#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
AARS2	57505	genome.wustl.edu	37	6	44272859	44272859	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:44272859C>T	ENST00000244571.4	-	11	1513	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.R504H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACTCCTTGGCGCTGCAGCTC	0.627											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											105.0	95.0	98.0					6																	44272859		2203	4300	6503	SO:0001583	missense	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1511G>A	6.37:g.44272859C>T	ENSP00000244571:p.Arg504His	922		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R504H	ENST00000244571.4	37	c.1511	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428981	0.43122	.	.	ENSG00000124608	ENST00000244571	T	0.72051	-0.62	5.01	0.081	0.14423	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.185095	0.45606	N	0.000360	T	0.32376	0.0827	N	0.25332	0.735	0.09310	N	1	B	0.24317	0.101	B	0.17433	0.018	T	0.28299	-1.0048	10	0.39692	T	0.17	-3.2804	9.8334	0.40956	0.0:0.6535:0.0:0.3465	.	504	Q5JTZ9	SYAM_HUMAN	H	504	ENSP00000244571:R504H	ENSP00000244571:R504H	R	-	2	0	AARS2	44380837	0.000000	0.05858	0.875000	0.34327	0.827000	0.46813	-0.054000	0.11826	-0.048000	0.13401	-0.170000	0.13304	CGC	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2		0.00	39	0	C	NM_020745		44272859	-1			no_errors	ENST00000244571	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.015	T
ABCC2	1244	genome.wustl.edu	37	10	101560169	101560169	+	Missense_Mutation	SNP	G	G	T	rs7080681	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:101560169G>T	ENST00000370449.4	+	9	1171	c.1058G>T	c.(1057-1059)cGt>cTt	p.R353L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	353	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> H (altered transporter activity; dbSNP:rs7080681). {ECO:0000269|PubMed:22290738}.		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)	GCAAGTGACCGTGACACATAT	0.463																																																	0													380.0	359.0	366.0					10																	101560169		2203	4300	6503	SO:0001583	missense	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.1058G>T	10.37:g.101560169G>T	ENSP00000359478:p.Arg353Leu		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.R353L	ENST00000370449.4	37	c.1058	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180282	0.57800	.	.	ENSG00000023839	ENST00000370449	D	0.94687	-3.49	5.8	-11.6	0.00059	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.918670	0.02241	N	0.065779	D	0.87398	0.6167	N	0.25286	0.73	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.74435	-0.3666	10	0.35671	T	0.21	17.8589	10.6955	0.45896	0.293:0.5623:0.0834:0.0614	.	353	Q92887	MRP2_HUMAN	L	353	ENSP00000359478:R353L	ENSP00000359478:R353L	R	+	2	0	ABCC2	101550159	0.000000	0.05858	0.000000	0.03702	0.608000	0.37181	-1.726000	0.01861	-2.475000	0.00527	0.561000	0.74099	CGT	ABCC2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.463	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0.00	61	0	G	NM_000392		101560169	+1	tier1	-	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T
ADCK4	79934	genome.wustl.edu	37	19	41209522	41209522	+	Silent	SNP	G	G	A	rs55973839		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:41209522G>A	ENST00000324464.3	-	9	1024	c.723C>T	c.(721-723)ccC>ccT	p.P241P	ADCK4_ENST00000243583.6_Silent_p.P200P|ADCK4_ENST00000450541.1_Silent_p.P200P	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	241	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGGCTATGCCGGGGTACTGTA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17118	0.001		0.0	False		,,,				2504	0.0																0								G	,	0,4406		0,0,2203	58.0	60.0	59.0		600,723	-4.6	0.3	19	dbSNP_129	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ADCK4	NM_001142555.2,NM_024876.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	200/504,241/545	41209522	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.723C>T	19.37:g.41209522G>A			Q8TAJ1|Q9HA52	Missense_Mutation	SNP	NULL	p.P114L	ENST00000324464.3	37	c.341	CCDS12562.1	19																																																																																			ADCK4	-	NULL	ENSG00000123815		0.652	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1	-	0.00	19	0	G	NM_024876		41209522	-1	tier1	-	no_errors	ENST00000599643	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.753	A
AFF1	4299	genome.wustl.edu	37	4	88029432	88029432	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:88029432G>A	ENST00000307808.6	+	10	1897	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	AFF1_ENST00000395146.4_Missense_Mutation_p.E500K|AFF1_ENST00000544085.1_Missense_Mutation_p.E131K	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	493					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)		AAGTGACAGCGAAGAAAATGA	0.532																																																	0													94.0	90.0	91.0					4																	88029432		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.1477G>A	4.37:g.88029432G>A	ENSP00000305689:p.Glu493Lys		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E500K	ENST00000307808.6	37	c.1498	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.153595	0.94645	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.7	5.7	0.88788	.	0.136846	0.49916	D	0.000130	D	0.88738	0.6518	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67103	0.949;0.949;0.949	D	0.86078	0.1542	10	0.24483	T	0.36	-15.6693	19.8411	0.96685	0.0:0.0:1.0:0.0	.	500;493;493	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	K	500;152;493;131;131;184	ENSP00000378578:E500K;ENSP00000305689:E493K;ENSP00000424766:E131K;ENSP00000440843:E131K;ENSP00000424881:E184K	ENSP00000305689:E493K	E	+	1	0	AFF1	88248456	1.000000	0.71417	0.958000	0.39756	0.983000	0.72400	8.657000	0.91106	2.683000	0.91414	0.655000	0.94253	GAA	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.532	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	-	0.00	57	0	G	NM_005935		88029432	+1	tier1	-	no_errors	ENST00000395146	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	A
AJAP1	55966	genome.wustl.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-	rs141981296	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CCA	CCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																																	1	Insertion - In frame(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del		Q9Y229	In_Frame_Del	DEL	NULL	p.T222in_frame_del	ENST00000378191.4	37	c.653_655	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3		0.00	79	0	CCA	NM_018836		4772585	+1			no_errors	ENST00000378190	ensembl	human	known	74_37	in_frame_del	5.33	71	4	DEL	0.919:0.855:0.873	0
ALG13	79868	genome.wustl.edu	37	X	110988002	110988002	+	Silent	SNP	T	T	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:110988002T>A	ENST00000394780.3	+	24	2814	c.2802T>A	c.(2800-2802)ccT>ccA	p.P934P	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	934	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P934P(4)		endometrium(2)|lung(10)|skin(1)	13						caccacctcctcctcctcctc	0.567																																																	4	Substitution - coding silent(4)	endometrium(4)											10.0	9.0	9.0					X																	110988002		1505	3424	4929	SO:0001819	synonymous_variant	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2802T>A	X.37:g.110988002T>A			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor	p.P934	ENST00000394780.3	37	c.2802	CCDS55477.1	X																																																																																			ALG13	-	NULL	ENSG00000101901		0.567	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1		0.00	14	0	T	NM_018466		110988002	+1			no_errors	ENST00000394780	ensembl	human	putative	74_37	silent	18.18	18	4	SNP	0.000	A
ANKFN1	162282	genome.wustl.edu	37	17	54576434	54576434	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:54576434G>A	ENST00000566473.2	+	19	2628	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E				Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	0										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CATCCCCAGAGATGCACAGAA	0.443																																																	0																																										SO:0001819	synonymous_variant	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000566473.2:c.2628G>A	17.37:g.54576434G>A				Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.E876	ENST00000566473.2	37	c.2628		17																																																																																			ANKFN1	-	NULL	ENSG00000153930		0.443	ANKFN1-002	NOVEL	basic|exp_conf	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000435456.2	-	0.00	48	0	G	NM_153228		54576434	+1	tier1	-	no_errors	ENST00000566473	ensembl	human	novel	74_37	silent	22.58	48	14	SNP	0.968	A
ANKS1A	23294	genome.wustl.edu	37	6	35050978	35050978	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:35050978C>T	ENST00000360359.3	+	19	3020	c.2882C>T	c.(2881-2883)aCg>aTg	p.T961M	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	961	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACAGAATCCACGCAAGACGCC	0.617																																																	0													71.0	60.0	63.0					6																	35050978		2203	4300	6503	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2882C>T	6.37:g.35050978C>T	ENSP00000353518:p.Thr961Met		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.T961M	ENST00000360359.3	37	c.2882	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002085	0.74932	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.14893	2.47	4.48	2.72	0.32119	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.50627	D	0.000107	T	0.28499	0.0705	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.982;0.989;0.997	T	0.07986	-1.0744	10	0.87932	D	0	-11.5558	10.4461	0.44495	0.0:0.8424:0.0:0.1576	.	287;287;961	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	M	961;287	ENSP00000353518:T961M	ENSP00000353518:T961M	T	+	2	0	ANKS1A	35158956	1.000000	0.71417	0.549000	0.28204	0.909000	0.53808	4.814000	0.62627	0.532000	0.28657	0.609000	0.83330	ACG	ANKS1A	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000064999		0.617	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1		0.00	26	0	C	XM_166478		35050978	+1			no_errors	ENST00000360359	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
ANO4	121601	genome.wustl.edu	37	12	101188779	101188781	+	5'UTR	DEL	CTT	CTT	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:101188779_101188781delCTT	ENST00000392977.3	+	0	44_46				ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000538618.1_Intron|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCCCTTCTCCTTCTGTTGACTC	0.502										HNSCC(74;0.22)																																							0																																										SO:0001623	5_prime_UTR_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.-165CTT>-	12.37:g.101188779_101188781delCTT			Q8NAJ0|Q8NB39|Q8NB53	RNA	DEL	-	NULL	ENST00000392977.3	37	NULL		12																																																																																			ANO4	-	-	ENSG00000151572		0.502	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1		0.00	78	0	CTT	NM_178826		101188781	+1	tier1		no_errors	ENST00000551148	ensembl	human	putative	74_37	rna	30.51	41	18	DEL	0.788:0.913:0.909	-
ARFGEF1	10565	genome.wustl.edu	37	8	68111035	68111035	+	3'UTR	SNP	G	G	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:68111035G>C	ENST00000262215.3	-	0	6073				ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTTGAGTAAGACTTCTAAGC	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.*134C>G	8.37:g.68111035G>C			Q9NV46|Q9UFV2|Q9UNL0	RNA	SNP	-	NULL	ENST00000262215.3	37	NULL	CCDS6199.1	8																																																																																			ARFGEF1	-	-	ENSG00000066777		0.428	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	-	0.00	64	0	G	NM_006421		68111035	-1	tier1	-	no_errors	ENST00000517955	ensembl	human	putative	74_37	rna	23.53	65	20	SNP	0.000	C
ARSJ	79642	genome.wustl.edu	37	4	114823764	114823764	+	Missense_Mutation	SNP	G	G	T	rs573816231		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:114823764G>T	ENST00000315366.7	-	2	2332	c.1466C>A	c.(1465-1467)aCt>aAt	p.T489N	ARSJ_ENST00000541197.1_Missense_Mutation_p.T489N	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	489					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ACTTTTGCCAGTTGACAAGGT	0.522																																																	0													95.0	90.0	92.0					4																	114823764		1940	4147	6087	SO:0001583	missense	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1466C>A	4.37:g.114823764G>T	ENSP00000320219:p.Thr489Asn		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.T489N	ENST00000315366.7	37	c.1466	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	G	8.652	0.898465	0.17686	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.92446	-3.04;-3.04	5.3	5.3	0.74995	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.879365	0.09932	N	0.737091	D	0.87450	0.6180	N	0.20483	0.58	0.09310	N	1	P;B	0.34864	0.473;0.27	B;B	0.36030	0.124;0.216	T	0.79082	-0.1949	10	0.38643	T	0.18	.	14.5509	0.68065	0.0:0.1461:0.8539:0.0	.	489;489	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	N	489;489;58	ENSP00000320219:T489N;ENSP00000438836:T489N	ENSP00000320219:T489N	T	-	2	0	ARSJ	115043213	0.773000	0.28580	0.882000	0.34594	0.844000	0.47949	2.406000	0.44557	2.484000	0.83849	0.655000	0.94253	ACT	ARSJ	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000180801		0.522	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1		0.00	73	0	G	NM_024590		114823764	-1			no_errors	ENST00000315366	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.048	T
ASB16	92591	genome.wustl.edu	37	17	42254032	42254032	+	Intron	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:42254032G>T	ENST00000293414.1	+	3	653				ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAAAGGCAAGGGAGTGTCAC	0.557																																																	0													116.0	112.0	113.0					17																	42254032		2203	4300	6503	SO:0001627	intron_variant	0			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.570-74G>T	17.37:g.42254032G>T			B2RBC0|Q8WXK0	RNA	SNP	-	NULL	ENST00000293414.1	37	NULL	CCDS11478.1	17																																																																																			ASB16-AS1	-	-	ENSG00000267080		0.557	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16-AS1	HGNC	protein_coding	OTTHUMT00000457703.1		0.00	53	0	G			42254032	-1			no_errors	ENST00000585457	ensembl	human	known	74_37	rna	5.71	66	4	SNP	0.000	T
ASB8	140461	genome.wustl.edu	37	12	48543170	48543173	+	Frame_Shift_Del	DEL	TTCC	TTCC	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TTCC	TTCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:48543170_48543173delTTCC	ENST00000317697.3	-	4	1012_1015	c.843_846delGGAA	c.(841-846)aaggaafs	p.KE281fs	ASB8_ENST00000537754.1_5'Flank|ASB8_ENST00000536549.1_Frame_Shift_Del_p.KE281fs	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	281	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GTAACAGGTATTCCTTCAAAGAAG	0.525																																																	0																																										SO:0001589	frameshift_variant	0			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.843_846delGGAA	12.37:g.48543170_48543173delTTCC	ENSP00000320893:p.Lys281fs		A8K1P2|Q547Q2	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.K281fs	ENST00000317697.3	37	c.846_843	CCDS8761.1	12																																																																																			ASB8	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000177981		0.525	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB8	HGNC	protein_coding	OTTHUMT00000396497.1		0.00	37	0	TTCC			48543173	-1	tier1		no_errors	ENST00000317697	ensembl	human	known	74_37	frame_shift_del	32.26	21	10	DEL	0.993:1.000:1.000:0.999	-
ATRN	8455	genome.wustl.edu	37	20	3564710	3564710	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:3564710A>G	ENST00000262919.5	+	17	2998	c.2930A>G	c.(2929-2931)tAt>tGt	p.Y977C	ATRN_ENST00000446916.2_Missense_Mutation_p.Y977C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	977	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGGAATGGTATACGATGAGC	0.542																																																	0													290.0	239.0	256.0					20																	3564710		2203	4300	6503	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2930A>G	20.37:g.3564710A>G	ENSP00000262919:p.Tyr977Cys		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.Y977C	ENST00000262919.5	37	c.2930	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	A	16.15	3.043081	0.55003	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.16897	3.39;2.31	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	L	0.43152	1.355	0.80722	D	1	B;D	0.71674	0.04;0.998	B;D	0.63113	0.015;0.911	T	0.01283	-1.1396	10	0.44086	T	0.13	-19.1756	15.5155	0.75822	1.0:0.0:0.0:0.0	.	977;977	O75882;O75882-2	ATRN_HUMAN;.	C	977;977;903	ENSP00000262919:Y977C;ENSP00000416587:Y977C	ENSP00000262919:Y977C	Y	+	2	0	ATRN	3512710	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.301000	0.96167	2.137000	0.66172	0.477000	0.44152	TAT	ATRN	-	pfam_Plexin_repeat,smart_Plexin-like_fold	ENSG00000088812		0.542	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	-	0.00	54	0	A	NM_139321		3564710	+1	tier1	-	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	31.34	46	21	SNP	1.000	G
