATGTTTTTTCATAT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2495dupA	7.37:g.92762796_92762796dupT	ENSP00000326247:p.Thr832fs		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.T832fs	ENST00000318238.4	37	c.2495_2494	CCDS34681.1	7																																																																																			SAMD9L	-	superfamily_P-loop_NTPase	ENSG00000177409		0.361	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1		0.00	57	0	-	NM_152703		92762791	-1	tier1		no_errors	ENST00000318238	ensembl	human	known	74_37	frame_shift_ins	32.86	47	23	INS	0.170:0.145	T
SASH1	23328	genome.wustl.edu	37	6	148792635	148792635	+	Silent	SNP	A	A	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:148792635A>C	ENST00000367467.3	+	6	985	c.510A>C	c.(508-510)tcA>tcC	p.S170S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	170					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GACAGACTTCAAAAGGTACTG	0.388																																																	0													58.0	56.0	57.0					6																	148792635		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.510A>C	6.37:g.148792635A>C			Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.S170	ENST00000367467.3	37	c.510	CCDS5212.1	6																																																																																			SASH1	-	NULL	ENSG00000111961		0.388	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	-	0.00	73	0	A	NM_015278		148792635	+1	tier1	-	no_errors	ENST00000367467	ensembl	human	known	74_37	silent	32.86	47	23	SNP	0.999	C
SCN9A	6335	genome.wustl.edu	37	2	167084183	167084183	+	Silent	SNP	A	A	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:167084183A>G	ENST00000409435.1	-	22	4256	c.4257T>C	c.(4255-4257)gtT>gtC	p.V1419V	SCN9A_ENST00000303354.6_Silent_p.V1420V|SCN9A_ENST00000409672.1_Silent_p.V1408V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.V1420V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1419					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTTACATTAACAGAATCCA	0.294																																																	0													56.0	51.0	53.0					2																	167084183		1794	4051	5845	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4257T>C	2.37:g.167084183A>G			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.V1420	ENST00000409435.1	37	c.4260	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.294	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0.00	47	0	A	NM_002977		167084183	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	silent	50.00	28	28	SNP	0.769	G
SCNM1	79005	genome.wustl.edu	37	1	151139677	151139677	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:151139677G>A	ENST00000368905.4	+	4	403	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	SCNM1_ENST00000461862.1_3'UTR|LYSMD1_ENST00000440902.2_5'Flank|LYSMD1_ENST00000368908.5_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	98					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTGAGAAGGGAAGAAACCAA	0.502																																																	0													169.0	172.0	171.0					1																	151139677		2203	4300	6503	SO:0001583	missense	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.292G>A	1.37:g.151139677G>A	ENSP00000357901:p.Glu98Lys		B4DWR1|Q5JR74	Missense_Mutation	SNP	NULL	p.E98K	ENST00000368905.4	37	c.292	CCDS987.1	1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666938	0.67814	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.45	4.53	0.55603	.	0.264897	0.41938	D	0.000790	T	0.30230	0.0758	L	0.57536	1.79	0.20307	N	0.999913	P;P	0.39282	0.666;0.666	P;B	0.44811	0.461;0.271	T	0.14227	-1.0480	9	0.66056	D	0.02	-5.0763	11.3848	0.49778	0.0:0.0:0.8069:0.1931	.	98;98	B4DWR1;Q9BWG6	.;SCNM1_HUMAN	K	98;63	.	ENSP00000357898:E63K	E	+	1	0	SCNM1	149406301	0.999000	0.42202	0.006000	0.13384	0.516000	0.34256	3.305000	0.51873	1.241000	0.43820	0.448000	0.29417	GAA	SCNM1	-	NULL	ENSG00000163156		0.502	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2	-	0.00	35	0	G	NM_024041		151139677	+1	tier1	-	no_errors	ENST00000368905	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.367	A
SLC14A1	6563	genome.wustl.edu	37	18	43329755	43329755	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr18:43329755G>T	ENST00000321925.4	+	10	1241	c.1009G>T	c.(1009-1011)Gct>Tct	p.A337S	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A393S|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A41S|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A337S|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A229S|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A205S|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Q287H|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A393S|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A232S	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	337					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGGATTGCCAGCTTGTACCTG	0.493																																																	0													164.0	137.0	146.0					18																	43329755		2203	4300	6503	SO:0001583	missense	0			BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.1009G>T	18.37:g.43329755G>T	ENSP00000318546:p.Ala337Ser		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	pfam_Urea_transporter	p.A393S	ENST00000321925.4	37	c.1177	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426880	0.25726	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	5.33	-4.54	0.03452	.	0.689254	0.13408	N	0.390075	T	0.30039	0.0752	N	0.25245	0.725	0.25069	N	0.991008	B;B;B	0.16802	0.005;0.006;0.019	B;B;B	0.21360	0.011;0.023;0.034	T	0.14531	-1.0469	10	0.29301	T	0.29	-0.3396	6.4922	0.22121	0.0803:0.076:0.4958:0.348	.	393;229;337	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	S	337;393;229;232;205;393	ENSP00000318546:A337S;ENSP00000412309:A393S;ENSP00000442180:A229S;ENSP00000385320:A232S;ENSP00000441998:A205S;ENSP00000390637:A393S	ENSP00000318546:A337S	A	+	1	0	SLC14A1	41583753	0.006000	0.16342	0.064000	0.19789	0.629000	0.37895	-0.048000	0.11944	-0.827000	0.04278	0.591000	0.81541	GCT	SLC14A1	-	pfam_Urea_transporter	ENSG00000141469		0.493	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2		0.00	51	0	G	NM_015865		43329755	+1			no_errors	ENST00000415427	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.383	T
SLC16A1	6566	genome.wustl.edu	37	1	113464612	113464612	+	Splice_Site	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:113464612C>T	ENST00000538576.1	-	3	1192	c.361G>A	c.(361-363)Ggt>Agt	p.G121S	SLC16A1_ENST00000369626.3_Splice_Site_p.G121S|SLC16A1_ENST00000433570.4_Splice_Site_p.G121S	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	121					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AGTAACTCACCTCCAATGACT	0.408																																																	0													104.0	93.0	97.0					1																	113464612		2203	4300	6503	SO:0001630	splice_region_variant	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.361+1G>A	1.37:g.113464612C>T			Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G121S	ENST00000538576.1	37	c.361	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.148862	0.94645	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92678	0.7673	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94151	0.7405	9	.	.	.	.	20.2476	0.98400	0.0:1.0:0.0:0.0	.	121;121	Q49A45;P53985	.;MOT1_HUMAN	S	121	ENSP00000358640:G121S;ENSP00000441065:G121S;ENSP00000416167:G121S;ENSP00000445061:G121S;ENSP00000399104:G121S;ENSP00000397106:G121S	.	G	-	1	0	SLC16A1	113266135	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	GGT	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.408	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	-	0.00	37	0	C	NM_003051	Missense_Mutation	113464612	-1	tier1	-	no_errors	ENST00000369626	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T
SLC16A2	6567	genome.wustl.edu	37	X	73751298	73751298	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrX:73751298A>T	ENST00000587091.1	+	6	1707	c.1530A>T	c.(1528-1530)agA>agT	p.R510S	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R584S	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	510					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	AAGAGCAGAGAGATTCCAGCA	0.537																																																	0													104.0	91.0	95.0					X																	73751298		2203	4300	6503	SO:0001583	missense	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1530A>T	X.37:g.73751298A>T	ENSP00000465734:p.Arg510Ser		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R584S	ENST00000587091.1	37	c.1752	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776529	0.31411	.	.	ENSG00000147100	ENST00000276033	T	0.10477	2.87	5.3	-2.15	0.07102	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.832356	0.10888	N	0.623012	T	0.06781	0.0173	N	0.24115	0.695	0.27786	N	0.942981	B	0.11235	0.004	B	0.08055	0.003	T	0.42258	-0.9462	10	0.17832	T	0.49	.	11.6673	0.51381	0.5913:0.0:0.4087:0.0	.	510	P36021	MOT8_HUMAN	S	584	ENSP00000276033:R584S	ENSP00000276033:R584S	R	+	3	2	SLC16A2	73668023	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	1.509000	0.35780	-0.421000	0.07416	-0.424000	0.05967	AGA	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000147100		0.537	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	-	0.00	27	0	A			73751298	+1	tier1	-	no_errors	ENST00000276033	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.985	T