ASXL1	171023	genome.wustl.edu	37	20	31022592	31022592	+	Nonsense_Mutation	SNP	C	C	T	rs373221034		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:31022592C>T	ENST00000375687.4	+	13	2501	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	693					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R693*(7)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGATCTACAGCGAACACAACT	0.592			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	7	Substitution - Nonsense(7)	haematopoietic_and_lymphoid_tissue(7)						C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	45.0	47.0		2077	5.2	1.0	20		47	0,8600		0,0,4300	no	stop-gained	ASXL1	NM_015338.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		693/1542	31022592	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2077C>T	20.37:g.31022592C>T	ENSP00000364839:p.Arg693*		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	NULL	p.R693*	ENST00000375687.4	37	c.2077	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	42	9.378362	0.99153	2.27E-4	0.0	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.22	5.22	0.72569	.	0.298911	0.31834	N	0.006992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3403	19.3627	0.94446	0.0:1.0:0.0:0.0	.	.	.	.	X	693;693;693;614;688	.	ENSP00000305119:R688X	R	+	1	2	ASXL1	30486253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.216000	0.51176	2.894000	0.99253	0.655000	0.94253	CGA	ASXL1	-	NULL	ENSG00000171456		0.592	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0.00	62	0	C	NM_015338		31022592	+1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	nonsense	40.43	56	38	SNP	1.000	T
B4GALNT1	2583	genome.wustl.edu	37	12	58023911	58023911	+	Intron	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:58023911C>T	ENST00000341156.4	-	6	1297				B4GALNT1_ENST00000550764.1_Missense_Mutation_p.G246R|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.G246R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCAGCCTGCCCGTCTCTCCAC	0.582																																																	0													68.0	53.0	58.0					12																	58023911		2203	4300	6503	SO:0001627	intron_variant	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.712+23G>A	12.37:g.58023911C>T			B4DE26|Q8N636	Missense_Mutation	SNP	NULL	p.G246R	ENST00000341156.4	37	c.736	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	10.92	1.486827	0.26686	.	.	ENSG00000135454	ENST00000550764;ENST00000552350	T;T	0.40476	1.03;1.03	4.64	1.67	0.24075	.	.	.	.	.	T	0.16214	0.0390	.	.	.	0.09310	N	1	B	0.20988	0.05	B	0.16722	0.016	T	0.29397	-1.0013	8	0.06236	T	0.91	.	3.3089	0.07010	0.1747:0.4351:0.2984:0.0918	.	246	Q8N636	.	R	246	ENSP00000450303:G246R;ENSP00000448500:G246R	ENSP00000450303:G246R	G	-	1	0	B4GALNT1	56310178	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.053000	0.11846	0.247000	0.21414	-0.355000	0.07637	GGG	B4GALNT1	-	NULL	ENSG00000135454		0.582	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	-	0.00	64	0	C	NM_001478		58023911	-1	tier1	-	no_errors	ENST00000550764	ensembl	human	putative	74_37	missense	34.78	30	16	SNP	0.000	T
B4GALT6	9331	genome.wustl.edu	37	18	29264323	29264325	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr18:29264323_29264325delAGA	ENST00000306851.5	-	1	361_363	c.65_67delTCT	c.(64-69)ttctcc>tcc	p.F22del	RP11-549B18.1_ENST00000565978.1_RNA|B4GALT6_ENST00000383131.3_In_Frame_Del_p.F22del|B4GALT6_ENST00000237019.7_In_Frame_Del_p.F22del	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	22					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GAAGAGAGGGAGAAGAAGAAGAT	0.586																																																	0										1,4263		0,1,2131						4.6	1.0			179	2,8252		0,2,4125	no	coding	B4GALT6	NM_004775.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001651	inframe_deletion	0			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.65_67delTCT	18.37:g.29264332_29264334delAGA	ENSP00000306459:p.Phe22del		O60514|Q6NT09	In_Frame_Del	DEL	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.F22in_frame_del	ENST00000306851.5	37	c.67_65	CCDS11900.1	18																																																																																			B4GALT6	-	NULL	ENSG00000118276		0.586	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2		0.00	89	0	AGA	NM_004775		29264325	-1	tier1		no_errors	ENST00000306851	ensembl	human	known	74_37	in_frame_del	30.14	51	22	DEL	1.000:1.000:1.000	-
BARD1	580	genome.wustl.edu	37	2	215646207	215646208	+	Frame_Shift_Del	DEL	TT	TT	-	rs554652893		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:215646207_215646208delTT	ENST00000260947.4	-	4	524_525	c.390_391delAA	c.(388-393)aaaagtfs	p.S131fs	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	131					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTAAACAAACTTTTCCTAGGTT	0.337									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.390_391delAA	2.37:g.215646209_215646210delTT	ENSP00000260947:p.Ser131fs		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.S131fs	ENST00000260947.4	37	c.391_390	CCDS2397.1	2																																																																																			BARD1	-	NULL	ENSG00000138376		0.337	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1		0.00	30	0	TT	NM_000465		215646208	-1	tier1		no_errors	ENST00000260947	ensembl	human	known	74_37	frame_shift_del	54.00	23	27	DEL	0.000:0.001	-
BCKDHB	594	genome.wustl.edu	37	6	80880998	80880998	+	Splice_Site	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:80880998G>A	ENST00000320393.6	+	6	680		c.e6-1		BCKDHB_ENST00000356489.5_Splice_Site|BCKDHB_ENST00000545529.1_Splice_Site	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TGTTTTTGCAGGTGGTTATAC	0.313																																																	0													27.0	31.0	30.0					6																	80880998		2203	4298	6501	SO:0001630	splice_region_variant	0			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.634-1G>A	6.37:g.80880998G>A			Q5T2J3|Q9BQL0	Splice_Site	SNP	-	e6-1	ENST00000320393.6	37	c.634-1	CCDS4994.1	6	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405806	0.83230	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.742	0.91777	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCKDHB	80937717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.938000	0.92943	2.690000	0.91761	0.655000	0.94253	.	BCKDHB	-	-	ENSG00000083123		0.313	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	HGNC	protein_coding	OTTHUMT00000043911.2	-	0.00	181	0	G	NM_000056	Intron	80880998	+1	tier1	-	no_errors	ENST00000320393	ensembl	human	known	74_37	splice_site	27.46	176	67	SNP	1.000	A
BICD1	636	genome.wustl.edu	37	12	32490722	32490722	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:32490722C>T	ENST00000281474.5	+	7	2645	c.2542C>T	c.(2542-2544)Cgg>Tgg	p.R848W	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	848					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACCCAACATTCGGGTCAGCAG	0.507																																																	0													110.0	101.0	104.0					12																	32490722		2203	4300	6503	SO:0001583	missense	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2542C>T	12.37:g.32490722C>T	ENSP00000281474:p.Arg848Trp		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.R848W	ENST00000281474.5	37	c.2542	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207218	0.39003	.	.	ENSG00000151746	ENST00000281474	T	0.48522	0.81	4.9	2.98	0.34508	.	0.156118	0.30302	N	0.009924	T	0.21022	0.0506	N	0.08118	0	0.80722	D	1	P	0.51537	0.946	B	0.33521	0.165	T	0.02885	-1.1098	9	.	.	.	.	12.1608	0.54103	0.2968:0.7032:0.0:0.0	.	848	Q96G01	BICD1_HUMAN	W	848	ENSP00000281474:R848W	.	R	+	1	2	BICD1	32381989	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.533000	0.45667	0.600000	0.29862	0.591000	0.81541	CGG	BICD1	-	NULL	ENSG00000151746		0.507	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1		0.00	34	0	C	NM_001714		32490722	+1			no_errors	ENST00000281474	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
BID	637	genome.wustl.edu	37	22	18220885	18220887	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:18220885_18220887delCTT	ENST00000399774.3	-	5	641_643	c.472_474delAAG	c.(472-474)aagdel	p.K158del	BID_ENST00000473439.1_5'UTR|BID_ENST00000342111.5_3'UTR|BID_ENST00000317361.7_In_Frame_Del_p.K204del|BID_ENST00000399765.1_In_Frame_Del_p.K62del|BID_ENST00000551952.1_In_Frame_Del_p.K158del|BID_ENST00000399767.1_In_Frame_Del_p.K62del	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	158					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.K203_A206delKKVA(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GACTGGCCACCTTCTTGGCCAGC	0.567																																																	1	Deletion - In frame(1)	breast(1)																																								SO:0001651	inframe_deletion	0			AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.472_474delAAG	22.37:g.18220888_18220890delCTT	ENSP00000382674:p.Lys158del		Q549M7|Q71T04|Q7Z4M9|Q8IY86	In_Frame_Del	DEL	pfam_BID	p.K204in_frame_del	ENST00000399774.3	37	c.612_610	CCDS13748.1	22																																																																																			BID	-	pfam_BID	ENSG00000015475		0.567	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BID	HGNC	protein_coding	OTTHUMT00000316178.1		0.00	43	0	CTT	NM_197966		18220887	-1	tier1		no_errors	ENST00000317361	ensembl	human	known	74_37	in_frame_del	28.07	41	16	DEL	1.000:1.000:1.000	-
C11orf1	64776	genome.wustl.edu	37	11	111753212	111753212	+	Silent	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:111753212C>A	ENST00000260276.3	+	2	503	c.166C>A	c.(166-168)Cga>Aga	p.R56R	C11orf1_ENST00000529270.1_Silent_p.R96R|C11orf1_ENST00000528125.1_Silent_p.R10R|C11orf1_ENST00000530214.1_Silent_p.R56R	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	56						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		GTATGGATGGCGATGCACCAC	0.468																																																	0													138.0	114.0	122.0					11																	111753212		2201	4297	6498	SO:0001819	synonymous_variant	0			AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.166C>A	11.37:g.111753212C>A			Q6I9X7|Q9NQC6	Silent	SNP	pfam_UPF0686	p.R56	ENST00000260276.3	37	c.166	CCDS8350.1	11																																																																																			C11orf1	-	pfam_UPF0686	ENSG00000137720		0.468	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf1	HGNC	protein_coding	OTTHUMT00000391650.1	-	0.00	58	0	C	NM_022761		111753212	+1	tier1	-	no_errors	ENST00000260276	ensembl	human	known	74_37	silent	20.69	46	12	SNP	1.000	A
C1QL3	389941	genome.wustl.edu	37	10	16556665	16556665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:16556665G>T	ENST00000298943.3	-	2	1569	c.630C>A	c.(628-630)taC>taA	p.Y210*		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	210	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGGCATAGTCGTAATTCTGAT	0.408																																																	0													100.0	84.0	90.0					10																	16556665		2203	4299	6502	SO:0001587	stop_gained	0				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.630C>A	10.37:g.16556665G>T	ENSP00000298943:p.Tyr210*		A0PJY4|A0PJY5	Nonsense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.Y210*	ENST00000298943.3	37	c.630	CCDS31156.1	10	.	.	.	.	.	.	.	.	.	.	G	44	10.699151	0.99452	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	.	.	.	5.66	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4187	0.32687	0.2931:0.0:0.7069:0.0	.	.	.	.	X	210;187	.	ENSP00000298943:Y210X	Y	-	3	2	C1QL3	16596671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.466000	0.45084	0.754000	0.32968	0.655000	0.94253	TAC	C1QL3	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q	ENSG00000165985		0.408	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL3	HGNC	protein_coding	OTTHUMT00000047003.1	-	0.00	48	0	G	XM_372305		16556665	-1	tier1	-	no_errors	ENST00000298943	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T
PRR34	55267	genome.wustl.edu	37	22	46449699	46449699	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:46449699C>G	ENST00000396008.2	-	1	325	c.275G>C	c.(274-276)cGg>cCg	p.R92P	RP6-109B7.3_ENST00000445441.1_RNA|RP6-109B7.3_ENST00000416202.1_RNA|RP6-109B7.3_ENST00000451166.1_RNA|RP6-109B7.2_ENST00000439423.1_lincRNA|RP6-109B7.5_ENST00000608644.1_RNA|FLJ27365_ENST00000381051.2_5'Flank|C22orf26_ENST00000333761.1_Missense_Mutation_p.R92P			Q9NV39	PRR34_HUMAN		92													Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTCGCCGCCGAGCTCGGGC	0.746																																																	0													3.0	4.0	4.0					22																	46449699		1560	3403	4963	SO:0001583	missense	0																														ENST00000396008.2:c.275G>C	22.37:g.46449699C>G	ENSP00000379329:p.Arg92Pro		B0QZ24	Missense_Mutation	SNP	NULL	p.R92P	ENST00000396008.2	37	c.275	CCDS14071.1	22	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573341	0.45902	.	.	ENSG00000182257	ENST00000396008;ENST00000333761	T;T	0.39787	1.06;1.06	3.11	-0.284	0.12870	.	.	.	.	.	T	0.25158	0.0611	N	0.08118	0	0.24333	N	0.994996	D	0.54772	0.968	P	0.49528	0.614	T	0.11991	-1.0565	9	0.87932	D	0	.	2.5145	0.04665	0.246:0.4805:0.0:0.2735	.	92	Q9NV39	CV026_HUMAN	P	92	ENSP00000379329:R92P;ENSP00000327764:R92P	ENSP00000327764:R92P	R	-	2	0	C22orf26	44828363	0.958000	0.32768	0.994000	0.49952	0.985000	0.73830	-0.544000	0.06077	0.003000	0.14656	0.650000	0.86243	CGG	C22orf26	-	NULL	ENSG00000182257		0.746	C22orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf26	HGNC	protein_coding	OTTHUMT00000317994.1	-	0.00	16	0	C			46449699	-1	tier1	-	no_errors	ENST00000333761	ensembl	human	known	74_37	missense	43.48	12	10	SNP	0.994	G
CARD11	84433	genome.wustl.edu	37	7	2956937	2956937	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:2956937C>A	ENST00000396946.4	-	20	3093	c.2690G>T	c.(2689-2691)gGc>gTc	p.G897V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	897					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGGAGCTGGCCAAAAAGGAA	0.542			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													38.0	50.0	46.0					7																	2956937		2203	4300	6503	SO:0001583	missense	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2690G>T	7.37:g.2956937C>A	ENSP00000380150:p.Gly897Val		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.G897V	ENST00000396946.4	37	c.2690	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686278	0.29962	.	.	ENSG00000198286	ENST00000396946	T	0.30981	1.51	4.99	4.99	0.66335	.	0.132836	0.51477	D	0.000082	T	0.23727	0.0574	L	0.29908	0.895	0.80722	D	1	P	0.45902	0.868	B	0.37692	0.256	T	0.03555	-1.1025	10	0.42905	T	0.14	-37.0122	16.4485	0.83972	0.0:1.0:0.0:0.0	.	897	Q9BXL7	CAR11_HUMAN	V	897	ENSP00000380150:G897V	ENSP00000380150:G897V	G	-	2	0	CARD11	2923463	0.988000	0.35896	0.982000	0.44146	0.875000	0.50365	2.563000	0.45922	2.308000	0.77769	0.561000	0.74099	GGC	CARD11	-	NULL	ENSG00000198286		0.542	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	-	0.00	80	0	C	NM_032415		2956937	-1	tier1	-	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	5.71	99	6	SNP	0.986	A
CCDC180	100499483	genome.wustl.edu	37	9	100079410	100079410	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:100079410G>A	ENST00000357054.1	+	23	2343	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	CCDC180_ENST00000529487.1_Missense_Mutation_p.E331K|CCDC180_ENST00000375202.2_Missense_Mutation_p.E331K|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.E470K|CCDC180_ENST00000411667.2_Missense_Mutation_p.E328K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	470						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAACCTGATGGAGTCCACCCT	0.612																																																	0													73.0	70.0	71.0					9																	100079410		2203	4300	6503	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1408G>A	9.37:g.100079410G>A	ENSP00000349562:p.Glu470Lys		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.E331K	ENST00000357054.1	37	c.991		9	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660869	0.67700	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.28	5.28	0.74379	.	0.263548	0.36778	N	0.002418	T	0.45498	0.1345	M	0.62723	1.935	0.35677	D	0.813768	P;D;D;D	0.89917	0.946;1.0;1.0;1.0	P;D;D;D	0.87578	0.705;0.998;0.998;0.998	T	0.44907	-0.9297	10	0.16420	T	0.52	-26.7652	14.7917	0.69846	0.0:0.0:1.0:0.0	.	328;470;331;470	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	K	470;470;331;328;354;331	ENSP00000349562:E470K;ENSP00000378646:E470K;ENSP00000364348:E331K;ENSP00000414000:E328K;ENSP00000434727:E331K	ENSP00000349562:E470K	E	+	1	0	C9orf174	99119231	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.253000	0.65452	2.654000	0.90174	0.563000	0.77884	GAG	CCDC180	-	NULL	ENSG00000197816		0.612	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0.00	43	0	G	NM_020893		100079410	+1	tier1	-	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	67.35	16	33	SNP	1.000	A
CCDC66	285331	genome.wustl.edu	37	3	56650051	56650051	+	Missense_Mutation	SNP	A	A	T	rs77152637|rs74463118	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:56650051A>T	ENST00000394672.3	+	13	1883	c.1813A>T	c.(1813-1815)Act>Tct	p.T605S	CCDC66_ENST00000436465.2_Missense_Mutation_p.T605S|CCDC66_ENST00000326595.7_Missense_Mutation_p.T571S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	605				T -> TS (in Ref. 3; AAI32828). {ECO:0000305}.	post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATTCTACGACTTCTAAGAA	0.289																																																	0													83.0	96.0	92.0					3																	56650051		2203	4291	6494	SO:0001583	missense	0			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1813A>T	3.37:g.56650051A>T	ENSP00000378167:p.Thr605Ser		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.T605S	ENST00000394672.3	37	c.1813	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.687010	0.00738	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.17370	2.28;2.31;2.3;2.31	5.59	1.92	0.25849	.	0.882722	0.10049	N	0.722482	T	0.12774	0.0310	L	0.54323	1.7	0.09310	N	1	B	0.25272	0.122	B	0.25291	0.059	T	0.42816	-0.9429	10	0.02654	T	1	0.5859	4.5617	0.12163	0.5839:0.1576:0.2585:0.0	.	605	A2RUB6	CCD66_HUMAN	S	561;605;571;605	ENSP00000401451:T561S;ENSP00000378167:T605S;ENSP00000326050:T571S;ENSP00000404320:T605S	ENSP00000326050:T571S	T	+	1	0	CCDC66	56625091	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-0.099000	0.11007	0.161000	0.19458	0.482000	0.46254	ACT	CCDC66	-	NULL	ENSG00000180376		0.289	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1		0.00	40	0	A	NM_001012506		56650051	+1			no_errors	ENST00000394672	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.002	T