SLC22A2	6582	genome.wustl.edu	37	6	160677677	160677677	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:160677677C>G	ENST00000366953.3	-	2	745	c.487G>C	c.(487-489)Ggc>Cgc	p.G163R	SLC22A2_ENST00000491092.1_Intron|SLC22A2_ENST00000366952.1_Missense_Mutation_p.G142R	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	163					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.G163C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CTCATAGAGCCAATAAAGAAT	0.458																																																	1	Substitution - Missense(1)	lung(1)											128.0	120.0	123.0					6																	160677677		2203	4300	6503	SO:0001583	missense	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.487G>C	6.37:g.160677677C>G	ENSP00000355920:p.Gly163Arg		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G163R	ENST00000366953.3	37	c.487	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566374	0.65651	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	D;D	0.89810	-2.57;-2.57	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.055499	0.64402	D	0.000001	D	0.97244	0.9099	H	0.99011	4.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.995	D	0.98380	1.0558	10	0.87932	D	0	.	20.0608	0.97674	0.0:1.0:0.0:0.0	.	163;163;163	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	R	163;142	ENSP00000355920:G163R;ENSP00000355919:G142R	ENSP00000355919:G142R	G	-	1	0	SLC22A2	160597667	1.000000	0.71417	0.495000	0.27527	0.024000	0.10985	7.390000	0.79816	2.733000	0.93635	0.650000	0.86243	GGC	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.458	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1		0.00	48	0	C	NM_003058		160677677	-1			no_errors	ENST00000366953	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.990	G
SLC4A8	9498	genome.wustl.edu	37	12	51845973	51845973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:51845973G>T	ENST00000453097.2	+	4	560	c.343G>T	c.(343-345)Gag>Tag	p.E115*	SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.E142*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.E62*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.E115*(2)|p.E62*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGTGCCTCATGAGCTGTTTAC	0.478																																																	3	Substitution - Nonsense(3)	urinary_tract(3)											260.0	244.0	249.0					12																	51845973		2203	4300	6503	SO:0001587	stop_gained	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.343G>T	12.37:g.51845973G>T	ENSP00000405812:p.Glu115*			Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E115*	ENST00000453097.2	37	c.343	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.835927	0.98516	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	.	.	.	5.62	5.62	0.85841	.	0.143561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	17.5318	0.87817	0.0:0.0:1.0:0.0	.	.	.	.	X	62;142;115;62;115;62;62;62	.	ENSP00000315789:E115X	E	+	1	0	SLC4A8	50132240	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GAG	SLC4A8	-	superfamily_PTrfase/Anion_transptr	ENSG00000050438		0.478	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1		0.00	40	0	G	NM_004858		51845973	+1			no_errors	ENST00000453097	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	T
SLC5A11	115584	genome.wustl.edu	37	16	24921729	24921729	+	Missense_Mutation	SNP	C	C	T	rs148456649		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:24921729C>T	ENST00000347898.3	+	15	2375	c.1753C>T	c.(1753-1755)Cca>Tca	p.P585S	SLC5A11_ENST00000568579.1_Missense_Mutation_p.P515S|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P429S|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P550S|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P515S|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P429S|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P521S|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P521S|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P550S	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.P585T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAACGGGATGCCAGAGGCCAG	0.552																																																	1	Substitution - Missense(1)	lung(1)						C	SER/PRO	0,4394		0,0,2197	108.0	88.0	95.0		1753	-7.9	0.0	16	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A11	NM_052944.2	74	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	585/676	24921729	1,12993	2197	4300	6497	SO:0001583	missense	0			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1753C>T	16.37:g.24921729C>T	ENSP00000289932:p.Pro585Ser			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P585S	ENST00000347898.3	37	c.1753	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194768	0.38806	0.0	1.16E-4	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	5.39	-7.9	0.01169	.	2.029970	0.01502	N	0.017534	T	0.39600	0.1084	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.19073	0.02;0.033;0.025;0.002	B;B;B;B	0.17979	0.009;0.02;0.009;0.002	T	0.12192	-1.0557	10	0.24483	T	0.36	.	2.1856	0.03886	0.4133:0.1495:0.294:0.1433	.	515;550;585;429	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	S	585;429;550;515;521	ENSP00000289932:P585S;ENSP00000389606:P429S;ENSP00000416782:P550S;ENSP00000441384:P515S;ENSP00000441018:P521S	ENSP00000289932:P585S	P	+	1	0	SLC5A11	24829230	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-1.435000	0.02423	-1.093000	0.03058	0.514000	0.50259	CCA	SLC5A11	-	NULL	ENSG00000158865		0.552	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3		0.00	53	0	C	NM_052944		24921729	+1			no_errors	ENST00000347898	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.000	T
SLCO3A1	28232	genome.wustl.edu	37	15	92706461	92706462	+	3'UTR	DEL	AC	AC	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:92706461_92706462delAC	ENST00000318445.6	+	0	2443_2444				SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Intron|RP11-24J19.1_ENST00000557683.1_RNA|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AAAACTCAGTacacacacacag	0.396																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.*97AC>-	15.37:g.92706469_92706470delAC			A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	RNA	DEL	-	NULL	ENST00000318445.6	37	NULL	CCDS10371.1	15																																																																																			SLCO3A1	-	-	ENSG00000176463		0.396	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1		0.00	37	0	AC	NM_013272		92706462	+1	tier1		no_errors	ENST00000555549	ensembl	human	known	74_37	rna	7.69	24	2	DEL	0.000:0.000	-
SNAP25	6616	genome.wustl.edu	37	20	10287918	10287918	+	3'UTR	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:10287918A>T	ENST00000254976.2	+	0	1905				SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_3'UTR	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GAAACCttttaaaaaaataat	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.*1073A>T	20.37:g.10287918A>T			B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	RNA	SNP	-	NULL	ENST00000254976.2	37	NULL	CCDS13110.1	20																																																																																			SNAP25	-	-	ENSG00000132639		0.308	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	-	0.00	69	0	A	NM_130811		10287918	+1	tier1	-	no_errors	ENST00000495883	ensembl	human	known	74_37	rna	19.35	50	12	SNP	1.000	T
SPAG17	200162	genome.wustl.edu	37	1	118539321	118539321	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:118539321A>T	ENST00000336338.5	-	33	4887	c.4822T>A	c.(4822-4824)Ttg>Atg	p.L1608M		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1608						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCATCTTCCAATTTTTTTTCA	0.353																																																	0													75.0	78.0	77.0					1																	118539321		2203	4298	6501	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4822T>A	1.37:g.118539321A>T	ENSP00000337804:p.Leu1608Met		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.L1608M	ENST00000336338.5	37	c.4822	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	A	9.921	1.212165	0.22289	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19532	2.14	5.2	-6.3	0.02007	.	2.024170	0.01645	N	0.024290	T	0.05181	0.0138	L	0.47716	1.5	0.09310	N	1	B	0.22683	0.073	B	0.18561	0.022	T	0.22103	-1.0226	10	0.34782	T	0.22	.	4.8476	0.13521	0.2527:0.0:0.3757:0.3716	.	1608	Q6Q759	SPG17_HUMAN	M	1608;88	ENSP00000337804:L1608M	ENSP00000337804:L1608M	L	-	1	2	SPAG17	118340844	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.236000	0.09003	-1.493000	0.01835	-0.339000	0.08088	TTG	SPAG17	-	NULL	ENSG00000155761		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0.00	26	0	A	NM_206996		118539321	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	missense	52.63	9	10	SNP	0.000	T
SNAPIN	23557	genome.wustl.edu	37	1	153631933	153631933	+	Missense_Mutation	SNP	G	G	T	rs567795423	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:153631933G>T	ENST00000368685.5	+	3	290	c.200G>T	c.(199-201)cGc>cTc	p.R67L	ILF2_ENST00000480213.1_5'Flank|SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	67					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACTGTGCCGCATAAATGAG	0.483																																																	0													136.0	136.0	136.0					1																	153631933		2203	4300	6503	SO:0001583	missense	0			AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17145	protein-coding gene	gene with protein product	"""snapin"", ""SNAP-25-binding protein"", ""biogenesis of lysosomal organelles complex-1, subunit 7"""	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.200G>T	1.37:g.153631933G>T	ENSP00000357674:p.Arg67Leu		D3DV56|Q5SXU8	Missense_Mutation	SNP	pirsf_Snapin	p.R67L	ENST00000368685.5	37	c.200	CCDS1049.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949638	0.53186	.	.	ENSG00000143553	ENST00000368685	T	0.48836	0.8	5.64	4.73	0.59995	.	0.104240	0.64402	D	0.000013	T	0.27765	0.0683	L	0.59436	1.845	0.42936	D	0.994337	B	0.11235	0.004	B	0.10450	0.005	T	0.31110	-0.9955	10	0.66056	D	0.02	-11.9578	8.6356	0.33945	0.1671:0.0:0.8329:0.0	.	67	O95295	SNAPN_HUMAN	L	67	ENSP00000357674:R67L	ENSP00000357674:R67L	R	+	2	0	SNAPIN	151898557	1.000000	0.71417	0.954000	0.39281	0.839000	0.47603	8.802000	0.91910	1.623000	0.50342	0.650000	0.86243	CGC	SNAPIN	-	pirsf_Snapin	ENSG00000143553		0.483	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPIN	HGNC	protein_coding	OTTHUMT00000090036.1		0.00	32	0	G	NM_012437		153631933	+1			no_errors	ENST00000368685	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.990	T
SPATA31D1	389763	genome.wustl.edu	37	9	84608742	84608742	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:84608742A>C	ENST00000344803.2	+	4	3404	c.3357A>C	c.(3355-3357)caA>caC	p.Q1119H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1119					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCATAATGCAAGCTGGAGCTG	0.507																																																	0													69.0	70.0	70.0					9																	84608742		1983	4166	6149	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3357A>C	9.37:g.84608742A>C	ENSP00000341988:p.Gln1119His			Missense_Mutation	SNP	NULL	p.Q1119H	ENST00000344803.2	37	c.3357	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	A	9.437	1.087152	0.20390	.	.	ENSG00000214929	ENST00000344803	T	0.05649	3.41	2.59	1.44	0.22558	.	.	.	.	.	T	0.09379	0.0231	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.28681	-1.0036	9	0.46703	T	0.11	-1.4629	4.3172	0.10998	0.8339:0.0:0.1661:0.0	.	1119	Q6ZQQ2	F75D1_HUMAN	H	1119	ENSP00000341988:Q1119H	ENSP00000341988:Q1119H	Q	+	3	2	FAM75D1	83798562	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.095000	0.15127	0.433000	0.26313	0.491000	0.48974	CAA	SPATA31D1	-	NULL	ENSG00000214929		0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0.00	44	0	A	NM_001001670		84608742	+1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	25.00	39	13	SNP	0.001	C
SPTA1	6708	genome.wustl.edu	37	1	158618411	158618411	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:158618411T>A	ENST00000368147.4	-	26	3782	c.3602A>T	c.(3601-3603)aAg>aTg	p.K1201M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1201					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGGCATTTCTTCTCAATCTG	0.522																																																	0													113.0	110.0	111.0					1																	158618411		1962	4165	6127	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3602A>T	1.37:g.158618411T>A	ENSP00000357129:p.Lys1201Met		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K1201M	ENST00000368147.4	37	c.3602	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899112	0.91962	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	5.48	5.48	0.80851	.	0.000000	0.33496	U	0.004849	T	0.57519	0.2059	M	0.65975	2.015	0.49051	D	0.999749	P	0.48230	0.907	P	0.62014	0.897	T	0.62412	-0.6860	10	0.87932	D	0	.	14.5554	0.68097	0.0:0.0:0.0:1.0	.	1201	P02549	SPTA1_HUMAN	M	1201	ENSP00000357130:K1201M;ENSP00000357129:K1201M	ENSP00000357129:K1201M	K	-	2	0	SPTA1	156885035	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.512000	0.60469	2.301000	0.77427	0.523000	0.50628	AAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	23	0	T	NM_003126		158618411	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A
SRP68	6730	genome.wustl.edu	37	17	74036995	74036995	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:74036995G>A	ENST00000307877.2	-	14	1750	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.A492V|SRP68_ENST00000355113.5_Missense_Mutation_p.A429V|SRP68_ENST00000602720.1_Missense_Mutation_p.A191V	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	530					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AAGGATGGCTGCGGCCTGCAG	0.557																																																	0													80.0	81.0	81.0					17																	74036995		2203	4300	6503	SO:0001583	missense	0			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1589C>T	17.37:g.74036995G>A	ENSP00000312066:p.Ala530Val		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	NULL	p.A530V	ENST00000307877.2	37	c.1589	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264026	0.59431	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	6.07	6.07	0.98685	.	0.044474	0.85682	D	0.000000	T	0.72028	0.3410	L	0.59436	1.845	0.80722	D	1	D;P	0.55605	0.972;0.952	P;P	0.56398	0.797;0.461	T	0.63292	-0.6670	9	0.15066	T	0.55	-24.0316	20.6439	0.99570	0.0:0.0:1.0:0.0	.	492;530	G3V1U4;Q9UHB9	.;SRP68_HUMAN	V	270;492;191;530;499;429	.	ENSP00000307756:A499V	A	-	2	0	SRP68	71548590	1.000000	0.71417	0.719000	0.30619	0.811000	0.45836	9.304000	0.96190	2.884000	0.98904	0.655000	0.94253	GCA	SRP68	-	NULL	ENSG00000167881		0.557	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1		0.00	59	0	G	NM_014230		74036995	-1			no_errors	ENST00000307877	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A
STAB2	55576	genome.wustl.edu	37	12	104111582	104111582	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:104111582A>G	ENST00000388887.2	+	44	4850	c.4646A>G	c.(4645-4647)gAt>gGt	p.D1549G		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACACTGGAGATGGAAAGGTC	0.542																																																	0													322.0	270.0	288.0					12																	104111582		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4646A>G	12.37:g.104111582A>G	ENSP00000373539:p.Asp1549Gly			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D1549G	ENST00000388887.2	37	c.4646	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597552	0.46318	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.92397	-3.03	5.86	5.86	0.93980	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96852	0.8972	M	0.92077	3.27	0.44562	D	0.997525	D	0.69078	0.997	D	0.72338	0.977	D	0.97440	1.0021	10	0.59425	D	0.04	.	15.2494	0.73532	1.0:0.0:0.0:0.0	.	1549	Q8WWQ8	STAB2_HUMAN	G	1549;236	ENSP00000373539:D1549G	ENSP00000258495:D236G	D	+	2	0	STAB2	102635712	1.000000	0.71417	0.072000	0.20136	0.012000	0.07955	6.338000	0.72963	2.240000	0.73641	0.533000	0.62120	GAT	STAB2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000136011		0.542	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0.00	54	0	A			104111582	+1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	27.12	43	16	SNP	0.983	G
STAT3	6774	genome.wustl.edu	37	17	40491335	40491335	+	Silent	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:40491335C>A	ENST00000264657.5	-	5	777	c.465G>T	c.(463-465)gtG>gtT	p.V155V	STAT3_ENST00000404395.3_Silent_p.V155V|STAT3_ENST00000389272.3_Silent_p.V57V|STAT3_ENST00000588969.1_Silent_p.V155V|STAT3_ENST00000585517.1_Silent_p.V155V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	155					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCATCACCTGCACTCTCTTCC	0.547									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													78.0	70.0	73.0					17																	40491335		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.465G>T	17.37:g.40491335C>A			A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.V155	ENST00000264657.5	37	c.465	CCDS32656.1	17																																																																																			STAT3	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000168610		0.547	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	-	0.00	22	0	C	NM_139276, NM_003150		40491335	-1	tier1	-	no_errors	ENST00000264657	ensembl	human	known	74_37	silent	21.88	50	14	SNP	0.757	A