CD34	947	genome.wustl.edu	37	1	208063101	208063102	+	Intron	DEL	AA	AA	-	rs3043874|rs397861623	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:208063101_208063102delAA	ENST00000310833.7	-	5	919				CD34_ENST00000356522.4_Intron|CD34_ENST00000485761.1_Intron|CD34_ENST00000537704.1_Intron|CD34_ENST00000367036.3_Frame_Shift_Del_p.S28fs	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule						cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ATTCCAACAGAAAAAAAAAAAA	0.371																																																	0									,	988,105,21,411,2147		152,32,1,70,581,12,0,4,45,2,2,14,48,239,634					,	-2.9	0.0		dbSNP_102	24	3549,564,20,298,3157		701,364,8,56,1719,40,1,2,117,0,0,11,25,190,560	no	intron,intron	CD34	NM_001773.2,NM_001025109.1	,	853,396,9,126,2300,52,1,6,162,2,2,25,73,429,1194	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		53.2288,41.5305,52.8952	,	,		4537,669,41,709,5304				SO:0001627	intron_variant	0			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.598-135TT>-	1.37:g.208063111_208063112delAA			A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Frame_Shift_Del	DEL	pfam_CD34/Podocalyxin,prints_CD34	p.S28fs	ENST00000310833.7	37	c.82_81	CCDS31011.1	1																																																																																			CD34	-	NULL	ENSG00000174059		0.371	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1		0.00	51	0	AA	NM_001773		208063102	-1	tier1		no_errors	ENST00000367036	ensembl	human	known	74_37	frame_shift_del	55.56	32	40	DEL	0.000:0.000	-
CHD8	57680	genome.wustl.edu	37	14	21897312	21897312	+	Silent	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:21897312C>A	ENST00000557364.1	-	3	1289	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L63L|CHD8_ENST00000399982.2_Silent_p.L342L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	342	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGCACCTGCAGCTGGATAG	0.567																																																	0													99.0	114.0	109.0					14																	21897312		2090	4232	6322	SO:0001819	synonymous_variant	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1026G>T	14.37:g.21897312C>A			Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L342	ENST00000557364.1	37	c.1026	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.567	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0.00	74	0	C	NM_020920		21897312	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	silent	33.64	71	36	SNP	1.000	A
CILP2	148113	genome.wustl.edu	37	19	19653755	19653755	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:19653755G>A	ENST00000291495.5	+	6	1036	c.951G>A	c.(949-951)ggG>ggA	p.G317G	CILP2_ENST00000586018.1_Silent_p.G323G	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	317	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AAGCCTCCGGGACCCCCATGC	0.567																																																	0													68.0	72.0	70.0					19																	19653755		2203	4300	6503	SO:0001819	synonymous_variant	0			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.951G>A	19.37:g.19653755G>A			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.G317	ENST00000291495.5	37	c.951	CCDS12405.1	19																																																																																			CILP2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160161		0.567	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	-	0.00	85	0	G	NM_153221		19653755	+1	tier1	-	no_errors	ENST00000291495	ensembl	human	known	74_37	silent	32.26	84	40	SNP	0.989	A
CLEC14A	161198	genome.wustl.edu	37	14	38725089	38725089	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:38725089G>A	ENST00000342213.2	-	1	485	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	47	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGCCTGCCGCTTCATGGTA	0.761																																																	0													4.0	5.0	4.0					14																	38725089		1869	3730	5599	SO:0001583	missense	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.139C>T	14.37:g.38725089G>A	ENSP00000353013:p.Arg47Trp		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R47W	ENST00000342213.2	37	c.139	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646569	0.47258	.	.	ENSG00000176435	ENST00000342213	T	0.36878	1.23	3.96	-2.02	0.07388	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.333064	0.20802	N	0.085409	T	0.33089	0.0851	N	0.14661	0.345	0.09310	N	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.28870	-1.0030	10	0.36615	T	0.2	-13.9423	8.5838	0.33646	0.0874:0.0:0.2006:0.712	.	47	Q86T13	CLC14_HUMAN	W	47	ENSP00000353013:R47W	ENSP00000353013:R47W	R	-	1	2	CLEC14A	37794840	0.019000	0.18553	0.102000	0.21198	0.952000	0.60782	0.773000	0.26661	-0.365000	0.08076	-0.293000	0.09583	CGG	CLEC14A	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000176435		0.761	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	-	0.00	16	0	G	NM_175060		38725089	-1	tier1	-	no_errors	ENST00000342213	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.037	A
CNTN5	53942	genome.wustl.edu	37	11	100064338	100064338	+	Silent	SNP	G	G	T	rs558481129		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:100064338G>T	ENST00000524871.1	+	15	2117	c.1827G>T	c.(1825-1827)ctG>ctT	p.L609L	CNTN5_ENST00000279463.3_Silent_p.L609L|CNTN5_ENST00000418526.2_Silent_p.L535L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.L609L|CNTN5_ENST00000528682.1_Silent_p.L609L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	609	Ig-like C2-type 6.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACTGGACTCTGAAAGGACAGC	0.383																																																	0													98.0	94.0	95.0					11																	100064338		1863	4096	5959	SO:0001819	synonymous_variant	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1827G>T	11.37:g.100064338G>T			A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L609	ENST00000524871.1	37	c.1827	CCDS53696.1	11																																																																																			CNTN5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2		0.00	44	0	G	NM_014361		100064338	+1			no_errors	ENST00000279463	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.003	T
CNTN6	27255	genome.wustl.edu	37	3	1414531	1414531	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:1414531G>C	ENST00000446702.2	+	14	2305	c.1678G>C	c.(1678-1680)Ggg>Cgg	p.G560R	CNTN6_ENST00000539053.1_Missense_Mutation_p.G488R|CNTN6_ENST00000350110.2_Missense_Mutation_p.G560R			Q9UQ52	CNTN6_HUMAN	contactin 6	560	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGAATCTGTTGGGGATTTGAT	0.358																																																	0													147.0	155.0	152.0					3																	1414531		2203	4300	6503	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1678G>C	3.37:g.1414531G>C	ENSP00000407822:p.Gly560Arg		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G560R	ENST00000446702.2	37	c.1678	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578629	0.86645	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.40225	1.04;1.04;1.04	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	T	0.73753	0.3627	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79500	-0.1778	10	0.87932	D	0	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	560	Q9UQ52	CNTN6_HUMAN	R	560;488;560	ENSP00000407822:G560R;ENSP00000442791:G488R;ENSP00000341882:G560R	ENSP00000341882:G560R	G	+	1	0	CNTN6	1389531	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.513000	0.81739	2.736000	0.93811	0.655000	0.94253	GGG	CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134115		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0.00	105	0	G	NM_014461		1414531	+1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	31.91	64	30	SNP	1.000	C
COL20A1	57642	genome.wustl.edu	37	20	61960763	61960764	+	Intron	DEL	TG	TG	-	rs5842416|rs544239880|rs573799946	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:61960763_61960764delTG	ENST00000358894.6	+	35	3881				COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000326996.6_Intron|COL20A1_ENST00000435874.1_Intron|COL20A1_ENST00000422202.1_Intron	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGGAGGCGCCTGTGTGGAGCAC	0.653														2911	0.58127	0.5303	0.5432	5008	,	,		15654	0.5675		0.6441	False		,,,				2504	0.6268																0																																										SO:0001627	intron_variant	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3782-173TG>-	20.37:g.61960767_61960768delTG			Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	RNA	DEL	-	NULL	ENST00000358894.6	37	NULL	CCDS46628.1	20																																																																																			COL20A1	-	-	ENSG00000101203		0.653	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2		0.00	10	0	TG	NM_020882		61960764	+1	tier1		no_errors	ENST00000496810	ensembl	human	putative	74_37	rna	36.36	7	4	DEL	0.000:0.000	-
COMP	1311	genome.wustl.edu	37	19	18899065	18899065	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:18899065C>T	ENST00000222271.2	-	9	975	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	COMP_ENST00000425807.1_Missense_Mutation_p.A258T|COMP_ENST00000542601.2_Missense_Mutation_p.A278T	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	311			A -> D (in EDM1). {ECO:0000269|PubMed:21922596}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGATCGCAGGCGTCTCCGATG	0.637																																																	0													45.0	47.0	46.0					19																	18899065		2203	4300	6503	SO:0001583	missense	0			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.931G>A	19.37:g.18899065C>T	ENSP00000222271:p.Ala311Thr		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A311T	ENST00000222271.2	37	c.931	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696762	0.88830	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.99023	-5.34;-5.34;-5.34	3.68	3.68	0.42216	.	0.000000	0.64402	U	0.000001	D	0.97554	0.9199	M	0.83774	2.66	0.58432	D	0.999994	P;P	0.50066	0.749;0.931	B;B	0.37943	0.16;0.261	D	0.96359	0.9264	10	0.66056	D	0.02	-36.7101	6.9101	0.24331	0.0:0.8724:0.0:0.1276	.	258;311	B4DKJ3;P49747	.;COMP_HUMAN	T	278;311;258;298	ENSP00000439156:A278T;ENSP00000222271:A311T;ENSP00000403792:A258T	ENSP00000222271:A311T	A	-	1	0	COMP	18760065	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.793000	0.55484	1.909000	0.55274	0.484000	0.47621	GCC	COMP	-	pfam_Thrombospondin_3-like_rpt	ENSG00000105664		0.637	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	-	0.00	45	0	C	NM_000095		18899065	-1	tier1	-	no_errors	ENST00000222271	ensembl	human	known	74_37	missense	61.76	25	42	SNP	1.000	T
CRTAP	10491	genome.wustl.edu	37	3	33175722	33175722	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:33175722G>T	ENST00000320954.6	+	6	1216	c.1117G>T	c.(1117-1119)Gac>Tac	p.D373Y	CRTAP_ENST00000449224.1_Missense_Mutation_p.D330Y	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	373					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GGAGCTGTATGACTTTGCTAA	0.388																																																	0													164.0	149.0	154.0					3																	33175722		2203	4300	6503	SO:0001583	missense	0			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1117G>T	3.37:g.33175722G>T	ENSP00000323696:p.Asp373Tyr		B2RBL6	Missense_Mutation	SNP	NULL	p.D373Y	ENST00000320954.6	37	c.1117	CCDS2657.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246619	0.80024	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.59083	0.44;0.29	4.96	4.96	0.65561	.	0.221317	0.45606	D	0.000341	T	0.53706	0.1813	N	0.14661	0.345	0.58432	D	0.999999	D;D	0.54964	0.969;0.969	P;P	0.54100	0.742;0.742	T	0.51996	-0.8634	10	0.24483	T	0.36	-9.7205	18.5767	0.91157	0.0:0.0:1.0:0.0	.	330;373	C9JP16;O75718	.;CRTAP_HUMAN	Y	373;360;330	ENSP00000323696:D373Y;ENSP00000409997:D330Y	ENSP00000323696:D373Y	D	+	1	0	CRTAP	33150726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.069000	0.76755	2.469000	0.83416	0.462000	0.41574	GAC	CRTAP	-	NULL	ENSG00000170275		0.388	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	HGNC	protein_coding	OTTHUMT00000253246.3	-	0.00	81	0	G			33175722	+1	tier1	-	no_errors	ENST00000320954	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	3224680	3224680	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:3224680C>A	ENST00000520002.1	-	21	3547	c.2992G>T	c.(2992-2994)Gcc>Tcc	p.A998S	CSMD1_ENST00000537824.1_Missense_Mutation_p.A997S|CSMD1_ENST00000539096.1_Missense_Mutation_p.A997S|CSMD1_ENST00000400186.3_Missense_Mutation_p.A998S|CSMD1_ENST00000602557.1_Missense_Mutation_p.A998S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A997S|CSMD1_ENST00000602723.1_Missense_Mutation_p.A998S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	998	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGAGCCTGGCAACGGGCTCG	0.468																																																	0													63.0	63.0	63.0					8																	3224680		1860	4114	5974	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2992G>T	8.37:g.3224680C>A	ENSP00000430733:p.Ala998Ser		Q0H0J5|Q96QU9|Q96RM4	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.A998S	ENST00000520002.1	37	c.2992		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.54|16.54	3.152848|3.152848	0.57259|0.57259	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.18810|.	2.19;2.19;2.19;2.19;2.19|.	5.22|5.22	5.22|5.22	0.72569|0.72569	CUB (5);|.	0.070978|.	0.56097|.	D|.	0.000038|.	T|T	0.71239|0.71239	0.3316|0.3316	L|L	0.55481|0.55481	1.735|1.735	0.54753|0.54753	D|D	0.999986|0.999986	D;P;D|.	0.76494|.	0.999;0.898;0.987|.	D;P;D|.	0.83275|.	0.996;0.719;0.961|.	T|T	0.68629|0.68629	-0.5358|-0.5358	10|5	0.10377|.	T|.	0.69|.	.|.	18.7813|18.7813	0.91933|0.91933	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	998;998;998|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|F	998;998;860;997;997;997|477	ENSP00000383047:A998S;ENSP00000430733:A998S;ENSP00000441462:A997S;ENSP00000446243:A997S;ENSP00000441675:A997S|.	ENSP00000320445:A860S|.	A|C	-|-	1|2	0|0	CSMD1|CSMD1	3212087|3212087	0.992000|0.992000	0.36948|0.36948	0.850000|0.850000	0.33497|0.33497	0.046000|0.046000	0.14306|0.14306	3.031000|3.031000	0.49728|0.49728	2.436000|2.436000	0.82500|0.82500	0.557000|0.557000	0.71058|0.71058	GCC|TGC	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	42	0	C	NM_033225		3224680	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	34.00	33	17	SNP	0.999	A
CYP4F8	11283	genome.wustl.edu	37	19	15730494	15730494	+	RNA	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:15730494G>A	ENST00000441682.2	+	0	510							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CACCACCGTCGCTTGTGACGC	0.512																																																	0													70.0	70.0	70.0					19																	15730494		2203	4300	6503			0			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730494G>A				RNA	SNP	-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	9.648	1.140717	0.21205	.	.	ENSG00000186526	ENST00000441682	.	.	.	2.98	2.98	0.34508	.	0.083137	0.49305	U	0.000160	T	0.64046	0.2563	.	.	.	.	.	.	.	.	.	.	.	.	T	0.75505	-0.3294	5	0.54805	T	0.06	.	11.7531	0.51859	0.0:0.0:1.0:0.0	.	.	.	.	H	149	.	ENSP00000409702:R149H	R	+	2	0	CYP4F8	15591494	0.983000	0.35010	0.271000	0.24616	0.032000	0.12392	2.989000	0.49393	1.684000	0.51022	0.313000	0.20887	CGC	CYP4F8	-	-	ENSG00000186526		0.512	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	HGNC	processed_transcript		-	0.00	156	0	G	NM_007253		15730494	+1	tier1	-	no_errors	ENST00000441682	ensembl	human	known	74_37	rna	48.78	102	100	SNP	0.955	A
DAG1	1605	genome.wustl.edu	37	3	49570287	49570287	+	Silent	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:49570287C>A	ENST00000539901.1	+	3	2901	c.2343C>A	c.(2341-2343)ggC>ggA	p.G781G	DAG1_ENST00000515359.2_Silent_p.G781G|DAG1_ENST00000541308.1_Silent_p.G781G|DAG1_ENST00000545947.1_Silent_p.G781G|DAG1_ENST00000538711.1_Silent_p.G781G|DAG1_ENST00000308775.2_Silent_p.G781G	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	781					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGCGGAAGGGCAAGCTTACCC	0.572																																																	0													64.0	51.0	55.0					3																	49570287		2203	4300	6503	SO:0001819	synonymous_variant	0			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2343C>A	3.37:g.49570287C>A			A8K6M7|Q969J9	Silent	SNP	pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg	p.G781	ENST00000539901.1	37	c.2343	CCDS2799.1	3																																																																																			DAG1	-	pfam_DAG1	ENSG00000173402		0.572	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	-	0.00	27	0	C			49570287	+1	tier1	-	no_errors	ENST00000308775	ensembl	human	known	74_37	silent	40.00	15	10	SNP	1.000	A
DHRS7B	25979	genome.wustl.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del	DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507																																																	0																																										SO:0001651	inframe_deletion	0			BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.843_845delGAA	17.37:g.21094340_21094342delGAA	ENSP00000378887:p.Lys285del		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	In_Frame_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.K285in_frame_del	ENST00000395511.3	37	c.843_845	CCDS11215.1	17																																																																																			DHRS7B	-	NULL	ENSG00000109016		0.507	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHRS7B	HGNC	protein_coding	OTTHUMT00000444066.3		0.00	66	0	GAA	NM_015510		21094333	+1	tier1		no_errors	ENST00000395511	ensembl	human	known	74_37	in_frame_del	27.91	62	24	DEL	0.926:0.978:0.996	-
DLC1	10395	genome.wustl.edu	37	8	13357530	13357530	+	Nonsense_Mutation	SNP	C	C	T	rs201093868		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:13357530C>T	ENST00000276297.4	-	2	460	c.51G>A	c.(49-51)tgG>tgA	p.W17*	DLC1_ENST00000316609.5_Nonsense_Mutation_p.W17*|DLC1_ENST00000511869.1_Nonsense_Mutation_p.W17*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	17					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGTCCCATCCAGTGGGTCA	0.418																																																	0													146.0	140.0	142.0					8																	13357530		2203	4300	6503	SO:0001587	stop_gained	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.51G>A	8.37:g.13357530C>T	ENSP00000276297:p.Trp17*		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Nonsense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.W17*	ENST00000276297.4	37	c.51	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.960267	0.97964	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	.	.	.	5.53	4.6	0.57074	.	0.520434	0.14946	N	0.289206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5068	0.75748	0.1389:0.8611:0.0:0.0	.	.	.	.	X	17	.	ENSP00000276297:W17X	W	-	3	0	DLC1	13401901	1.000000	0.71417	0.804000	0.32291	0.945000	0.59286	3.994000	0.56994	2.777000	0.95525	0.655000	0.94253	TGG	DLC1	-	NULL	ENSG00000164741		0.418	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0.00	37	0	C	NM_182643, NM_006094		13357530	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	nonsense	27.54	50	19	SNP	0.988	T
DOK3	79930	genome.wustl.edu	37	5	176935396	176935396	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:176935396T>G	ENST00000357198.4	-	3	386	c.382A>C	c.(382-384)Atc>Ctc	p.I128L	DOK3_ENST00000501403.2_Missense_Mutation_p.I72L|DOK3_ENST00000312943.6_Missense_Mutation_p.I72L|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	128	PH.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCCAGGCGGATGACCCGTCGC	0.716																																																	0													18.0	21.0	20.0					5																	176935396		2197	4294	6491	SO:0001583	missense	0			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.382A>C	5.37:g.176935396T>G	ENSP00000349727:p.Ile128Leu		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.I128L	ENST00000357198.4	37	c.382	CCDS4426.1	5	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443481	0.83993	.	.	ENSG00000146094	ENST00000312943;ENST00000357198;ENST00000501403;ENST00000510380;ENST00000506493;ENST00000502885;ENST00000510898	T;T;T;T	0.60424	0.19;1.32;0.64;0.3	4.7	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.64402	D	0.000006	T	0.68586	0.3017	L	0.49778	1.585	0.33294	D	0.563958	D;P	0.64830	0.994;0.919	D;P	0.76071	0.987;0.717	T	0.76868	-0.2800	10	0.52906	T	0.07	-28.4318	11.6985	0.51556	0.0:0.0:0.0:1.0	.	128;72	Q7L591;Q7L591-3	DOK3_HUMAN;.	L	72;128;72;72;72;72;72	ENSP00000325174:I72L;ENSP00000349727:I128L;ENSP00000421688:I72L;ENSP00000422395:I72L	ENSP00000325174:I72L	I	-	1	0	DOK3	176868002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.386000	0.44380	1.760000	0.52011	0.402000	0.26972	ATC	DOK3	-	smart_Pleckstrin_homology	ENSG00000146094		0.716	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	-	0.00	23	0	T	NM_024872		176935396	-1	tier1	-	no_errors	ENST00000357198	ensembl	human	known	74_37	missense	37.50	9	6	SNP	1.000	G
DYNC2H1	79659	genome.wustl.edu	37	11	102988516	102988516	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:102988516G>A	ENST00000375735.2	+	6	1067	c.923G>A	c.(922-924)cGc>cAc	p.R308H	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R308H|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R308H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	308	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTGTGGCAGCGCTATGTTCCT	0.373																																																	0													103.0	99.0	100.0					11																	102988516		1897	4136	6033	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.923G>A	11.37:g.102988516G>A	ENSP00000364887:p.Arg308His		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R308H	ENST00000375735.2	37	c.923	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256767	0.39896	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.57907	0.37;0.37;0.37	5.26	4.36	0.52297	Dynein heavy chain, domain-1 (1);	4.550770	0.01613	N	0.022630	T	0.74230	0.3689	M	0.63428	1.95	0.42105	D	0.991355	D;B;P	0.89917	1.0;0.012;0.485	D;B;B	0.74023	0.982;0.01;0.371	T	0.50363	-0.8837	10	0.49607	T	0.09	.	14.1547	0.65410	0.0723:0.0:0.9277:0.0	.	308;308;308	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	H	308	ENSP00000364887:R308H;ENSP00000334021:R308H;ENSP00000381167:R308H	ENSP00000334021:R308H	R	+	2	0	DYNC2H1	102493726	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.993000	0.40747	1.213000	0.43380	-0.133000	0.14855	CGC	DYNC2H1	-	pfam_Dynein_heavy_dom-1	ENSG00000187240		0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	89	0	G	XM_370652		102988516	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	34.13	83	43	SNP	1.000	A
EFEMP1	2202	genome.wustl.edu	37	2	56103786	56103786	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:56103786C>G	ENST00000394555.2	-	7	1287	c.852G>C	c.(850-852)gaG>gaC	p.E284D	EFEMP1_ENST00000355426.3_Missense_Mutation_p.E284D|EFEMP1_ENST00000394554.1_Missense_Mutation_p.E284D|EFEMP1_ENST00000424836.2_Intron	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	284	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACTGCTTAGCTCATATCCTT	0.383																																					GBM(92;934 1319 7714 28760 40110)												0													113.0	99.0	104.0					2																	56103786		2203	4300	6503	SO:0001583	missense	0			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.852G>C	2.37:g.56103786C>G	ENSP00000378058:p.Glu284Asp		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.E284D	ENST00000394555.2	37	c.852	CCDS1857.1	2	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595913	0.46318	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000355426	D;D;D	0.94828	-3.53;-3.53;-3.53	5.73	0.771	0.18504	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000005	D	0.95127	0.8421	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92421	0.5945	10	0.48119	T	0.1	.	12.138	0.53982	0.0:0.6206:0.0:0.3794	.	284	Q12805	FBLN3_HUMAN	D	284;284;140;284	ENSP00000378058:E284D;ENSP00000378057:E284D;ENSP00000347596:E284D	ENSP00000347596:E284D	E	-	3	2	EFEMP1	55957290	0.995000	0.38212	0.888000	0.34837	0.948000	0.59901	0.509000	0.22707	-0.397000	0.07691	-0.813000	0.03139	GAG	EFEMP1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000115380		0.383	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	-	0.00	69	0	C			56103786	-1	tier1	-	no_errors	ENST00000355426	ensembl	human	known	74_37	missense	25.96	77	27	SNP	0.996	G
EIF1	10209	genome.wustl.edu	37	17	39845176	39845176	+	5'UTR	DEL	C	C	-	rs545567134	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:39845176delC	ENST00000469257.1	+	0	32				EIF1_ENST00000310837.4_3'UTR|JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_5'UTR			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCAGCAGCCTCCCCCTTGAGC	0.697																																					Pancreas(176;1692 2837 16734 17588)												0																																										SO:0001623	5_prime_UTR_variant	0			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.-115C>-	17.37:g.39845176delC			Q9UNQ9	RNA	DEL	-	NULL	ENST00000469257.1	37	NULL	CCDS11403.1	17																																																																																			EIF1	-	-	ENSG00000173812		0.697	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1	HGNC	protein_coding	OTTHUMT00000257390.1		0.00	26	0	C	NM_005801		39845176	+1	tier1		no_errors	ENST00000310837	ensembl	human	known	74_37	rna	20.00	36	9	DEL	1.000	-
EIF4G3	8672	genome.wustl.edu	37	1	21219891	21219893	+	Intron	DEL	TCT	TCT	-	rs558158883	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:21219891_21219893delTCT	ENST00000264211.8	-	12	2280				EIF4G3_ENST00000537738.1_Intron|EIF4G3_ENST00000536266.1_Intron|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000602326.1_Intron|EIF4G3_ENST00000374937.3_Intron|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000400422.1_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGTCTTTGCCTCTTCTTCTTCTT	0.379														21	0.00419329	0.0106	0.0014	5008	,	,		19673	0.001		0.0	False		,,,				2504	0.0051																0																																										SO:0001627	intron_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2085+116AGA>-	1.37:g.21219900_21219902delTCT			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	RNA	DEL	-	NULL	ENST00000264211.8	37	NULL	CCDS214.1	1																																																																																			EIF4G3	-	-	ENSG00000075151		0.379	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0.00	19	0	TCT	NM_003760		21219893	-1	tier1		no_errors	ENST00000374933	ensembl	human	known	74_37	rna	12.50	14	2	DEL	0.781:0.836:0.918	-
ELAVL1	1994	genome.wustl.edu	37	19	8028463	8028464	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:8028463_8028464delAT	ENST00000407627.2	-	6	1013_1014	c.884_885delAT	c.(883-885)tatfs	p.Y295fs	ELAVL1_ENST00000351593.5_Frame_Shift_Del_p.Y322fs|ELAVL1_ENST00000596459.1_Frame_Shift_Del_p.Y295fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	295	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGGCTTCTTCATAGTTTGTCAT	0.5																																																	0																																										SO:0001589	frameshift_variant	0			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.884_885delAT	19.37:g.8028463_8028464delAT	ENSP00000385269:p.Tyr295fs		B4DVB8|Q53XN6|Q9BTT1	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.Y322fs	ENST00000407627.2	37	c.966_965	CCDS12193.1	19																																																																																			ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000066044		0.500	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3		0.00	49	0	AT	NM_001419		8028464	-1	tier1		no_errors	ENST00000351593	ensembl	human	known	74_37	frame_shift_del	29.23	46	19	DEL	1.000:1.000	-
ZNF606	80095	genome.wustl.edu	37	19	58514315	58514315	+	5'UTR	DEL	T	T	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:58514315delT	ENST00000341164.4	-	0	402				ZNF606_ENST00000547121.1_5'Flank|ZNF606_ENST00000547828.1_5'Flank|ZNF606_ENST00000552579.1_5'Flank|CTD-2368P22.1_ENST00000550135.1_Frame_Shift_Del_p.P279fs|ZNF606_ENST00000546715.1_5'Flank|ZNF606_ENST00000536132.1_5'Flank	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GGTTGGGACCTTTCTGGCACC	0.701																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.-219A>-	19.37:g.58514315delT			A8KAN2|Q8NE04|Q96JH5	Frame_Shift_Del	DEL	NULL	p.F19fs	ENST00000341164.4	37	c.54	CCDS12968.1	19																																																																																			CTD-2368P22.1	-	NULL	ENSG00000176593		0.701	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000176593	Clone_based_vega_gene	protein_coding	OTTHUMT00000405961.1		0.00	21	0	T	NM_025027		58514315	+1	tier1		no_errors	ENST00000313957	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.000	-
AL390966.1	0	genome.wustl.edu	37	X	94389311	94389311	+	RNA	SNP	T	T	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:94389311T>A	ENST00000390809.1	+	0	34																											caaatataactgtggcttttc	0.358																																																	0																																												0																															X.37:g.94389311T>A				RNA	SNP	-	NULL	ENST00000390809.1	37	NULL		X																																																																																			AL390966.1	-	-	ENSG00000212098		0.358	AL390966.1-201	NOVEL	basic	miRNA	ENSG00000212098	Clone_based_ensembl_gene	miRNA		-	0.00	32	0	T			94389311	+1	tier1	-	no_errors	ENST00000390809	ensembl	human	novel	74_37	rna	86.15	9	56	SNP	0.003	A
SCRIB	23513	genome.wustl.edu	37	8	144871591	144871591	+	IGR	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:144871591C>T	ENST00000320476.3	-	0	5143				RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein						activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGGCCTGCCCGTACGCCCAC	0.642																																					Pancreas(51;966 1133 10533 14576 29674)												0																																										SO:0001628	intergenic_variant	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154		8.37:g.144871591C>T			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	RNA	SNP	-	NULL	ENST00000320476.3	37	NULL	CCDS6411.1	8																																																																																			RP11-429J17.8	-	-	ENSG00000214733		0.642	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000214733	Clone_based_vega_gene	protein_coding	OTTHUMT00000382215.1	-	0.00	23	0	C	NM_015356		144871591	+1	tier1	-	no_errors	ENST00000534089	ensembl	human	known	74_37	rna	23.53	26	8	SNP	0.000	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150523469	150523469	+	Intron	DEL	T	T	-	rs78880005		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:150523469delT	ENST00000271643.4	+	2	152				AL356356.1_ENST00000538795.1_Frame_Shift_Del_p.I133fs|ADAMTSL4_ENST00000369041.5_Intron|ADAMTSL4_ENST00000369039.5_Intron|ADAMTSL4_ENST00000369038.2_5'Flank|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000483335.1_3'UTR|RP11-54A4.2_ENST00000442435.2_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4						apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGAAACAGATTTTTTTTTTC	0.527																																																	0																																										SO:0001627	intron_variant	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000271643.4:c.-85+1098T>-	1.37:g.150523469delT			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	NULL	p.F136fs	ENST00000271643.4	37	c.398	CCDS955.1	1																																																																																			AL356356.1	-	NULL	ENSG00000225996		0.527	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225996	Clone_based_ensembl_gene	protein_coding			0.00	10	0	T	NM_019032		150523469	+1	tier1		no_errors	ENST00000538795	ensembl	human	known	74_37	frame_shift_del	36.36	7	4	DEL	0.004	-
NCK2	8440	genome.wustl.edu	37	2	106471762	106471763	+	Intron	INS	-	-	GA	rs368999483		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:106471762_106471763insGA	ENST00000233154.4	+	3	668				AC009505.2_ENST00000427050.2_RNA|AC009505.2_ENST00000596418.1_RNA|NCK2_ENST00000393349.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|AC009505.2_ENST00000598281.1_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2						actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GTTTCACCCTCGAGAGAGGAAG	0.45																																																	0																																										SO:0001627	intron_variant	0			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.226+17->GA	2.37:g.106471767_106471768dupGA			D3DVK1|Q9BWN9|Q9UIC3	RNA	INS	-	NULL	ENST00000233154.4	37	NULL	CCDS33266.1	2																																																																																			AC009505.2	-	-	ENSG00000235522		0.450	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000235522	Clone_based_vega_gene	protein_coding	OTTHUMT00000329634.1		0.00	47	0	-	NM_003581		106471763	-1	tier1		no_errors	ENST00000598281	ensembl	human	known	74_37	rna	20.00	48	12	INS	0.000:0.000	GA
FAM27B	100133121	genome.wustl.edu	37	9	67793766	67793766	+	Intron	DEL	A	A	-	rs372691371		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:67793766delA	ENST00000377484.3	-	1	215				RP11-12A20.7_ENST00000315762.5_RNA			Q5VT28	FAM27_HUMAN	family with sequence similarity 27, member B																		acacaccaccaggcaacccct	0.587																																																	0																																										SO:0001627	intron_variant	0					9q13	2014-05-06			ENSG00000170215	ENSG00000278763			23667	other	unknown							Standard	NR_027422		Approved	bA12A20.3, FAM27A2	uc004aet.4	Q5VT28	OTTHUMG00000188586	ENST00000377484.3:c.78+130T>-	9.37:g.67793766delA				RNA	DEL	-	NULL	ENST00000377484.3	37	NULL		9																																																																																			RP11-12A20.7	-	-	ENSG00000236233		0.587	FAM27B-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000236233	Clone_based_vega_gene	protein_coding	OTTHUMT00000037106.1		0.00	11	0	A	NR_027422		67793766	+1	tier1		no_errors	ENST00000315762	ensembl	human	known	74_37	rna	83.33	1	5	DEL	0.015	-
KRIT1	889	genome.wustl.edu	37	7	91829671	91829672	+	3'UTR	INS	-	-	T	rs34910226|rs397742852	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:91829671_91829672insT	ENST00000340022.2	-	0	3607_3608				Y_RNA_ENST00000363899.1_RNA|KRIT1_ENST00000412043.2_Intron|KRIT1_ENST00000394507.1_3'UTR|KRIT1_ENST00000394505.2_Intron|AC000120.7_ENST00000414227.1_RNA	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing						angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTGAAAGTAAttttttttttt	0.376													|||unknown(HR)	1533	0.30611	0.3003	0.3372	5008	,	,		19590	0.1964		0.3748	False		,,,				2504	0.3344																0																																										SO:0001624	3_prime_UTR_variant	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.*379->A	7.37:g.91829682_91829682dupT			A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	RNA	INS	-	NULL	ENST00000340022.2	37	NULL	CCDS5624.1	7																																																																																			AC000120.7	-	-	ENSG00000243107		0.376	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000243107	Clone_based_vega_gene	protein_coding	OTTHUMT00000253910.1		0.00	18	0	-			91829672	-1	tier1		no_errors	ENST00000414227	ensembl	human	known	74_37	rna	18.18	18	4	INS	0.024:0.076	T