TARS2	80222	genome.wustl.edu	37	1	150463878	150463878	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:150463878G>T	ENST00000369064.3	+	5	555	c.521G>T	c.(520-522)cGg>cTg	p.R174L	TARS2_ENST00000606933.1_Missense_Mutation_p.R174L|TARS2_ENST00000438568.2_Silent_p.P132P|TARS2_ENST00000369054.2_Missense_Mutation_p.R174L	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	174					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGGACAATCCGGGGCTCAGAG	0.567																																																	0													90.0	85.0	86.0					1																	150463878		2203	4300	6503	SO:0001583	missense	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.521G>T	1.37:g.150463878G>T	ENSP00000358060:p.Arg174Leu		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.R174L	ENST00000369064.3	37	c.521	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268353	0.23136	.	.	ENSG00000143374	ENST00000369054;ENST00000369064	T;T	0.06449	3.3;3.3	5.22	-3.61	0.04556	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	1.265160	0.05236	N	0.511260	T	0.01940	0.0061	L	0.42581	1.335	0.19575	N	0.999965	B;B	0.28055	0.199;0.144	B;B	0.20577	0.03;0.027	T	0.40496	-0.9560	10	0.37606	T	0.19	-8.4758	11.559	0.50766	0.7306:0.0:0.2694:0.0	.	174;174	Q9H9V2;Q9BW92	.;SYTM_HUMAN	L	174	ENSP00000358050:R174L;ENSP00000358060:R174L	ENSP00000358050:R174L	R	+	2	0	TARS2	148730502	0.943000	0.32029	0.229000	0.23960	0.440000	0.31957	-0.071000	0.11505	-0.792000	0.04480	0.563000	0.77884	CGG	TARS2	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000143374		0.567	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	-	0.00	43	0	G	NM_025150		150463878	+1	tier1	-	no_errors	ENST00000369064	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.070	T
TBC1D29	26083	genome.wustl.edu	37	17	28887667	28887667	+	Silent	SNP	T	T	C	rs78888987	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:28887667T>C	ENST00000580161.1	+	4	2608	c.111T>C	c.(109-111)gaT>gaC	p.D37D	TBC1D29_ENST00000584297.1_Silent_p.D37D|RP11-218M11.6_ENST00000582125.1_RNA|TBC1D29_ENST00000579181.1_Silent_p.D37D			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	37	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.D37D(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GCCTGTGGGATATGTATTTGC	0.572																																																	1	Substitution - coding silent(1)	lung(1)											149.0	126.0	134.0					17																	28887667		2203	4300	6503	SO:0001819	synonymous_variant	0			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.111T>C	17.37:g.28887667T>C				Silent	SNP	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D37	ENST00000580161.1	37	c.111	CCDS32606.1	17																																																																																			TBC1D29	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000266733		0.572	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TBC1D29	HGNC	protein_coding	OTTHUMT00000443632.1	-	0.00	79	0	T	NM_015594		28887667	+1	tier1	rs78888987	no_errors	ENST00000579181	ensembl	human	known	74_37	silent	8.82	62	6	SNP	1.000	C
TCTEX1D4	343521	genome.wustl.edu	37	1	45272226	45272226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:45272226G>A	ENST00000339355.2	-	1	121	c.115C>T	c.(115-117)Cga>Tga	p.R39*	BTBD19_ENST00000453418.1_5'Flank|TCTEX1D4_ENST00000372200.1_Nonsense_Mutation_p.R39*|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000450269.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	39						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCTGCCGGTCGGGCCTCATCA	0.736																																																	0													4.0	4.0	4.0					1																	45272226		2071	4089	6160	SO:0001587	stop_gained	0			BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.115C>T	1.37:g.45272226G>A	ENSP00000341803:p.Arg39*			Nonsense_Mutation	SNP	pfam_Tctex	p.R39*	ENST00000339355.2	37	c.115	CCDS30699.1	1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557866	0.27827	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	.	.	.	5.38	1.03	0.20045	.	0.130292	0.30437	N	0.009635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1012	7.8982	0.29719	0.0:0.2939:0.4037:0.3025	.	.	.	.	X	39	.	ENSP00000341803:R39X	R	-	1	2	TCTEX1D4	45044813	0.001000	0.12720	0.014000	0.15608	0.016000	0.09150	0.421000	0.21280	-0.069000	0.12931	0.555000	0.69702	CGA	TCTEX1D4	-	NULL	ENSG00000188396		0.736	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D4	HGNC	protein_coding	OTTHUMT00000023733.1	-	0.00	31	0	G	NM_001013632		45272226	-1	tier1	-	no_errors	ENST00000339355	ensembl	human	known	74_37	nonsense	31.25	22	10	SNP	0.002	A
TBX19	9095	genome.wustl.edu	37	1	168269680	168269680	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:168269680C>T	ENST00000367821.3	+	5	737	c.686C>T	c.(685-687)cCg>cTg	p.P229L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	229					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AGAGACGTACCGGAGGCTATC	0.478																																																	0													113.0	100.0	104.0					1																	168269680		2203	4300	6503	SO:0001583	missense	0			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.686C>T	1.37:g.168269680C>T	ENSP00000356795:p.Pro229Leu		Q52M53	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.P229L	ENST00000367821.3	37	c.686	CCDS1272.1	1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.678965	0.00751	.	.	ENSG00000143178	ENST00000367821;ENST00000367828	D	0.83837	-1.77	5.13	4.21	0.49690	.	.	.	.	.	T	0.35508	0.0934	N	0.04959	-0.14	0.45791	D	0.998670	B;B	0.34329	0.086;0.449	B;B	0.19148	0.003;0.024	T	0.19943	-1.0290	8	0.06891	T	0.86	.	8.9804	0.35961	0.0:0.7709:0.1501:0.0789	.	229;160	O60806;B3KRD9	TBX19_HUMAN;.	L	229;169	ENSP00000356795:P229L	ENSP00000356795:P229L	P	+	2	0	TBX19	166536304	0.000000	0.05858	0.037000	0.18230	0.019000	0.09904	1.178000	0.31981	1.112000	0.41740	0.650000	0.86243	CCG	TBX19	-	NULL	ENSG00000143178		0.478	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	-	0.00	35	0	C	NM_005149		168269680	+1	tier1	-	no_errors	ENST00000367821	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.001	T
TDP2	51567	genome.wustl.edu	37	6	24666321	24666321	+	Intron	DEL	A	A	-			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:24666321delA	ENST00000378198.4	-	2	422				TDP2_ENST00000341060.3_Intron|ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Intron|ACOT13_ENST00000537591.1_5'Flank			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2						cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GGTGTGCATTAAAAAAAAATA	0.428								Direct reversal of damage																																									0																																										SO:0001627	intron_variant	0			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.251+432T>-	6.37:g.24666321delA			B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	RNA	DEL	-	NULL	ENST00000378198.4	37	NULL	CCDS4557.1	6																																																																																			TDP2	-	-	ENSG00000111802		0.428	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TDP2	HGNC	protein_coding	OTTHUMT00000040012.1		0.00	43	0	A			24666321	-1	tier1		no_errors	ENST00000480495	ensembl	human	known	74_37	rna	8.70	42	4	DEL	0.002	-
TEX15	56154	genome.wustl.edu	37	8	30694786	30694786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:30694786G>T	ENST00000256246.2	-	3	7939	c.7865C>A	c.(7864-7866)tCa>tAa	p.S2622*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2622					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAGGACTTTTGAATTTTTGTC	0.383																																																	0													98.0	99.0	99.0					8																	30694786		2203	4300	6503	SO:0001587	stop_gained	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7865C>A	8.37:g.30694786G>T	ENSP00000256246:p.Ser2622*			Nonsense_Mutation	SNP	NULL	p.S2622*	ENST00000256246.2	37	c.7865	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	47	13.385633	0.99739	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.6	3.59	0.41128	.	1.028960	0.07764	N	0.950579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.0292	0.36249	0.1914:0.0:0.8086:0.0	.	.	.	.	X	2622	.	ENSP00000256246:S2622X	S	-	2	0	TEX15	30814328	0.007000	0.16637	0.002000	0.10522	0.071000	0.16799	1.661000	0.37408	1.334000	0.45468	0.650000	0.86243	TCA	TEX15	-	NULL	ENSG00000133863		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0.00	46	0	G			30694786	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.001	T
TMEM194A	23306	genome.wustl.edu	37	12	57456971	57456971	+	Missense_Mutation	SNP	G	G	A	rs537356134	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:57456971G>A	ENST00000300128.4	-	7	934	c.911C>T	c.(910-912)gCc>gTc	p.A304V	TMEM194A_ENST00000379391.3_Missense_Mutation_p.A231V	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	304						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GATGATAATGGCAAGGGCAAT	0.443																																																	0													274.0	236.0	248.0					12																	57456971		2203	4300	6503	SO:0001583	missense	0			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.911C>T	12.37:g.57456971G>A	ENSP00000300128:p.Ala304Val		Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	pfam_TMEM194	p.A304V	ENST00000300128.4	37	c.911	CCDS44927.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938710	0.73557	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.49720	0.77;0.77	5.61	2.69	0.31865	Domain of unknown function DUF2215 (1);	0.219510	0.46758	D	0.000269	T	0.47358	0.1441	L	0.40543	1.245	0.45118	D	0.998134	P;P	0.52316	0.768;0.952	P;P	0.49276	0.58;0.605	T	0.43475	-0.9389	10	0.49607	T	0.09	-1.681	14.9178	0.70812	0.0:0.4109:0.5891:0.0	.	304;231	O14524;O14524-2	T194A_HUMAN;.	V	231;304	ENSP00000368701:A231V;ENSP00000300128:A304V	ENSP00000300128:A304V	A	-	2	0	TMEM194A	55743238	0.959000	0.32827	0.399000	0.26333	0.983000	0.72400	2.150000	0.42254	0.274000	0.22072	-0.181000	0.13052	GCC	TMEM194A	-	pfam_TMEM194	ENSG00000166881		0.443	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194A	HGNC	protein_coding	OTTHUMT00000411272.1	-	0.00	48	0	G	NM_015257		57456971	-1	tier1	-	no_errors	ENST00000300128	ensembl	human	known	74_37	missense	48.21	29	27	SNP	0.998	A
TMEM67	91147	genome.wustl.edu	37	8	94792886	94792886	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:94792886C>T	ENST00000453321.3	+	8	838	c.780C>T	c.(778-780)taC>taT	p.Y260Y	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Silent_p.Y179Y	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	260					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGAATTCTTACGACTTTGCCA	0.348																																																	0													251.0	238.0	242.0					8																	94792886		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.780C>T	8.37:g.94792886C>T			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.Y260	ENST00000453321.3	37	c.780	CCDS6258.2	8																																																																																			TMEM67	-	pfam_Meckelin	ENSG00000164953		0.348	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	-	0.00	50	0	C	NM_153704		94792886	+1	tier1	-	no_errors	ENST00000453321	ensembl	human	known	74_37	silent	34.88	56	30	SNP	0.034	T
TMOD2	29767	genome.wustl.edu	37	15	52075011	52075011	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:52075011G>A	ENST00000249700.4	+	7	939	c.718G>A	c.(718-720)Gac>Aac	p.D240N	TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Missense_Mutation_p.D196N	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	240					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TCGCAGCAATGACCCTGTGGC	0.393																																																	0													111.0	114.0	113.0					15																	52075011		2195	4293	6488	SO:0001583	missense	0			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.718G>A	15.37:g.52075011G>A	ENSP00000249700:p.Asp240Asn		B4DEW6	Missense_Mutation	SNP	pfam_Tropomodulin	p.D240N	ENST00000249700.4	37	c.718	CCDS10144.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.242044	0.95272	.	.	ENSG00000128872	ENST00000249700;ENST00000539962	T;T	0.24723	1.84;1.84	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.60924	-0.7166	10	0.59425	D	0.04	-29.1052	19.4568	0.94895	0.0:0.0:1.0:0.0	.	240	Q9NZR1	TMOD2_HUMAN	N	240;196	ENSP00000249700:D240N;ENSP00000437743:D196N	ENSP00000249700:D240N	D	+	1	0	TMOD2	49862303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.063000	0.93927	2.832000	0.97577	0.655000	0.94253	GAC	TMOD2	-	NULL	ENSG00000128872		0.393	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD2	HGNC	protein_coding	OTTHUMT00000254742.2		0.00	32	0	G			52075011	+1			no_errors	ENST00000249700	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A
TMPRSS11B	132724	genome.wustl.edu	37	4	69094484	69094484	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:69094484C>T	ENST00000332644.5	-	9	1226	c.1065G>A	c.(1063-1065)atG>atA	p.M355I		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	355	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTTCTCCTGACATAAATCCAG	0.333																																																	0													137.0	124.0	128.0					4																	69094484		2203	4300	6503	SO:0001583	missense	0			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.1065G>A	4.37:g.69094484C>T	ENSP00000330475:p.Met355Ile		A8K4D9	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.M355I	ENST00000332644.5	37	c.1065	CCDS3521.1	4	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814914	0.32053	.	.	ENSG00000185873	ENST00000332644	D	0.88664	-2.41	4.47	3.61	0.41365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.124168	0.36200	N	0.002734	T	0.80654	0.4664	N	0.17764	0.52	0.09310	N	0.999997	B	0.30563	0.285	B	0.31686	0.134	T	0.73646	-0.3917	10	0.59425	D	0.04	.	10.8736	0.46899	0.0:0.9055:0.0:0.0945	.	355	Q86T26	TM11B_HUMAN	I	355	ENSP00000330475:M355I	ENSP00000330475:M355I	M	-	3	0	TMPRSS11B	68777079	0.018000	0.18449	0.073000	0.20177	0.038000	0.13279	0.695000	0.25527	1.229000	0.43630	0.655000	0.94253	ATG	TMPRSS11B	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1	ENSG00000185873		0.333	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	HGNC	protein_coding	OTTHUMT00000251431.2	-	0.00	33	0	C	NM_182502		69094484	-1	tier1	-	no_errors	ENST00000332644	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.333	T
TNR	7143	genome.wustl.edu	37	1	175372433	175372433	+	Silent	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:175372433C>T	ENST00000367674.2	-	4	1527	c.819G>A	c.(817-819)aaG>aaA	p.K273K	TNR_ENST00000263525.2_Silent_p.K273K			Q92752	TENR_HUMAN	tenascin R	273	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.K273N(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACATCTCCCCTTCCCCGAAC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											134.0	87.0	103.0					1																	175372433		2203	4300	6503	SO:0001819	synonymous_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.819G>A	1.37:g.175372433C>T			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.K273	ENST00000367674.2	37	c.819	CCDS1318.1	1																																																																																			TNR	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000116147		0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0.00	34	0	C	NM_003285		175372433	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	silent	31.58	26	12	SNP	1.000	T
TNS1	7145	genome.wustl.edu	37	2	218700896	218700896	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:218700896C>A	ENST00000171887.4	-	18	3123	c.2671G>T	c.(2671-2673)Gcc>Tcc	p.A891S	TNS1_ENST00000430930.1_Missense_Mutation_p.A891S|TNS1_ENST00000419504.1_Missense_Mutation_p.A891S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	891					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CGCAGAGGGGCTGGGGGCTCT	0.597																																																	0													38.0	42.0	41.0					2																	218700896		2203	4300	6503	SO:0001583	missense	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2671G>T	2.37:g.218700896C>A	ENSP00000171887:p.Ala891Ser		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.A891S	ENST00000171887.4	37	c.2671	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056708	0.36277	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91124	-2.79;2.25;-2.78;-2.77	5.38	4.47	0.54385	.	0.422908	0.24988	N	0.034014	T	0.77785	0.4182	N	0.08118	0	0.80722	D	1	B;B;B	0.12013	0.004;0.001;0.005	B;B;B	0.09377	0.004;0.004;0.003	T	0.70960	-0.4730	10	0.12766	T	0.61	.	10.616	0.45451	0.1366:0.7157:0.1477:0.0	.	891;891;891	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	S	891;50;891;891	ENSP00000171887:A891S;ENSP00000394171:A50S;ENSP00000408724:A891S;ENSP00000406016:A891S	ENSP00000171887:A891S	A	-	1	0	TNS1	218409141	0.609000	0.26975	1.000000	0.80357	0.996000	0.88848	1.608000	0.36847	2.793000	0.96121	0.655000	0.94253	GCC	TNS1	-	NULL	ENSG00000079308		0.597	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	-	0.00	73	0	C	NM_022648		218700896	-1	tier1	-	no_errors	ENST00000171887	ensembl	human	known	74_37	missense	23.40	71	22	SNP	0.997	A
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	50	0	G	NM_000546		7577539	-1	tier1	rs121912651	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	63.64	8	14	SNP	1.000	A