RP11-146E13.4	0	genome.wustl.edu	37	14	19856162	19856162	+	lincRNA	SNP	G	G	A	rs376770988		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:19856162G>A	ENST00000548109.1	+	0	72																											GCGGCCAGACGACCTCAGGGA	0.672																																																	0																																												0																															14.37:g.19856162G>A				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.672	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	-	0.00	9	0	G			19856162	-1	tier1	-	no_errors	ENST00000551334	ensembl	human	known	74_37	rna	50.00	3	3	SNP	0.596	A
MCPH1	79648	genome.wustl.edu	37	8	6478732	6478733	+	Intron	INS	-	-	T	rs532366531	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:6478732_6478733insT	ENST00000344683.5	+	13	2290				CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1						cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGGCCTACACTTTTTTTTTTC	0.361																																					Colon(95;1448 1467 8277 34473 35819)												0																																										SO:0001627	intron_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.2215-242->T	8.37:g.6478742_6478742dupT			B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	RNA	INS	-	NULL	ENST00000344683.5	37	NULL	CCDS43689.1	8																																																																																			CTD-2541M15.1	-	-	ENSG00000249898		0.361	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249898	Clone_based_vega_gene	protein_coding	OTTHUMT00000374532.2		0.00	10	0	-	NM_024596		6478733	-1	tier1		no_errors	ENST00000515608	ensembl	human	known	74_37	rna	28.57	5	2	INS	0.000:0.002	T
CTD-2311B13.7	0	genome.wustl.edu	37	14	19969313	19969313	+	lincRNA	SNP	T	T	A	rs201001641		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:19969313T>A	ENST00000547399.1	-	0	2979																											GTCTTCACCATTGTGTAGTTT	0.274																																																	0																																												0																															14.37:g.19969313T>A				RNA	SNP	-	NULL	ENST00000547399.1	37	NULL		14																																																																																			CTD-2311B13.7	-	-	ENSG00000257931		0.274	CTD-2311B13.7-001	KNOWN	basic	lincRNA	ENSG00000257931	Clone_based_vega_gene	lincRNA	OTTHUMT00000409457.1		0.00	40	0	T			19969313	-1			no_errors	ENST00000547399	ensembl	human	known	74_37	rna	9.09	50	5	SNP	0.005	A
MGAT2	4247	genome.wustl.edu	37	14	50089335	50089336	+	3'UTR	DEL	CA	CA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:50089335_50089336delCA	ENST00000305386.2	+	0	1847_1848				RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase						cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CAGTGAAAATCACAGTTACAAA	0.361																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.*6CA>-	14.37:g.50089337_50089338delCA			B3KPC5|B3KQM0	RNA	DEL	-	NULL	ENST00000305386.2	37	NULL	CCDS9690.1	14																																																																																			RP11-649E7.5	-	-	ENSG00000258377		0.361	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258377	Clone_based_vega_gene	protein_coding	OTTHUMT00000276807.1		0.00	44	0	CA	NM_002408		50089336	-1	tier1		no_errors	ENST00000555043	ensembl	human	known	74_37	rna	35.80	52	29	DEL	0.122:0.115	-
ASIC2	40	genome.wustl.edu	37	17	31439098	31439099	+	Intron	DEL	AG	AG	-	rs140895516		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:31439098_31439099delAG	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_Intron|ASIC2_ENST00000225823.2_Intron|RP11-40A13.1_ENST00000584688.1_RNA	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GAAGGAGAGAAGAGAGAGAGAG	0.53																																																	0																																										SO:0001627	intron_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-13CT>-	17.37:g.31439108_31439109delAG			E9PBX2|Q13553|Q6DJU1|Q8N3E2	RNA	DEL	-	NULL	ENST00000359872.6	37	NULL	CCDS42296.1	17																																																																																			RP11-40A13.1	-	-	ENSG00000266535		0.530	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266535	Clone_based_vega_gene	protein_coding	OTTHUMT00000447552.1		0.00	23	0	AG	NM_183377, NM_001094		31439099	+1	tier1		no_errors	ENST00000584688	ensembl	human	known	74_37	rna	9.52	38	4	DEL	0.563:0.970	-
EPHA10	284656	genome.wustl.edu	37	1	38227500	38227500	+	Missense_Mutation	SNP	G	G	T	rs45567442	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:38227500G>T	ENST00000373048.4	-	3	426	c.427C>A	c.(427-429)Cgc>Agc	p.R143S	EPHA10_ENST00000427468.2_Missense_Mutation_p.R143S|EPHA10_ENST00000319637.6_Missense_Mutation_p.R143S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	143	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCCTAGGCGGGGACGCCCA	0.657																																																	0													35.0	41.0	39.0					1																	38227500		2203	4299	6502	SO:0001583	missense	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.427C>A	1.37:g.38227500G>T	ENSP00000362139:p.Arg143Ser		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R143S	ENST00000373048.4	37	c.427	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309691	0.23821	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03413	3.94;3.94;3.94	4.75	2.66	0.31614	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.179045	0.27437	N	0.019363	T	0.01254	0.0041	N	0.01188	-0.97	0.80722	D	1	B;B	0.33299	0.407;0.006	B;B	0.33339	0.162;0.012	T	0.57636	-0.7777	10	0.10377	T	0.69	.	7.7623	0.28959	0.0:0.3334:0.4949:0.1717	.	143;143	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	S	143	ENSP00000397746:R143S;ENSP00000362139:R143S;ENSP00000316395:R143S	ENSP00000316395:R143S	R	-	1	0	EPHA10	38000087	0.003000	0.15002	0.285000	0.24819	0.966000	0.64601	1.207000	0.32333	1.284000	0.44531	0.643000	0.83706	CGC	EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000183317		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	-	0.00	39	0	G	NM_173641		38227500	-1	tier1	-	no_errors	ENST00000427468	ensembl	human	known	74_37	missense	39.39	20	13	SNP	0.947	T
EPHB6	2051	genome.wustl.edu	37	7	142561730	142561730	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:142561730G>A	ENST00000392957.2	+	7	959	c.172G>A	c.(172-174)Gag>Aag	p.E58K	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.E58K	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	58	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.E43*(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCAGTGGGACGAGGTGAGTGT	0.592																																																	1	Substitution - Nonsense(1)	lung(1)											119.0	128.0	125.0					7																	142561730		2202	4297	6499	SO:0001583	missense	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.172G>A	7.37:g.142561730G>A	ENSP00000376684:p.Glu58Lys		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E58K	ENST00000392957.2	37	c.172	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	35	5.493992	0.96339	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.12039	2.72;2.72	5.45	5.45	0.79879	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.45867	D	0.000331	T	0.45577	0.1349	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52124	-0.8617	10	0.87932	D	0	.	18.275	0.90080	0.0:0.0:1.0:0.0	.	58	O15197	EPHB6_HUMAN	K	58	ENSP00000376684:E58K;ENSP00000410789:E58K	ENSP00000376684:E58K	E	+	1	0	EPHB6	142271852	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	7.937000	0.87672	2.548000	0.85928	0.650000	0.86243	GAG	EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000106123		0.592	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	-	0.00	40	0	G			142561730	+1	tier1	-	no_errors	ENST00000392957	ensembl	human	known	74_37	missense	12.66	69	10	SNP	1.000	A
EPX	8288	genome.wustl.edu	37	17	56271184	56271186	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CAA	CAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:56271184_56271186delCAA	ENST00000225371.5	+	4	566_568	c.456_458delCAA	c.(454-459)tgcaac>tgc	p.N154del		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	154					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CTGGACGGTGCAACAACAAGTGC	0.68																																																	0										6,4258		3,0,2129						4.1	1.0			32	5,8247		2,1,4123	no	coding	EPX	NM_000502.4		5,1,6252	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12505				SO:0001651	inframe_deletion	0			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.456_458delCAA	17.37:g.56271190_56271192delCAA	ENSP00000225371:p.Asn154del		Q4TVP3	In_Frame_Del	DEL	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.N154in_frame_del	ENST00000225371.5	37	c.456_458	CCDS11602.1	17																																																																																			EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000121053		0.680	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1		0.00	43	0	CAA	NM_000502		56271186	+1	tier1		no_errors	ENST00000225371	ensembl	human	known	74_37	in_frame_del	41.38	34	24	DEL	1.000:1.000:1.000	-
ESPL1	9700	genome.wustl.edu	37	12	53663026	53663027	+	Frame_Shift_Del	DEL	TC	TC	-	rs267603537		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:53663026_53663027delTC	ENST00000257934.4	+	3	391_392	c.300_301delTC	c.(298-303)attctcfs	p.L101fs	ESPL1_ENST00000552462.1_Frame_Shift_Del_p.L101fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	101					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGAACGAATTCTCTTTGTCTT	0.604																																					Colon(53;1069 1201 2587 5382)												0																																										SO:0001589	frameshift_variant	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.300_301delTC	12.37:g.53663028_53663029delTC	ENSP00000257934:p.Leu101fs			Frame_Shift_Del	DEL	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.F102fs	ENST00000257934.4	37	c.300_301	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.604	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2		0.00	39	0	TC	NM_012291		53663027	+1	tier1		no_errors	ENST00000257934	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	0.999:1.000	-
EVPL	2125	genome.wustl.edu	37	17	74006238	74006238	+	Silent	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:74006238G>T	ENST00000301607.3	-	22	3301	c.3048C>A	c.(3046-3048)acC>acA	p.T1016T	EVPL_ENST00000586740.1_Silent_p.T1038T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1016	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGACCTCCTTGGTCAGCAGAT	0.657																																																	0													62.0	68.0	66.0					17																	74006238		2203	4299	6502	SO:0001819	synonymous_variant	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3048C>A	17.37:g.74006238G>T			A0AUV5	Silent	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.T1016	ENST00000301607.3	37	c.3048	CCDS11737.1	17																																																																																			EVPL	-	NULL	ENSG00000167880		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	-	0.00	29	0	G	NM_001988		74006238	-1	tier1	-	no_errors	ENST00000301607	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T
EXOSC8	11340	genome.wustl.edu	37	13	37576435	37576437	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr13:37576435_37576437delAGG	ENST00000389704.3	+	2	308_310	c.43_45delAGG	c.(43-45)aggdel	p.R16del	ALG5_ENST00000496689.1_5'Flank|ALG5_ENST00000413537.2_5'Flank|ALG5_ENST00000443765.1_5'Flank|EXOSC8_ENST00000489088.1_3'UTR|ALG5_ENST00000239891.3_5'Flank	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	16					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)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		GGAGTATTACAGGAGATTTCTGG	0.32																																																	0																																										SO:0001651	inframe_deletion	0			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.43_45delAGG	13.37:g.37576435_37576437delAGG	ENSP00000374354:p.Arg16del		O43480|Q5TBA5	In_Frame_Del	DEL	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.R16in_frame_del	ENST00000389704.3	37	c.43_45	CCDS31958.1	13																																																																																			EXOSC8	-	NULL	ENSG00000120699		0.320	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC8	HGNC	protein_coding	OTTHUMT00000044535.2		0.00	24	0	AGG	NM_181503		37576437	+1	tier1		no_errors	ENST00000389704	ensembl	human	known	74_37	in_frame_del	23.68	29	9	DEL	1.000:1.000:1.000	-
FAM105A	54491	genome.wustl.edu	37	5	14610461	14610461	+	3'UTR	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:14610461G>A	ENST00000274217.3	+	0	1229				FAM105A_ENST00000506258.2_3'UTR	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A											large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CACCAGTGACGGTGGTCACAG	0.512																																																	0													28.0	28.0	28.0					5																	14610461		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.*38G>A	5.37:g.14610461G>A			Q53H50|Q9H037	RNA	SNP	-	NULL	ENST00000274217.3	37	NULL	CCDS3884.1	5																																																																																			FAM105A	-	-	ENSG00000145569		0.512	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1	-	0.00	24	0	G	NM_019018		14610461	+1	tier1	-	no_errors	ENST00000506258	ensembl	human	putative	74_37	rna	43.18	24	19	SNP	0.001	A
FAM107A	11170	genome.wustl.edu	37	3	58574945	58574945	+	Silent	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:58574945G>T	ENST00000474531.1	-	2	691	c.76C>A	c.(76-78)Cga>Aga	p.R26R	FAM107A_ENST00000447756.2_5'Flank			O95990	F107A_HUMAN	family with sequence similarity 107, member A	0					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GAGCCATTTCGTCTCTGCTTC	0.468																																																	0																																										SO:0001819	synonymous_variant	0			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000474531.1:c.76C>A	3.37:g.58574945G>T			B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Silent	SNP	pfam_DUF1151	p.R26	ENST00000474531.1	37	c.76		3																																																																																			FAM107A	-	NULL	ENSG00000168309		0.468	FAM107A-001	PUTATIVE	basic	protein_coding	FAM107A	HGNC	protein_coding	OTTHUMT00000353582.1	-	0.00	63	0	G	NM_007177		58574945	-1	tier1	-	no_errors	ENST00000474531	ensembl	human	putative	74_37	silent	5.19	73	4	SNP	0.006	T
FAM114A2	10827	genome.wustl.edu	37	5	153374608	153374609	+	Intron	DEL	AC	AC	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:153374608_153374609delAC	ENST00000351797.4	-	13	1406				FAM114A2_ENST00000520667.1_Intron|FAM114A2_ENST00000522858.1_Intron|FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520313.1_Intron	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2								purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						ACACTTTAAAACACACACACAC	0.337																																																	0										271,117,3868		6,1,258,0,116,1747						-3.1	0.0		dbSNP_130	74	22,299,7925		0,0,22,0,299,3802	no	intron	FAM114A2	NM_018691.2		6,1,280,0,415,5549	A1A1,A1A2,A1R,A2A2,A2R,RR		3.8928,9.1165,5.6711				293,416,11793				SO:0001627	intron_variant	0			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1330-76GT>-	5.37:g.153374618_153374619delAC			B2R8D8|Q9H7E0	RNA	DEL	-	NULL	ENST00000351797.4	37	NULL	CCDS4323.1	5																																																																																			FAM114A2	-	-	ENSG00000055147		0.337	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1		0.00	34	0	AC	NM_018691		153374609	-1	tier1		no_errors	ENST00000518946	ensembl	human	known	74_37	rna	12.50	21	3	DEL	0.019:0.007	-
FAM19A3	284467	genome.wustl.edu	37	1	113264887	113264887	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:113264887C>G	ENST00000361886.3	+	2	91	c.32C>G	c.(31-33)aCg>aGg	p.T11R	FAM19A3_ENST00000369630.3_Missense_Mutation_p.T11R	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	11						extracellular region (GO:0005576)		p.T11M(1)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGGAGCACGGGCGGCTGG	0.642																																																	1	Substitution - Missense(1)	lung(1)											90.0	88.0	89.0					1																	113264887		2203	4300	6503	SO:0001583	missense	0			AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.32C>G	1.37:g.113264887C>G	ENSP00000355042:p.Thr11Arg		B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.T11R	ENST00000361886.3	37	c.32	CCDS856.1	1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677239	0.29783	.	.	ENSG00000184599	ENST00000369630;ENST00000361886	.	.	.	5.83	2.84	0.33178	.	0.817608	0.10311	N	0.689992	T	0.10465	0.0256	N	0.25647	0.755	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.38564	-0.9655	9	0.15066	T	0.55	2.0201	8.3662	0.32389	0.0:0.6259:0.2935:0.0806	.	11;11	Q7Z5A8;Q7Z5A8-2	F19A3_HUMAN;.	R	11	.	ENSP00000355042:T11R	T	+	2	0	FAM19A3	113066410	0.000000	0.05858	0.003000	0.11579	0.886000	0.51366	-0.139000	0.10358	0.327000	0.23409	0.561000	0.74099	ACG	FAM19A3	-	NULL	ENSG00000184599		0.642	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A3	HGNC	protein_coding	OTTHUMT00000033255.1		0.00	25	0	C	NM_182759		113264887	+1			no_errors	ENST00000369630	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.030	G