TPST1	8460	genome.wustl.edu	37	7	65705856	65705856	+	Silent	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:65705856G>A	ENST00000304842.5	+	2	869	c.444G>A	c.(442-444)aaG>aaA	p.K148K	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	148					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTATCGTTAAGCATGGGGAGC	0.428																																																	0													74.0	73.0	73.0					7																	65705856		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.444G>A	7.37:g.65705856G>A			A4D2M0|Q6FGM7	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K148	ENST00000304842.5	37	c.444	CCDS5533.1	7																																																																																			TPST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000169902		0.428	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST1	HGNC	protein_coding	OTTHUMT00000251705.2		0.00	35	0	G	NM_003596		65705856	+1			no_errors	ENST00000304842	ensembl	human	known	74_37	silent	6.90	27	2	SNP	1.000	A
TRIP10	9322	genome.wustl.edu	37	19	6743720	6743720	+	Splice_Site	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:6743720C>T	ENST00000313244.9	+	7	550	c.515C>T	c.(514-516)gCc>gTc	p.A172V	TRIP10_ENST00000600428.1_Splice_Site_p.A64V|TRIP10_ENST00000596758.1_Splice_Site_p.A172V|TRIP10_ENST00000313285.8_Splice_Site_p.A172V			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	172	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ATTCTTCAGGCCAAGCAGCAA	0.602																																																	0													130.0	112.0	118.0					19																	6743720		2203	4300	6503	SO:0001630	splice_region_variant	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.514-1C>T	19.37:g.6743720C>T			B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.A172V	ENST00000313244.9	37	c.515		19	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846287	0.91277	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.18810	2.19;2.19	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.933;0.975;0.999	T	0.41893	-0.9483	10	0.62326	D	0.03	-22.1524	13.6694	0.62416	0.0:1.0:0.0:0.0	.	172;172;172	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	V	172	ENSP00000320493:A172V;ENSP00000320117:A172V	ENSP00000320117:A172V	A	+	2	0	TRIP10	6694720	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.822000	0.75277	2.285000	0.76669	0.462000	0.41574	GCC	TRIP10	-	NULL	ENSG00000125733		0.602	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2		0.00	76	0	C		Missense_Mutation	6743720	+1			no_errors	ENST00000313244	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
TRPM3	80036	genome.wustl.edu	37	9	73225653	73225653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:73225653G>A	ENST00000377111.2	-	18	2746	c.2503C>T	c.(2503-2505)Cga>Tga	p.R835*	TRPM3_ENST00000396292.4_Nonsense_Mutation_p.R707*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.R839*|TRPM3_ENST00000377105.1_Nonsense_Mutation_p.R694*|TRPM3_ENST00000377110.3_Nonsense_Mutation_p.R835*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.R862*|TRPM3_ENST00000358082.3_Nonsense_Mutation_p.R697*|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.R694*|TRPM3_ENST00000396285.1_Nonsense_Mutation_p.R682*|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.R697*|TRPM3_ENST00000377106.1_Nonsense_Mutation_p.R707*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.R684*	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	860					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCGTTGTTTCGTCCCAACATT	0.463																																																	0													168.0	143.0	152.0					9																	73225653		2203	4300	6503	SO:0001587	stop_gained	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2503C>T	9.37:g.73225653G>A	ENSP00000366315:p.Arg835*		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom	p.R862*	ENST00000377111.2	37	c.2584		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.298242|10.298242	0.99378|0.99378	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	.|.	.|.	.|.	6.17|6.17	4.29|4.29	0.51040|0.51040	.|.	0.309590|.	0.30999|.	N|.	0.008443|.	.|T	.|0.64649	.|0.2617	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69847	.|-0.5034	.|3	0.02654|.	T|.	1|.	-10.9584|-10.9584	14.362|14.362	0.66779|0.66779	0.0:0.0:0.6115:0.3885|0.0:0.0:0.6115:0.3885	.|.	.|.	.|.	.|.	X|M	835;835;707;697;694;839;694;682;707;697;862|683	.|.	ENSP00000350140:R839X|.	R|T	-|-	1|2	2|0	TRPM3|TRPM3	72415473|72415473	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.991000|0.991000	0.79684|0.79684	3.765000|3.765000	0.55272|0.55272	0.876000|0.876000	0.35872|0.35872	0.655000|0.655000	0.94253|0.94253	CGA|ACG	TRPM3	-	NULL	ENSG00000083067		0.463	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0.00	66	0	G	NM_206945		73225653	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	nonsense	18.48	75	17	SNP	0.949	A
TRPV2	51393	genome.wustl.edu	37	17	16329551	16329551	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:16329551C>A	ENST00000338560.7	+	6	1462	c.1063C>A	c.(1063-1065)Ctg>Atg	p.L355M	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	355	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAACTCAGTGCTGGAGATCAT	0.572																																																	0													111.0	91.0	98.0					17																	16329551		2203	4300	6503	SO:0001583	missense	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1063C>A	17.37:g.16329551C>A	ENSP00000342222:p.Leu355Met		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.L355M	ENST00000338560.7	37	c.1063	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940042	0.52972	.	.	ENSG00000187688	ENST00000338560	D	0.91464	-2.85	5.07	3.07	0.35406	.	0.069200	0.64402	D	0.000014	D	0.94245	0.8152	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.92884	0.6325	10	0.66056	D	0.02	-9.7333	8.131	0.31027	0.0:0.7514:0.0:0.2486	.	355	Q9Y5S1	TRPV2_HUMAN	M	355	ENSP00000342222:L355M	ENSP00000342222:L355M	L	+	1	2	TRPV2	16270276	1.000000	0.71417	0.999000	0.59377	0.557000	0.35523	1.959000	0.40412	0.541000	0.28827	0.467000	0.42956	CTG	TRPV2	-	tigrfam_TRP_channel	ENSG00000187688		0.572	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	-	0.00	49	0	C	NM_016113		16329551	+1	tier1	-	no_errors	ENST00000338560	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	A
TSHZ3	57616	genome.wustl.edu	37	19	31768189	31768189	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:31768189G>C	ENST00000240587.4	-	2	2837	c.2510C>G	c.(2509-2511)tCg>tGg	p.S837W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	837					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCGTAGCGGCGAGTTTGACAT	0.532																																																	0													146.0	136.0	139.0					19																	31768189		2203	4300	6503	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2510C>G	19.37:g.31768189G>C	ENSP00000240587:p.Ser837Trp		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S837W	ENST00000240587.4	37	c.2510	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996494	0.74818	.	.	ENSG00000121297	ENST00000240587	T	0.19105	2.17	5.37	5.37	0.77165	.	0.127637	0.56097	D	0.000036	T	0.44705	0.1306	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.35574	-0.9783	10	0.87932	D	0	-13.8669	19.1085	0.93307	0.0:0.0:1.0:0.0	.	837	Q63HK5	TSH3_HUMAN	W	837	ENSP00000240587:S837W	ENSP00000240587:S837W	S	-	2	0	TSHZ3	36460029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.314000	0.96306	2.501000	0.84356	0.655000	0.94253	TCG	TSHZ3	-	NULL	ENSG00000121297		0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0.00	27	0	G	NM_020856		31768189	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	C
TTC28	23331	genome.wustl.edu	37	22	28388568	28388568	+	Intron	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr22:28388568G>T	ENST00000397906.2	-	19	5695				TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000433317.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000428584.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28						mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CTCCAGGCTCGACTTACCCGG	0.557																																																	0													40.0	43.0	42.0					22																	28388568		692	1591	2283	SO:0001627	intron_variant	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.5553+6C>A	22.37:g.28388568G>T			K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	RNA	SNP	-	NULL	ENST00000397906.2	37	NULL	CCDS46678.1	22																																																																																			TTC28-AS1	-	-	ENSG00000235954		0.557	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28-AS1	HGNC	protein_coding	OTTHUMT00000320930.2	-	0.00	48	0	G	XM_929318		28388568	+1	tier1	-	no_errors	ENST00000428584	ensembl	human	known	74_37	rna	40.68	35	24	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179428956	179428956	+	Silent	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:179428956G>A	ENST00000591111.1	-	276	77204	c.76980C>T	c.(76978-76980)ggC>ggT	p.G25660G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G24733G|TTN_ENST00000589042.1_Silent_p.G27301G|TTN_ENST00000359218.5_Silent_p.G18361G|TTN_ENST00000342175.6_Silent_p.G18428G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.G18236G|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25660	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATAGGTTTGCCACGGATGT	0.378																																																	0													152.0	153.0	153.0					2																	179428956		1889	4112	6001	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76980C>T	2.37:g.179428956G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G24733	ENST00000591111.1	37	c.74199		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	40	0	G	NM_133378		179428956	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	A
USP32P2	220594	genome.wustl.edu	37	17	18417905	18417905	+	RNA	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:18417905C>T	ENST00000425211.1	-	0	2494				USP32P2_ENST00000412260.1_RNA																							ATGTTTACCTCACAGATGCTG	0.388																																																	0																																												0																															17.37:g.18417905C>T				RNA	SNP	-	NULL	ENST00000425211.1	37	NULL		17																																																																																			USP32P2	-	-	ENSG00000233327		0.388	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	USP32P2	HGNC	processed_transcript	OTTHUMT00000473021.1	-	0.00	110	0	C			18417905	-1	tier1	-	no_errors	ENST00000412260	ensembl	human	known	74_37	rna	16.24	98	19	SNP	1.000	T
UBE2O	63893	genome.wustl.edu	37	17	74388061	74388061	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:74388061C>T	ENST00000319380.7	-	16	3144	c.3080G>A	c.(3079-3081)gGc>gAc	p.G1027D		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1027					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GTTCAGGCGGCCACTGCATTG	0.592																																																	0													33.0	32.0	32.0					17																	74388061		2203	4300	6503	SO:0001583	missense	0			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3080G>A	17.37:g.74388061C>T	ENSP00000323687:p.Gly1027Asp		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G1027D	ENST00000319380.7	37	c.3080	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732976	0.89482	.	.	ENSG00000175931	ENST00000319380	T	0.36520	1.25	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	N	0.25060	0.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20107	-1.0285	10	0.15952	T	0.53	-33.462	17.3568	0.87338	0.0:1.0:0.0:0.0	.	1027	Q9C0C9	UBE2O_HUMAN	D	1027	ENSP00000323687:G1027D	ENSP00000323687:G1027D	G	-	2	0	UBE2O	71899656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.570000	0.82390	2.518000	0.84900	0.563000	0.77884	GGC	UBE2O	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000175931		0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	-	0.00	59	0	C	NM_022066		74388061	-1	tier1	-	no_errors	ENST00000319380	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
WNT7B	7477	genome.wustl.edu	37	22	46345866	46345866	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr22:46345866G>A	ENST00000339464.4	-	2	606	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	WNT7B_ENST00000409496.3_Missense_Mutation_p.R82C|WNT7B_ENST00000410058.1_Missense_Mutation_p.R78C|WNT7B_ENST00000410089.1_Missense_Mutation_p.R62C	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	78					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCCGAAGCGGAACTGGTAC	0.652																																																	0													56.0	53.0	54.0					22																	46345866		2203	4300	6503	SO:0001583	missense	0			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.232C>T	22.37:g.46345866G>A	ENSP00000341032:p.Arg78Cys		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.R78C	ENST00000339464.4	37	c.232	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549179	0.86127	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	3.82	3.82	0.43975	.	0.153252	0.44483	U	0.000448	D	0.91270	0.7248	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.94120	0.7378	10	0.87932	D	0	.	14.8554	0.70332	0.0:0.0:1.0:0.0	.	82;78	A8K0G1;P56706	.;WNT7B_HUMAN	C	78;62;82;78;11	ENSP00000341032:R78C;ENSP00000386781:R62C;ENSP00000386546:R82C;ENSP00000387217:R78C;ENSP00000392750:R11C	ENSP00000341032:R78C	R	-	1	0	WNT7B	44724530	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.280000	0.95786	1.961000	0.56991	0.561000	0.74099	CGC	WNT7B	-	pfam_Wnt,smart_Wnt	ENSG00000188064		0.652	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	-	0.00	45	0	G	NM_058238		46345866	-1	tier1	-	no_errors	ENST00000339464	ensembl	human	known	74_37	missense	28.57	29	12	SNP	1.000	A
XRCC6BP1	91419	genome.wustl.edu	37	12	58335569	58335569	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:58335569C>T	ENST00000300145.3	+	1	210	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	29					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCAGGTCTTCCCCGAGCGTCT	0.667																																																	0													14.0	20.0	18.0					12																	58335569		1904	4114	6018	SO:0001583	missense	0			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.85C>T	12.37:g.58335569C>T	ENSP00000300145:p.Pro29Ser		Q1RLM4|Q96E81	Missense_Mutation	SNP	pfam_Peptidase_M76_ATP23	p.P29S	ENST00000300145.3	37	c.85	CCDS41802.1	12	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463164	0.43736	.	.	ENSG00000166896	ENST00000300145	T	0.48522	0.81	4.8	0.816	0.18768	.	0.112189	0.64402	N	0.000008	T	0.28067	0.0692	N	0.19112	0.55	0.47094	D	0.999311	B	0.09022	0.002	B	0.10450	0.005	T	0.04427	-1.0952	10	0.54805	T	0.06	.	6.4658	0.21981	0.1274:0.6583:0.0:0.2143	.	29	Q9Y6H3	ATP23_HUMAN	S	29	ENSP00000300145:P29S	ENSP00000300145:P29S	P	+	1	0	XRCC6BP1	56621836	1.000000	0.71417	0.041000	0.18516	0.009000	0.06853	2.452000	0.44961	0.052000	0.16007	0.650000	0.86243	CCC	XRCC6BP1	-	NULL	ENSG00000166896		0.667	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC6BP1	HGNC	protein_coding	OTTHUMT00000409390.1	-	0.00	89	0	C	NM_033276		58335569	+1	tier1	-	no_errors	ENST00000300145	ensembl	human	known	74_37	missense	28.57	60	24	SNP	1.000	T
YTHDC2	64848	genome.wustl.edu	37	5	112903395	112903395	+	Silent	SNP	C	C	A			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:112903395C>A	ENST00000161863.4	+	23	3306	c.3093C>A	c.(3091-3093)ccC>ccA	p.P1031P		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1031					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGGCACTGCCCACAGATTGGC	0.358																																																	0													75.0	70.0	72.0					5																	112903395		2202	4300	6502	SO:0001819	synonymous_variant	0			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3093C>A	5.37:g.112903395C>A			B2RP66	Silent	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1031	ENST00000161863.4	37	c.3093	CCDS4113.1	5																																																																																			YTHDC2	-	pfam_DUF1605	ENSG00000047188		0.358	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2		0.00	28	0	C	NM_022828		112903395	+1			no_errors	ENST00000161863	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	A
ZNF25	219749	genome.wustl.edu	37	10	38246038	38246038	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:38246038G>T	ENST00000302609.7	-	4	360	c.148C>A	c.(148-150)Cat>Aat	p.H50N	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.H50Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTATTCACATGGTAACCTATG	0.388																																																	1	Substitution - Missense(1)	lung(1)											102.0	94.0	96.0					10																	38246038		2203	4300	6503	SO:0001583	missense	0			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.148C>A	10.37:g.38246038G>T	ENSP00000302222:p.His50Asn		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	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.H50N	ENST00000302609.7	37	c.148	CCDS7195.1	10	.	.	.	.	.	.	.	.	.	.	G	5.416	0.261891	0.10239	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.40476	1.03	4.94	-0.954	0.10359	Krueppel-associated box (3);	1.578110	0.03803	N	0.264731	T	0.34978	0.0916	L	0.52126	1.63	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12243	-1.0555	10	0.22706	T	0.39	-1.1525	5.8287	0.18568	0.303:0.1428:0.5542:0.0	.	50	P17030	ZNF25_HUMAN	N	50;14	ENSP00000302222:H50N	ENSP00000302222:H50N	H	-	1	0	ZNF25	38286044	0.001000	0.12720	0.000000	0.03702	0.270000	0.26580	0.005000	0.13129	-0.258000	0.09446	0.555000	0.69702	CAT	ZNF25	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000175395		0.388	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1		0.00	43	0	G	NM_145011, NM_006966		38246038	-1			no_errors	ENST00000302609	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T