FAM47C	442444	genome.wustl.edu	37	X	37027774	37027774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:37027774delC	ENST00000358047.3	+	1	1343	c.1291delC	c.(1291-1293)cccfs	p.P431fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	431										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTGGAGCCTCCCAAGACTCG	0.607																																																	0													61.0	60.0	60.0					X																	37027774		2202	4300	6502	SO:0001589	frameshift_variant	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1291delC	X.37:g.37027774delC	ENSP00000367913:p.Pro431fs		Q6ZU46	Frame_Shift_Del	DEL	NULL	p.K432fs	ENST00000358047.3	37	c.1291	CCDS35227.1	X																																																																																			FAM47C	-	NULL	ENSG00000198173		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1		0.00	116	0	C	NM_001013736		37027774	+1	tier1		no_errors	ENST00000358047	ensembl	human	known	74_37	frame_shift_del	67.23	39	80	DEL	0.435	-
FAM78A	286336	genome.wustl.edu	37	9	134151290	134151290	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:134151290C>T	ENST00000372271.3	-	1	644	c.277G>A	c.(277-279)Gcg>Acg	p.A93T		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	93										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGCTGCACGCCTGGATCCAG	0.637																																																	0													58.0	50.0	53.0					9																	134151290		2203	4300	6503	SO:0001583	missense	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.277G>A	9.37:g.134151290C>T	ENSP00000361345:p.Ala93Thr		Q86VQ9|Q9H7P4	Missense_Mutation	SNP	NULL	p.A93T	ENST00000372271.3	37	c.277	CCDS6941.2	9	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734119	0.89482	.	.	ENSG00000126882	ENST00000372271	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79276	-0.1870	9	0.87932	D	0	-35.4935	17.6901	0.88267	0.0:1.0:0.0:0.0	.	93	Q5JUQ0	FA78A_HUMAN	T	93	.	ENSP00000361345:A93T	A	-	1	0	FAM78A	133141111	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.437000	0.80417	2.492000	0.84095	0.655000	0.94253	GCG	FAM78A	-	NULL	ENSG00000126882		0.637	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1		0.00	37	0	C	NM_033387		134151290	-1			no_errors	ENST00000372271	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T
FAM83B	222584	genome.wustl.edu	37	6	54791310	54791310	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:54791310G>A	ENST00000306858.7	+	3	702	c.586G>A	c.(586-588)Ggt>Agt	p.G196S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	196										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGAGAAACAAGGTTGTTCAGT	0.343																																																	0																																										SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.586G>A	6.37:g.54791310G>A	ENSP00000304078:p.Gly196Ser		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.G196S	ENST00000306858.7	37	c.586	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649015	0.67358	.	.	ENSG00000168143	ENST00000306858	T	0.11169	2.8	5.35	2.6	0.31112	.	0.301266	0.35903	N	0.002904	T	0.03608	0.0103	L	0.52364	1.645	0.41738	D	0.98959	B	0.25441	0.126	B	0.26614	0.071	T	0.32052	-0.9921	10	0.24483	T	0.36	-7.0849	8.008	0.30336	0.1386:0.0:0.7312:0.1302	.	196	Q5T0W9	FA83B_HUMAN	S	196	ENSP00000304078:G196S	ENSP00000304078:G196S	G	+	1	0	FAM83B	54899269	1.000000	0.71417	0.926000	0.36857	0.846000	0.48090	5.450000	0.66626	0.248000	0.21435	-0.251000	0.11542	GGT	FAM83B	-	pfam_DUF1669	ENSG00000168143		0.343	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	-	0.00	60	0	G	XM_294139		54791310	+1	tier1	-	no_errors	ENST00000306858	ensembl	human	known	74_37	missense	26.92	38	14	SNP	0.956	A
FANCM	57697	genome.wustl.edu	37	14	45623219	45623219	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:45623219T>C	ENST00000267430.5	+	6	1232	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	FANCM_ENST00000556036.1_Missense_Mutation_p.Y383H|FANCM_ENST00000542564.2_Missense_Mutation_p.Y357H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	383					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAGATCATTATATTTCTTCCT	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													124.0	126.0	125.0					14																	45623219		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1147T>C	14.37:g.45623219T>C	ENSP00000267430:p.Tyr383His		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y383H	ENST00000267430.5	37	c.1147	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590878	0.46214	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.14893	2.54;2.54;2.47	4.88	3.71	0.42584	.	0.238237	0.44097	D	0.000486	T	0.24392	0.0591	M	0.83483	2.645	0.31259	N	0.693153	P;P;B	0.46859	0.885;0.58;0.371	B;B;B	0.41466	0.358;0.251;0.141	T	0.36311	-0.9753	10	0.48119	T	0.1	.	10.9084	0.47094	0.1409:0.0:0.0:0.8591	.	357;383;383	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	H	383;383;357	ENSP00000450596:Y383H;ENSP00000267430:Y383H;ENSP00000442493:Y357H	ENSP00000267430:Y383H	Y	+	1	0	FANCM	44692969	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.968000	0.76086	0.793000	0.33875	0.383000	0.25322	TAT	FANCM	-	superfamily_P-loop_NTPase	ENSG00000187790		0.289	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0.00	53	0	T	XM_048128		45623219	+1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	43.66	40	31	SNP	1.000	C
FAP	2191	genome.wustl.edu	37	2	163074549	163074549	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:163074549A>G	ENST00000188790.4	-	9	916	c.709T>C	c.(709-711)Tcc>Ccc	p.S237P	FAP_ENST00000443424.1_Missense_Mutation_p.S212P	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCATAATAGGAATAGGCAATA	0.353																																																	0													114.0	116.0	115.0					2																	163074549		2203	4300	6503	SO:0001583	missense	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.709T>C	2.37:g.163074549A>G	ENSP00000188790:p.Ser237Pro			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S237P	ENST00000188790.4	37	c.709	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118687	0.56505	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.95821	-3.82;1.59	5.74	5.74	0.90152	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.052422	0.85682	D	0.000000	D	0.93135	0.7814	N	0.25332	0.735	0.58432	D	0.999997	B;D;P	0.57899	0.015;0.981;0.95	B;P;P	0.53809	0.048;0.735;0.735	D	0.90677	0.4602	10	0.02654	T	1	-20.8578	16.3426	0.83092	1.0:0.0:0.0:0.0	.	212;237;237	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	P	237;212	ENSP00000188790:S237P;ENSP00000411391:S212P	ENSP00000188790:S237P	S	-	1	0	FAP	162782795	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.352000	0.66028	2.317000	0.78254	0.460000	0.39030	TCC	FAP	-	pfam_Peptidase_S9B	ENSG00000078098		0.353	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	-	0.00	31	0	A			163074549	-1	tier1	-	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	46.27	36	31	SNP	1.000	G
FCHO2	115548	genome.wustl.edu	37	5	72354318	72354320	+	In_Frame_Del	DEL	TCT	TCT	-	rs201343261		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:72354318_72354320delTCT	ENST00000430046.2	+	17	1428_1430	c.1312_1314delTCT	c.(1312-1314)tctdel	p.S442del	FCHO2_ENST00000512348.1_In_Frame_Del_p.S409del|FCHO2_ENST00000341845.6_In_Frame_Del_p.S442del	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	442	Ser-rich.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCTTGATTCATCTTCTTCATCTT	0.281																																																	0																																										SO:0001651	inframe_deletion	0			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1312_1314delTCT	5.37:g.72354321_72354323delTCT	ENSP00000393776:p.Ser442del		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	In_Frame_Del	DEL	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.S441in_frame_del	ENST00000430046.2	37	c.1312_1314	CCDS47230.1	5																																																																																			FCHO2	-	NULL	ENSG00000157107		0.281	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3		0.00	122	0	TCT	XM_291142		72354320	+1	tier1		no_errors	ENST00000341845	ensembl	human	known	74_37	in_frame_del	33.69	124	63	DEL	0.930:0.927:0.004	-
FCRL3	115352	genome.wustl.edu	37	1	157648846	157648846	+	Intron	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:157648846A>G	ENST00000368184.3	-	14	2318				FCRL3_ENST00000368186.5_Intron|FCRL3_ENST00000473231.1_Intron	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGCATTCCAAACCAATCTTCT	0.398																																																	0													188.0	169.0	174.0					1																	157648846		692	1591	2283	SO:0001627	intron_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2027-83T>C	1.37:g.157648846A>G			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	RNA	SNP	-	NULL	ENST00000368184.3	37	NULL	CCDS1167.1	1																																																																																			FCRL3	-	-	ENSG00000160856		0.398	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0.00	13	0	A	NM_052939		157648846	-1	tier1	-	no_errors	ENST00000468507	ensembl	human	known	74_37	rna	33.33	12	6	SNP	0.000	G
FEM1B	10116	genome.wustl.edu	37	15	68582270	68582270	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:68582270C>T	ENST00000306917.4	+	2	1189	c.574C>T	c.(574-576)Cac>Tac	p.H192Y		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	192					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CACAGCATTGCACTTTGCAGC	0.458																																																	0													71.0	62.0	65.0					15																	68582270		2200	4298	6498	SO:0001583	missense	0				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.574C>T	15.37:g.68582270C>T	ENSP00000307298:p.His192Tyr		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H192Y	ENST00000306917.4	37	c.574	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891509	0.72524	.	.	ENSG00000169018	ENST00000306917	T	0.79247	-1.25	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	M	0.84948	2.725	0.80722	D	1	D	0.63880	0.993	P	0.59761	0.863	D	0.88936	0.3376	10	0.56958	D	0.05	-11.7405	18.9741	0.92728	0.0:1.0:0.0:0.0	.	192	Q9UK73	FEM1B_HUMAN	Y	192	ENSP00000307298:H192Y	ENSP00000307298:H192Y	H	+	1	0	FEM1B	66369324	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.788000	0.85771	2.717000	0.92951	0.555000	0.69702	CAC	FEM1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000169018		0.458	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	-	0.00	21	0	C			68582270	+1	tier1	-	no_errors	ENST00000306917	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	T
FEZ1	9638	genome.wustl.edu	37	11	125315975	125315975	+	3'UTR	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:125315975G>A	ENST00000278919.3	-	0	1429				FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CAGCGAGGCTGCTCCAAAGGG	0.547																																					Melanoma(180;509 2033 10762 15939 24711)												0													174.0	144.0	154.0					11																	125315975		2201	4299	6500	SO:0001624	3_prime_UTR_variant	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.*16C>T	11.37:g.125315975G>A			O00679|O00728|Q6IBI7	RNA	SNP	-	NULL	ENST00000278919.3	37	NULL	CCDS31716.1	11																																																																																			FEZ1	-	-	ENSG00000149557		0.547	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	-	0.00	29	0	G	NM_005103		125315975	-1	tier1	-	no_errors	ENST00000526507	ensembl	human	known	74_37	rna	10.53	34	4	SNP	1.000	A
FLVCR1	28982	genome.wustl.edu	37	1	213037120	213037120	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:213037120G>T	ENST00000366971.4	+	2	990	c.792G>T	c.(790-792)caG>caT	p.Q264H		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	264					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CCAACACACAGAATGACACAA	0.368																																					Esophageal Squamous(199;2235 2952 19233 26256)												0													161.0	148.0	153.0					1																	213037120		2203	4300	6503	SO:0001583	missense	0			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.792G>T	1.37:g.213037120G>T	ENSP00000355938:p.Gln264His		Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q264H	ENST00000366971.4	37	c.792	CCDS1510.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.341|9.341	1.063138|1.063138	0.19987|0.19987	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	T|.	0.57595|.	0.39|.	5.17|5.17	4.26|4.26	0.50523|0.50523	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	1.293790|.	0.04998|.	N|.	0.468517|.	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.01874|0.01874	-0.695|-0.695	0.22378|0.22378	N|N	0.999156|0.999156	P|.	0.49253|.	0.921|.	P|.	0.52109|.	0.69|.	T|T	0.22277|0.22277	-1.0221|-1.0221	10|5	0.36615|.	T|.	0.2|.	-23.1239|-23.1239	5.6852|5.6852	0.17799|0.17799	0.0772:0.1366:0.6453:0.1409|0.0772:0.1366:0.6453:0.1409	.|.	264|.	Q9Y5Y0|.	FLVC1_HUMAN|.	H|I	264|110	ENSP00000355938:Q264H|.	ENSP00000355938:Q264H|.	Q|R	+|+	3|2	2|0	FLVCR1|FLVCR1	211103743|211103743	0.255000|0.255000	0.24002|0.24002	0.976000|0.976000	0.42696|0.42696	0.821000|0.821000	0.46438|0.46438	0.419000|0.419000	0.21247|0.21247	1.316000|1.316000	0.45131|0.45131	0.557000|0.557000	0.71058|0.71058	CAG|AGA	FLVCR1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000162769		0.368	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1	HGNC	protein_coding	OTTHUMT00000089678.2	-	0.00	58	0	G	NM_014053		213037120	+1	tier1	-	no_errors	ENST00000366971	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.362	T
FOXC1	2296	genome.wustl.edu	37	6	1610969	1610971	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:1610969_1610971delAAG	ENST00000380874.2	+	1	289_291	c.289_291delAAG	c.(289-291)aagdel	p.K98del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	98					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGCCCCGGACAAGAAGATCACCC	0.601																																					Pancreas(133;719 1821 3197 26645 35015)												0																																										SO:0001651	inframe_deletion	0			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.289_291delAAG	6.37:g.1610972_1610974delAAG	ENSP00000370256:p.Lys98del		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K98in_frame_del	ENST00000380874.2	37	c.289_291	CCDS4473.1	6																																																																																			FOXC1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000054598		0.601	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1		0.00	131	0	AAG			1610971	+1	tier1		no_errors	ENST00000380874	ensembl	human	known	74_37	in_frame_del	52.56	37	41	DEL	1.000:1.000:1.000	-
FOXP2	93986	genome.wustl.edu	37	7	114329835	114329835	+	Splice_Site	SNP	A	A	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:114329835A>T	ENST00000393494.2	+	17	2282		c.e17-1		FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393498.2_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATGTTTTTCAGACATTCAAT	0.403																																																	0													83.0	71.0	75.0					7																	114329835		2203	4300	6503	SO:0001630	splice_region_variant	0			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.2004-1A>T	7.37:g.114329835A>T			A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	SNP	-	e17-2	ENST00000393494.2	37	c.2079-2	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399564	0.62177	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXP2	114117071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.284000	0.76573	0.528000	0.53228	.	FOXP2	-	-	ENSG00000128573		0.403	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1	-	0.00	41	0	A	NM_014491	Intron	114329835	+1	tier1	-	no_errors	ENST00000408937	ensembl	human	known	74_37	splice_site	29.09	39	16	SNP	1.000	T
G3BP1	10146	genome.wustl.edu	37	5	151183521	151183521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:151183521C>T	ENST00000394123.3	+	12	1415	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	G3BP1_ENST00000356245.3_Nonsense_Mutation_p.R424*|G3BP1_ENST00000543466.1_Nonsense_Mutation_p.R242*			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	424					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGGCGACCGACGAGATAATCG	0.582																																																	0													84.0	87.0	86.0					5																	151183521		2203	4300	6503	SO:0001587	stop_gained	0			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1270C>T	5.37:g.151183521C>T	ENSP00000377681:p.Arg424*		Q5HYE9	Nonsense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.R424*	ENST00000394123.3	37	c.1270	CCDS4319.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.356241	0.95854	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	.	.	.	5.36	2.49	0.30216	.	0.059601	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6416	9.0548	0.36399	0.449:0.4796:0.0:0.0714	.	.	.	.	X	424;242;424;266	.	ENSP00000274596:R266X	R	+	1	2	G3BP1	151163714	0.998000	0.40836	0.228000	0.23943	0.994000	0.84299	2.934000	0.48956	0.281000	0.22233	0.655000	0.94253	CGA	G3BP1	-	NULL	ENSG00000145907		0.582	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	HGNC	protein_coding	OTTHUMT00000252431.1	-	0.00	41	0	C	NM_005754		151183521	+1	tier1	-	no_errors	ENST00000356245	ensembl	human	known	74_37	nonsense	35.56	29	16	SNP	0.881	T