ZNF562	54811	genome.wustl.edu	37	19	9763755	9763755	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:9763755G>T	ENST00000448622.1	-	6	1313	c.1151C>A	c.(1150-1152)tCt>tAt	p.S384Y	ZNF562_ENST00000293648.4_Missense_Mutation_p.S312Y|ZNF562_ENST00000453792.2_Missense_Mutation_p.S315Y|ZNF562_ENST00000590155.1_Missense_Mutation_p.S383Y|ZNF562_ENST00000541032.1_Missense_Mutation_p.S347Y|ZNF562_ENST00000537617.1_Missense_Mutation_p.S268Y|ZNF562_ENST00000453372.2_Missense_Mutation_p.S384Y	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGCGTTGAAGATCTATTGAA	0.423																																																	0													126.0	118.0	121.0					19																	9763755		2203	4300	6503	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1151C>A	19.37:g.9763755G>T	ENSP00000411784:p.Ser384Tyr		Q32MN2|Q9NXS5	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.S384Y	ENST00000448622.1	37	c.1151	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661680	0.29515	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.01209	5.17;5.17;5.17;5.17;5.17;5.17	1.52	0.371	0.16168	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	M	0.80508	2.5	0.09310	N	1	D;D;D;D;D	0.69078	0.987;0.99;0.978;0.995;0.997	P;D;P;P;D	0.69142	0.838;0.962;0.601;0.795;0.931	T	0.38200	-0.9672	9	0.29301	T	0.29	.	3.7186	0.08448	0.0:0.2773:0.4418:0.2809	.	268;383;347;384;312	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	Y	384;384;312;347;315;268	ENSP00000410734:S384Y;ENSP00000411784:S384Y;ENSP00000293648:S312Y;ENSP00000442614:S347Y;ENSP00000440451:S315Y;ENSP00000445816:S268Y	ENSP00000293648:S312Y	S	-	2	0	ZNF562	9624755	0.000000	0.05858	0.000000	0.03702	0.396000	0.30629	-1.223000	0.02962	0.168000	0.19655	0.313000	0.20887	TCT	ZNF562	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.423	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1		0.00	92	0	G	NM_017656		9763755	-1			no_errors	ENST00000448622	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T
ZNF608	57507	genome.wustl.edu	37	5	123972613	123972614	+	3'UTR	INS	-	-	A	rs70991633	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:123972613_123972614insA	ENST00000306315.5	-	0	5953_5954				ZNF608_ENST00000504926.1_3'UTR|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608								metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGCCattatttaaaaaaaaaaa	0.248													|||unknown(HR)	2155	0.430312	0.267	0.5375	5008	,	,		16774	0.5982		0.3569	False		,,,				2504	0.4775																0																																										SO:0001624	3_prime_UTR_variant	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.*980->T	5.37:g.123972624_123972624dupA			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	RNA	INS	-	NULL	ENST00000306315.5	37	NULL	CCDS34219.1	5																																																																																			ZNF608	-	-	ENSG00000168916		0.248	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1		0.00	23	0	-	XM_114432		123972614	-1	tier1		no_errors	ENST00000513985	ensembl	human	known	74_37	rna	16.67	10	2	INS	0.291:0.200	A
ZNF615	284370	genome.wustl.edu	37	19	52497000	52497000	+	Silent	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:52497000G>T	ENST00000602063.1	-	6	1678	c.1329C>A	c.(1327-1329)ctC>ctA	p.L443L	ZNF615_ENST00000594083.1_Silent_p.L454L|ZNF615_ENST00000376716.5_Silent_p.L443L|ZNF615_ENST00000391795.3_Silent_p.L448L|ZNF615_ENST00000598071.1_Silent_p.L454L			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	443					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GATGTCTGATGAGTGGGCTCT	0.443																																																	0													90.0	76.0	81.0					19																	52497000		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1329C>A	19.37:g.52497000G>T			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	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.L454	ENST00000602063.1	37	c.1362	CCDS12846.1	19																																																																																			ZNF615	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197619		0.443	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	-	0.00	59	0	G	NM_198480		52497000	-1	tier1	-	no_errors	ENST00000594083	ensembl	human	known	74_37	silent	30.23	30	13	SNP	0.010	T
ZNF638	27332	genome.wustl.edu	37	2	71650383	71650383	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:71650383G>T	ENST00000409544.1	+	22	4369	c.3739G>T	c.(3739-3741)Gca>Tca	p.A1247S	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1247S|ZNF638_ENST00000409407.1_Missense_Mutation_p.A187S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1247	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCCATCTGAAGCAGAAGATTT	0.363																																																	0													59.0	62.0	61.0					2																	71650383		2203	4300	6503	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3739G>T	2.37:g.71650383G>T	ENSP00000386433:p.Ala1247Ser		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.A1247S	ENST00000409544.1	37	c.3739	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869281	0.32977	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.32753	1.44;1.44;1.82	5.43	1.02	0.19986	.	0.538297	0.17009	N	0.190590	T	0.15046	0.0363	N	0.19112	0.55	0.80722	D	1	B;B;B	0.31077	0.147;0.229;0.307	B;B;B	0.31495	0.062;0.131;0.089	T	0.09207	-1.0685	10	0.11485	T	0.65	-1.9276	6.3178	0.21200	0.4797:0.0:0.5203:0.0	.	1247;1247;1247	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	S	826;1247;1247;187;187	ENSP00000264447:A1247S;ENSP00000386433:A1247S;ENSP00000386813:A187S	ENSP00000264447:A1247S	A	+	1	0	ZNF638	71503891	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	0.527000	0.22987	0.347000	0.23924	0.655000	0.94253	GCA	ZNF638	-	NULL	ENSG00000075292		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	-	0.00	41	0	G	NM_014497		71650383	+1	tier1	-	no_errors	ENST00000264447	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.998	T
ZNF668	79759	genome.wustl.edu	37	16	31075398	31075398	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:31075398C>T	ENST00000538906.1	-	2	1167	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ZNF668_ENST00000300849.4_Missense_Mutation_p.R128H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R128H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R151H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R151H|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000535577.1_Missense_Mutation_p.R128H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	128					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)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGTGCACGCGCAGGCACAC	0.711																																					Colon(181;1111 1980 5060 10512 25785)												0													23.0	22.0	22.0					16																	31075398		2195	4296	6491	SO:0001583	missense	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.383G>A	16.37:g.31075398C>T	ENSP00000440149:p.Arg128His		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R151H	ENST00000538906.1	37	c.452	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372206	0.61624	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061581	0.64402	D	0.000016	T	0.29355	0.0731	L	0.50919	1.6	0.40316	D	0.978779	D	0.71674	0.998	P	0.61201	0.885	T	0.00865	-1.1535	10	0.37606	T	0.19	-33.9223	10.6313	0.45538	0.0:0.9109:0.0:0.0891	.	128	Q96K58	ZN668_HUMAN	H	151;128;128;128;128	ENSP00000442573:R151H;ENSP00000441349:R128H;ENSP00000440149:R128H;ENSP00000378434:R128H;ENSP00000300849:R128H	ENSP00000300849:R128H	R	-	2	0	ZNF668	30982899	0.002000	0.14202	0.991000	0.47740	0.354000	0.29330	1.742000	0.38248	2.566000	0.86566	0.455000	0.32223	CGC	ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167394		0.711	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2		0.00	28	0	C	NM_024706		31075398	-1			no_errors	ENST00000426488	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.994	T
ZNF804A	91752	genome.wustl.edu	37	2	185803171	185803171	+	Silent	SNP	T	T	C			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:185803171T>C	ENST00000302277.6	+	4	3642	c.3048T>C	c.(3046-3048)acT>acC	p.T1016T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1016							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTGGTCATACTTTTGTAACAG	0.403																																																	0													96.0	92.0	93.0					2																	185803171		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3048T>C	2.37:g.185803171T>C			A7E253|Q6ZN26	Silent	SNP	pfam_Znf_C2H2_jaz	p.T1016	ENST00000302277.6	37	c.3048	CCDS2291.1	2																																																																																			ZNF804A	-	NULL	ENSG00000170396		0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0.00	27	0	T	NM_194250		185803171	+1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	silent	39.47	23	15	SNP	0.532	C