GALNT18	374378	genome.wustl.edu	37	11	11348709	11348709	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:11348709G>T	ENST00000227756.4	-	9	1847	c.1436C>A	c.(1435-1437)aCt>aAt	p.T479N		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	479	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ACACAAATCAGTCTTCAGAGA	0.463																																																	0													107.0	96.0	99.0					11																	11348709		2201	4294	6495	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1436C>A	11.37:g.11348709G>T	ENSP00000227756:p.Thr479Asn		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T479N	ENST00000227756.4	37	c.1436	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864902	0.32977	.	.	ENSG00000110328	ENST00000227756	T	0.27557	1.66	5.62	3.69	0.42338	Ricin B-related lectin (1);Ricin B lectin (3);	0.178212	0.44483	D	0.000451	T	0.21062	0.0507	N	0.25485	0.75	0.29191	N	0.875884	B	0.02656	0.0	B	0.06405	0.002	T	0.12041	-1.0563	10	0.48119	T	0.1	.	10.4477	0.44503	0.0:0.3145:0.565:0.1205	.	479	Q6P9A2	GLTL4_HUMAN	N	479	ENSP00000227756:T479N	ENSP00000227756:T479N	T	-	2	0	GALNTL4	11305285	0.950000	0.32346	0.998000	0.56505	0.993000	0.82548	0.905000	0.28504	1.362000	0.46000	0.563000	0.77884	ACT	GALNT18	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000110328		0.463	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1		0.00	69	0	G	NM_198516		11348709	-1			no_errors	ENST00000227756	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.941	T
GAS6	2621	genome.wustl.edu	37	13	114535732	114535732	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs540269924		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr13:114535732C>T	ENST00000418959.3	-	0	982				GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Intron|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000357389.3_Silent_p.P319P|GAS6_ENST00000450766.1_Intron	NM_001143946.1	NP_001137418.1	Q14393	GAS6_HUMAN	growth arrest-specific 6						activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TGTCCTGCCACGGACGGGGGC	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		14758	0.001		0.0	False		,,,				2504	0.0																0													107.0	69.0	82.0					13																	114535732		2197	4289	6486			0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000418959.3:c.-70G>A	13.37:g.114535732C>T			B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.P319	ENST00000418959.3	37	c.957	CCDS45074.1	13																																																																																			GAS6	-	superfamily_ConA-like_lec_gl_sf	ENSG00000183087		0.692	GAS6-203	KNOWN	basic|CCDS	protein_coding	GAS6	HGNC	protein_coding		-	0.00	53	0	C	NM_000820		114535732	-1	tier1	-	no_errors	ENST00000357389	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.015	T
GATA1	2623	genome.wustl.edu	37	X	48652620	48652620	+	3'UTR	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:48652620G>T	ENST00000376670.3	+	0	1402				GATA1_ENST00000376665.3_Missense_Mutation_p.C317F	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)						basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TTCTCCTCTTGTAGCCAGAAT	0.557			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													11.0	12.0	12.0					X																	48652620		2092	4016	6108	SO:0001624	3_prime_UTR_variant	0			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.*49G>T	X.37:g.48652620G>T			Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	p.C317F	ENST00000376670.3	37	c.950	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	g	1.544	-0.541022	0.04053	.	.	ENSG00000102145	ENST00000376665;ENST00000447551	D	0.96716	-4.1	2.79	-2.9	0.05648	.	.	.	.	.	D	0.93664	0.7976	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.87759	0.2597	6	0.87932	D	0	.	4.1415	0.10196	0.3521:0.3906:0.2572:0.0	.	.	.	.	F	317;122	ENSP00000365853:C317F	ENSP00000365853:C317F	C	+	2	0	GATA1	48537564	0.001000	0.12720	0.007000	0.13788	0.097000	0.18754	-0.077000	0.11394	-0.896000	0.03915	0.351000	0.21866	TGT	GATA1	-	NULL	ENSG00000102145		0.557	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	-	0.00	42	0	G	NM_002049		48652620	+1	tier1	-	no_errors	ENST00000376665	ensembl	human	novel	74_37	missense	6.78	55	4	SNP	0.006	T
GGCX	2677	genome.wustl.edu	37	2	85785767	85785767	+	Intron	SNP	C	C	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:85785767C>G	ENST00000233838.4	-	4	454				VAMP8_ENST00000432071.1_5'Flank|GGCX_ENST00000430215.3_Intron	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GTCAAGAGATCACCACAGGCC	0.428																																																	0													46.0	43.0	44.0					2																	85785767		2203	4300	6503	SO:0001627	intron_variant	0				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.374-39G>C	2.37:g.85785767C>G			B4DMC5|E9PEE1|Q14415|Q6GU45	Nonstop_Mutation	SNP	pfam_VKG_COase	p.*74S	ENST00000233838.4	37	c.221	CCDS1978.1	2																																																																																			GGCX	-	NULL	ENSG00000115486		0.428	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	-	0.00	61	0	C	NM_000821		85785767	-1	tier1	-	no_errors	ENST00000428479	ensembl	human	known	74_37	nonstop	17.20	77	16	SNP	0.985	G
GGT2	728441	genome.wustl.edu	37	22	21570257	21570257	+	Silent	SNP	G	G	A	rs200714390	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:21570257G>A	ENST00000401924.1	-	8	1181	c.690C>T	c.(688-690)aaC>aaT	p.N230N	GGT2_ENST00000424627.1_Silent_p.N230N|GGT2_ENST00000405188.4_Silent_p.N230N			P36268	GGT2_HUMAN	gamma-glutamyltransferase 2	230					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	anchored component of external side of plasma membrane (GO:0031362)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)										TGAGGCTGCCGTTGTAGAAGG	0.607																																																	0																																										SO:0001819	synonymous_variant	0			M30474		22q11.21	2012-04-19			ENSG00000133475	ENSG00000133475	2.3.2.2	"""Gamma-glutamyltransferases"""	4251	protein-coding gene	gene with protein product		137181		GGT		8104871, 18357469	Standard	XM_006724392		Approved		uc011aic.1	P36268	OTTHUMG00000150617	ENST00000401924.1:c.690C>T	22.37:g.21570257G>A				Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.N230	ENST00000401924.1	37	c.690		22																																																																																			GGT2	-	pfam_GGT_peptidase	ENSG00000133475		0.607	GGT2-002	KNOWN	non_canonical_other|not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	GGT2	HGNC	protein_coding	OTTHUMT00000320092.2	-	0.00	24	0	G	XM_001129377		21570257	-1	tier1	rs200714390	no_errors	ENST00000401924	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.883	A
GPBP1L1	60313	genome.wustl.edu	37	1	46093254	46093256	+	3'UTR	DEL	AAT	AAT	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AAT	AAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:46093254_46093256delAAT	ENST00000290795.3	-	0	3318_3320				GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_3'UTR			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1						positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TAAATCTGTAAATAATGTTATCA	0.296																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.*674ATT>-	1.37:g.46093257_46093259delAAT			D3DQ10|Q9H751	RNA	DEL	-	NULL	ENST00000290795.3	37	NULL	CCDS528.1	1																																																																																			GPBP1L1	-	-	ENSG00000159592		0.296	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	HGNC	protein_coding	OTTHUMT00000098375.1		0.00	133	0	AAT	NM_021639		46093256	-1	tier1		no_errors	ENST00000479235	ensembl	human	known	74_37	rna	25.90	123	43	DEL	1.000:1.000:1.000	-
GJA8	2703	genome.wustl.edu	37	1	147381177	147381177	+	Silent	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:147381177C>A	ENST00000369235.1	+	1	1095	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	GJA8_ENST00000240986.4_Silent_p.A365A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	365					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.A365A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGAAGGTGGCCGTGCCAGAGG	0.627																																					Melanoma(76;1255 1795 8195 52096)												1	Substitution - coding silent(1)	pancreas(1)											46.0	47.0	46.0					1																	147381177		2200	4294	6494	SO:0001819	synonymous_variant	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1095C>A	1.37:g.147381177C>A			A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.A365	ENST00000369235.1	37	c.1095	CCDS30834.1	1																																																																																			GJA8	-	NULL	ENSG00000121634		0.627	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1		0.00	36	0	C	NM_005267		147381177	+1			no_errors	ENST00000240986	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.000	A
GPX3	2878	genome.wustl.edu	37	5	150400197	150400197	+	5'UTR	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:150400197A>G	ENST00000388825.4	+	0	74				GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_5'UTR	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)						hydrogen peroxide catabolic process (GO:0042744)|protein homotetramerization (GO:0051289)|response to lipid hydroperoxide (GO:0006982)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|selenium binding (GO:0008430)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	GGCGACCCTGAGTGTGCCCCC	0.692																																																	0													10.0	15.0	13.0					5																	150400197		1930	4106	6036	SO:0001623	5_prime_UTR_variant	0				CCDS43389.1	5q23	2012-03-01			ENSG00000211445	ENSG00000211445	1.11.1.9		4555	protein-coding gene	gene with protein product		138321				3619451, 8287691	Standard	NM_002084		Approved		uc021yga.1	P22352	OTTHUMG00000163693	ENST00000388825.4:c.-19A>G	5.37:g.150400197A>G			O43787|Q86W78|Q9NZ74|Q9UEL1	RNA	SNP	-	NULL	ENST00000388825.4	37	NULL	CCDS43389.1	5																																																																																			GPX3	-	-	ENSG00000211445		0.692	GPX3-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	GPX3	HGNC	protein_coding	OTTHUMT00000374772.1	-	0.00	39	0	A			150400197	+1	tier1	-	no_errors	ENST00000521722	ensembl	human	known	74_37	rna	33.33	28	14	SNP	0.001	G
GRM3	2913	genome.wustl.edu	37	7	86415818	86415818	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:86415818G>A	ENST00000361669.2	+	3	1809	c.710G>A	c.(709-711)cGc>cAc	p.R237H	GRM3_ENST00000394720.2_Missense_Mutation_p.R235H|GRM3_ENST00000536043.1_Missense_Mutation_p.R109H|GRM3_ENST00000439827.1_Missense_Mutation_p.R237H|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	237					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R237P(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCCCGCCTGCGCAACATCTGC	0.607																																					GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	lung(1)											52.0	51.0	51.0					7																	86415818		2203	4300	6503	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.710G>A	7.37:g.86415818G>A	ENSP00000355316:p.Arg237His		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R237H	ENST00000361669.2	37	c.710	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699764	0.68501	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82825	0.5121	L	0.56199	1.76	0.80722	D	1	B;P;P	0.51537	0.401;0.946;0.455	B;B;B	0.40825	0.146;0.341;0.228	T	0.81848	-0.0744	10	0.29301	T	0.29	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	109;237;237	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	237;109;109;237;235	ENSP00000355316:R237H;ENSP00000405427:R109H;ENSP00000441407:R109H;ENSP00000398767:R237H;ENSP00000378209:R235H	ENSP00000355316:R237H	R	+	2	0	GRM3	86253754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	CGC	GRM3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000198822		0.607	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2		0.00	36	0	G			86415818	+1			no_errors	ENST00000361669	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A
GRM7	2917	genome.wustl.edu	37	3	6903375	6903375	+	Silent	SNP	G	G	T	rs555598605	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:6903375G>T	ENST00000357716.4	+	1	574	c.300G>T	c.(298-300)acG>acT	p.T100T	GRM7_ENST00000389336.4_Silent_p.T100T|GRM7_ENST00000402647.2_Silent_p.T100T|GRM7_ENST00000486284.1_Silent_p.T100T|GRM7_ENST00000403881.1_Silent_p.T100T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	100					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CCAACGTGACGCTGGGCGCGC	0.597													G|||	5	0.000998403	0.0	0.0	5008	,	,		16604	0.0		0.0	False		,,,				2504	0.0051																0													48.0	41.0	43.0					3																	6903375		2203	4300	6503	SO:0001819	synonymous_variant	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.300G>T	3.37:g.6903375G>T			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.T100	ENST00000357716.4	37	c.300	CCDS43042.1	3																																																																																			GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000196277		0.597	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0.00	43	0	G	NM_000844		6903375	+1	tier1	-	no_errors	ENST00000402647	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G	rs202030378|rs372212945	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCCA	0.505													GGGGG|GGGG|GGGGG|deletion	3786	0.75599	0.7247	0.8242	5008	,	,		6539	0.7212		0.8101	False		,,,				2504	0.7301																0																																												0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664019dupG				RNA	INS	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1		0.00	11	0	-	NR_002164		72664016	-1	tier1		no_errors	ENST00000425256	ensembl	human	known	74_37	rna	22.22	14	4	INS	0.912:0.964	G
GTF3C2	2976	genome.wustl.edu	37	2	27564940	27564940	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:27564940G>A	ENST00000359541.2	-	4	1159	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000587586.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.R244W|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	244					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCATCCCGTGGAGCACCA	0.577																																																	0													84.0	74.0	77.0					2																	27564940		2203	4300	6503	SO:0001583	missense	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.730C>T	2.37:g.27564940G>A	ENSP00000352536:p.Arg244Trp		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R244W	ENST00000359541.2	37	c.730	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062804	0.36373	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.73681	-0.77;-0.77	5.24	4.33	0.51752	.	1.008970	0.07948	N	0.980405	T	0.73156	0.3551	L	0.27053	0.805	0.09310	N	1	D;P;D	0.69078	0.997;0.926;0.997	P;B;P	0.55667	0.781;0.306;0.681	T	0.60156	-0.7318	10	0.72032	D	0.01	0.0246	7.1899	0.25821	0.0913:0.1747:0.734:0.0	.	244;244;244	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	W	244	ENSP00000352536:R244W;ENSP00000264720:R244W	ENSP00000264720:R244W	R	-	1	2	GTF3C2	27418444	0.080000	0.21391	0.003000	0.11579	0.627000	0.37826	2.083000	0.41615	1.176000	0.42840	0.460000	0.39030	CGG	GTF3C2	-	NULL	ENSG00000115207		0.577	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	-	0.00	92	0	G			27564940	-1	tier1	-	no_errors	ENST00000264720	ensembl	human	known	74_37	missense	24.77	81	27	SNP	0.004	A
HIST1H1E	3008	genome.wustl.edu	37	6	26156678	26156680	+	In_Frame_Del	DEL	GAA	GAA	-	rs545095988	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:26156678_26156680delGAA	ENST00000304218.3	+	1	120_122	c.60_62delGAA	c.(58-63)gtgaag>gtg	p.K23del	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	23					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGACTCCCGTGAAGAAGAAGGCC	0.65														3	0.000599042	0.0	0.0043	5008	,	,		14947	0.0		0.0	False		,,,				2504	0.0																0										3,4135		0,3,2066						4.3	1.0			45	0,8162		0,0,4081	no	coding	HIST1H1E	NM_005321.2		0,3,6147	A1A1,A1R,RR		0.0,0.0725,0.0244				3,12297				SO:0001651	inframe_deletion	0			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.60_62delGAA	6.37:g.26156684_26156686delGAA	ENSP00000307705:p.Lys23del		Q4VB25	In_Frame_Del	DEL	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K23in_frame_del	ENST00000304218.3	37	c.60_62	CCDS4586.1	6																																																																																			HIST1H1E	-	prints_Histone_H5	ENSG00000168298		0.650	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1		0.00	56	0	GAA	NM_005321		26156680	+1	tier1		no_errors	ENST00000304218	ensembl	human	known	74_37	in_frame_del	42.50	23	17	DEL	0.932:0.994:0.999	-
HOOK1	51361	genome.wustl.edu	37	1	60336638	60336638	+	Intron	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:60336638A>G	ENST00000371208.3	+	21	2204				HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Intron	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TAATGAACATAGTGAAGAAAT	0.333																																																	0																																										SO:0001627	intron_variant	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1948-76A>G	1.37:g.60336638A>G			A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	RNA	SNP	-	NULL	ENST00000371208.3	37	NULL	CCDS612.1	1																																																																																			HOOK1	-	-	ENSG00000134709		0.333	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	-	0.00	23	0	A	NM_015888		60336638	+1	tier1	-	no_errors	ENST00000491135	ensembl	human	known	74_37	rna	25.64	29	10	SNP	0.000	G
HRCT1	646962	genome.wustl.edu	37	9	35906300	35906300	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:35906300G>A	ENST00000354323.2	+	1	112	c.16G>A	c.(16-18)Ggg>Agg	p.G6R		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	6						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						GGGCCTCCTGGGGAGCACAGC	0.657																																																	0													21.0	24.0	23.0					9																	35906300		2201	4300	6501	SO:0001583	missense	0				CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.16G>A	9.37:g.35906300G>A	ENSP00000346283:p.Gly6Arg		B7ZBJ1	Missense_Mutation	SNP	NULL	p.G6R	ENST00000354323.2	37	c.16	CCDS35012.1	9	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254330	0.59212	.	.	ENSG00000196196	ENST00000354323	.	.	.	3.6	2.67	0.31697	.	0.000000	0.35525	N	0.003158	T	0.45316	0.1336	L	0.27053	0.805	0.31365	N	0.680898	D	0.89917	1.0	D	0.68353	0.957	T	0.50432	-0.8829	9	0.87932	D	0	-7.8635	8.279	0.31889	0.0:0.0:0.7642:0.2358	.	6	Q6UXD1	HRCT1_HUMAN	R	6	.	ENSP00000346283:G6R	G	+	1	0	HRCT1	35896300	1.000000	0.71417	0.997000	0.53966	0.687000	0.40016	3.680000	0.54641	1.046000	0.40249	0.655000	0.94253	GGG	HRCT1	-	NULL	ENSG00000196196		0.657	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRCT1	HGNC	protein_coding	OTTHUMT00000334099.1	-	0.00	29	0	G	NM_001039792		35906300	+1	tier1	-	no_errors	ENST00000354323	ensembl	human	known	74_37	missense	50.00	20	20	SNP	0.998	A
HSD17B10	3028	genome.wustl.edu	37	X	53459303	53459303	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:53459303G>A	ENST00000168216.6	-	3	276	c.249C>T	c.(247-249)ggC>ggT	p.G83G	HSD17B10_ENST00000375304.5_Silent_p.G83G|HSD17B10_ENST00000375298.4_Silent_p.G83G|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	83					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						CATCCACACGGCCAAACTTTC	0.512																																																	0													127.0	97.0	107.0					X																	53459303		2203	4300	6503	SO:0001819	synonymous_variant	0			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.249C>T	X.37:g.53459303G>A			Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH	p.G83	ENST00000168216.6	37	c.249	CCDS14354.1	X																																																																																			HSD17B10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000072506		0.512	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B10	HGNC	protein_coding	OTTHUMT00000056750.1		0.00	39	0	G	NM_004493		53459303	-1			no_errors	ENST00000168216	ensembl	human	known	74_37	silent	5.00	57	3	SNP	1.000	A
HTRA3	94031	genome.wustl.edu	37	4	8272043	8272043	+	Silent	SNP	G	G	A	rs377722262	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:8272043G>A	ENST00000307358.2	+	1	552	c.348G>A	c.(346-348)acG>acA	p.T116T	HTRA3_ENST00000382512.3_Silent_p.T116T	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	116	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCTCCGGGACGCCCGTGCGCC	0.701													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		10140	0.0		0.0	False		,,,				2504	0.0																0								G		5,1907		0,5,951	2.0	2.0	2.0		348	1.6	0.9	4		2	0,4228		0,0,2114	no	coding-synonymous	HTRA3	NM_053044.3		0,5,3065	AA,AG,GG		0.0,0.2615,0.0814		116/454	8272043	5,6135	956	2114	3070	SO:0001819	synonymous_variant	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.348G>A	4.37:g.8272043G>A			Q7Z7A2	Silent	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.T116	ENST00000307358.2	37	c.348	CCDS3400.1	4																																																																																			HTRA3	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000170801		0.701	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	-	0.00	8	0	G	NM_053044		8272043	+1	tier1	-	no_errors	ENST00000307358	ensembl	human	known	74_37	silent	100.00	0	6	SNP	0.986	A
IGF1R	3480	genome.wustl.edu	37	15	99434834	99434834	+	Silent	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:99434834C>T	ENST00000268035.6	+	3	1532	c.921C>T	c.(919-921)tgC>tgT	p.C307C	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Silent_p.C307C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	307					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGCAGGAGTGCCCCTCGGGCT	0.652																																																	0													40.0	38.0	39.0					15																	99434834		2197	4297	6494	SO:0001819	synonymous_variant	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.921C>T	15.37:g.99434834C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.C307	ENST00000268035.6	37	c.921	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000140443		0.652	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2		0.00	55	0	C	NM_000875		99434834	+1			no_errors	ENST00000268035	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T
IGF2	3481	genome.wustl.edu	37	11	2161780	2161780	+	Intron	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:2161780G>T	ENST00000381389.1	-	1	160				IGF2_ENST00000300632.5_Intron|IGF2_ENST00000381406.4_5'Flank|IGF2-AS_ENST00000381361.3_RNA|IGF2_ENST00000416167.2_5'Flank|IGF2-AS_ENST00000445504.2_RNA|IGF2-AS_ENST00000381363.4_RNA|IGF2_ENST00000434045.2_Intron			P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACCGCCCGGCGGGAGCGCCTC	0.706																																																	0																																										SO:0001627	intron_variant	0			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000381389.1:c.5+306C>A	11.37:g.2161780G>T			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	RNA	SNP	-	NULL	ENST00000381389.1	37	NULL	CCDS7728.1	11																																																																																			IGF2-AS	-	-	ENSG00000099869		0.706	IGF2-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate|CCDS	protein_coding	IGF2-AS	HGNC	protein_coding	OTTHUMT00000026386.1	-	0.00	47	0	G	NM_000612		2161780	+1	tier1	-	no_errors	ENST00000381361	ensembl	human	known	74_37	rna	33.33	38	19	SNP	0.233	T
IMPA2	3613	genome.wustl.edu	37	18	12012291	12012292	+	Intron	DEL	TG	TG	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr18:12012291_12012292delTG	ENST00000269159.3	+	4	623				IMPA2_ENST00000589238.1_Intron|IMPA2_ENST00000588752.1_Intron|IMPA2_ENST00000588927.1_Intron	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2						inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CTTCAGCCTCTGTGCGCCTGGT	0.55																																																	0																																										SO:0001627	intron_variant	0			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.381+77TG>-	18.37:g.12012293_12012294delTG			B0YJ29|Q9UJT3	Frame_Shift_Del	DEL	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	p.C154fs	ENST00000269159.3	37	c.458_459	CCDS11855.1	18																																																																																			IMPA2	-	NULL	ENSG00000141401		0.550	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	HGNC	protein_coding	OTTHUMT00000254601.1		0.00	66	0	TG			12012292	+1	tier1		no_errors	ENST00000590107	ensembl	human	known	74_37	frame_shift_del	17.53	80	17	DEL	0.000:0.000	-
INPPL1	3636	genome.wustl.edu	37	11	71948432	71948433	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:71948432_71948433insC	ENST00000298229.2	+	26	3348_3349	c.3144_3145insC	c.(3145-3147)cccfs	p.P1049fs	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.P807fs|INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.P807fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1049	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGGCACACTGCCCCCTCCAGA	0.634																																																	0																																										SO:0001589	frameshift_variant	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3149dupC	11.37:g.71948437_71948437dupC	ENSP00000298229:p.Pro1049fs		B2RTX5|Q13577|Q13578	Frame_Shift_Ins	INS	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.P1050fs	ENST00000298229.2	37	c.3144_3145	CCDS8213.1	11																																																																																			INPPL1	-	NULL	ENSG00000165458		0.634	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1		0.00	87	0	-	NM_001567		71948433	+1	tier1		no_errors	ENST00000298229	ensembl	human	known	74_37	frame_shift_ins	39.51	49	32	INS	1.000:1.000	C
SLC27A3	11000	genome.wustl.edu	37	1	153745101	153745101	+	5'Flank	SNP	T	T	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:153745101T>C	ENST00000368661.3	+	0	0				INTS3_ENST00000318967.2_Intron|INTS3_ENST00000512605.1_Silent_p.P796P|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000456435.1_Silent_p.P796P|INTS3_ENST00000476843.1_Intron|INTS3_ENST00000435409.2_Intron	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGCTCTCCCTTTTCTTCCTC	0.532																																																	0													43.0	46.0	45.0					1																	153745101		2203	4300	6503	SO:0001631	upstream_gene_variant	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745101T>C	Exception_encountered		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	pfam_Int_cplx_su3	p.P796	ENST00000368661.3	37	c.2388	CCDS1053.1	1																																																																																			INTS3	-	NULL	ENSG00000143624		0.532	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding			0.00	66	0	T	NM_024330		153745101	+1			no_errors	ENST00000456435	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.000	C
ISX	91464	genome.wustl.edu	37	22	35480444	35480444	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:35480444G>A	ENST00000308700.6	+	3	1402	c.450G>A	c.(448-450)caG>caA	p.Q150Q	ISX_ENST00000404699.2_Silent_p.Q150Q	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	150					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q150H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GGGCTCCACAGCAGCTGAGTG	0.557																																																	1	Substitution - Missense(1)	endometrium(1)											59.0	52.0	54.0					22																	35480444		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.450G>A	22.37:g.35480444G>A			Q68DJ5	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q150	ENST00000308700.6	37	c.450	CCDS33640.1	22																																																																																			ISX	-	NULL	ENSG00000175329		0.557	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISX	HGNC	protein_coding	OTTHUMT00000320662.1		0.00	59	0	G	NM_001008494		35480444	+1			no_errors	ENST00000308700	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.019	A
ITGA2	3673	genome.wustl.edu	37	5	52358761	52358762	+	Splice_Site	INS	-	-	A	rs545988273|rs201610232	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:52358761_52358762insA	ENST00000296585.5	+	13	1745		c.e13+2			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATCAAAGAGGTAAAAAAAAAAA	0.307																																																	0																																										SO:0001630	splice_region_variant	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1602+2->A	5.37:g.52358772_52358772dupA			Q14595	Splice_Site	INS	-	e13+2	ENST00000296585.5	37	c.1602+2_1602+1	CCDS3957.1	5																																																																																			ITGA2	-	-	ENSG00000164171		0.307	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2		0.00	46	0	-	NM_002203	Intron	52358762	+1	tier1		no_errors	ENST00000296585	ensembl	human	known	74_37	splice_site_ins	11.32	47	6	INS	1.000:1.000	A
JAK2	3717	genome.wustl.edu	37	9	5126757	5126757	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:5126757G>A	ENST00000381652.3	+	25	3859	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	JAK2_ENST00000544510.1_Missense_Mutation_p.R973Q|JAK2_ENST00000539801.1_Missense_Mutation_p.R1122Q|JAK2_ENST00000487310.1_3'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1122	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.R1122P(2)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CTAGCTCTTCGAGTGGATCAA	0.353		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	2	Substitution - Missense(2)	lung(1)|breast(1)											72.0	68.0	70.0					9																	5126757		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3365G>A	9.37:g.5126757G>A	ENSP00000371067:p.Arg1122Gln		O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1122Q	ENST00000381652.3	37	c.3365	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127105	0.20959	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.78003	-1.02;-1.02;-1.14	5.27	4.38	0.52667	Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133960	0.52532	D	0.000072	T	0.59905	0.2228	L	0.43701	1.375	0.48975	D	0.999731	P	0.41643	0.758	B	0.23419	0.046	T	0.59369	-0.7467	10	0.11485	T	0.65	-4.0004	10.6528	0.45657	0.1481:0.0:0.8519:0.0	.	1122	O60674	JAK2_HUMAN	Q	1122;1122;973	ENSP00000440387:R1122Q;ENSP00000371067:R1122Q;ENSP00000443103:R973Q	ENSP00000371067:R1122Q	R	+	2	0	JAK2	5116757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.357000	0.59436	1.357000	0.45904	0.655000	0.94253	CGA	JAK2	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000096968		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	-	0.00	52	0	G			5126757	+1	tier1	-	no_errors	ENST00000381652	ensembl	human	known	74_37	missense	33.87	41	21	SNP	1.000	A
KANSL1	284058	genome.wustl.edu	37	17	44248371	44248371	+	Nonsense_Mutation	SNP	A	A	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:44248371A>T	ENST00000262419.6	-	2	1609	c.1139T>A	c.(1138-1140)tTg>tAg	p.L380*	KANSL1_ENST00000576248.1_5'UTR|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.L380*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.L380*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.L380*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.L380*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	380					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AAATCTCTCCAATTCTTCTGA	0.448																																																	0													90.0	115.0	107.0					17																	44248371		2203	4300	6503	SO:0001587	stop_gained	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1139T>A	17.37:g.44248371A>T	ENSP00000262419:p.Leu380*		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	NULL	p.L380*	ENST00000262419.6	37	c.1139	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	A	25.1	4.604177	0.87157	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.69	4.58	0.56647	.	0.073616	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2591	11.4797	0.50318	0.8132:0.1868:0.0:0.0	.	.	.	.	X	380	.	ENSP00000262419:L380X	L	-	2	0	KIAA1267	41604148	1.000000	0.71417	0.930000	0.37139	0.557000	0.35523	8.711000	0.91396	0.927000	0.37143	0.459000	0.35465	TTG	KANSL1	-	NULL	ENSG00000120071		0.448	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	-	0.00	64	0	A	NM_015443		44248371	-1	tier1	-	no_errors	ENST00000262419	ensembl	human	known	74_37	nonsense	62.34	29	48	SNP	1.000	T
KCND2	3751	genome.wustl.edu	37	7	120387853	120387853	+	Missense_Mutation	SNP	G	G	A	rs151258092		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:120387853G>A	ENST00000331113.4	+	6	2799	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	612					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGAAGGAGACGATAGGCCAGA	0.428																																																	0								G	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	82.0	72.0	75.0		1834	5.5	1.0	7	dbSNP_134	75	0,8600		0,0,4300	no	missense	KCND2	NM_012281.2	23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	612/631	120387853	2,13004	2203	4300	6503	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1834G>A	7.37:g.120387853G>A	ENSP00000333496:p.Asp612Asn		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.D612N	ENST00000331113.4	37	c.1834	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632010	0.46944	4.54E-4	0.0	ENSG00000184408	ENST00000331113	D	0.96774	-4.12	5.49	5.49	0.81192	.	0.063490	0.64402	D	0.000007	D	0.91932	0.7445	N	0.22421	0.69	0.35748	D	0.819202	B	0.31949	0.348	B	0.21917	0.037	D	0.91457	0.5186	9	.	.	.	.	19.7434	0.96241	0.0:0.0:1.0:0.0	.	612	Q9NZV8	KCND2_HUMAN	N	612	ENSP00000333496:D612N	.	D	+	1	0	KCND2	120175089	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	4.704000	0.61831	2.716000	0.92895	0.591000	0.81541	GAT	KCND2	-	NULL	ENSG00000184408		0.428	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	-	0.00	44	0	G	NM_012281		120387853	+1	tier1	rs151258092	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	18.33	49	11	SNP	0.995	A
KCNK5	8645	genome.wustl.edu	37	6	39163742	39163742	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:39163742G>T	ENST00000359534.3	-	2	546	c.208C>A	c.(208-210)Cag>Aag	p.Q70K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	70					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCACACCCTGTCCTGCAGCA	0.473																																																	0													129.0	112.0	118.0					6																	39163742		2203	4300	6503	SO:0001583	missense	0			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.208C>A	6.37:g.39163742G>T	ENSP00000352527:p.Gln70Lys		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.Q70K	ENST00000359534.3	37	c.208	CCDS4841.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129372	0.77549	.	.	ENSG00000164626	ENST00000359534	T	0.19394	2.15	5.47	4.59	0.56863	.	0.051977	0.85682	D	0.000000	T	0.05868	0.0153	N	0.12637	0.245	0.80722	D	1	B	0.10296	0.003	B	0.19946	0.027	T	0.17258	-1.0375	10	0.22706	T	0.39	.	16.5721	0.84615	0.0:0.1306:0.8694:0.0	.	70	O95279	KCNK5_HUMAN	K	70	ENSP00000352527:Q70K	ENSP00000352527:Q70K	Q	-	1	0	KCNK5	39271720	1.000000	0.71417	0.946000	0.38457	0.986000	0.74619	5.132000	0.64758	1.412000	0.46977	0.561000	0.74099	CAG	KCNK5	-	NULL	ENSG00000164626		0.473	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	-	0.00	71	0	G	NM_003740		39163742	-1	tier1	-	no_errors	ENST00000359534	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.999	T
KCTD14	65987	genome.wustl.edu	37	11	77727684	77727684	+	Silent	SNP	G	G	A	rs368467821		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:77727684G>A	ENST00000353172.5	-	2	767	c.723C>T	c.(721-723)aaC>aaT	p.N241N	KCTD14_ENST00000533144.1_Silent_p.N211N|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	241					protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AATGGAATTCGTTTCTTTTGG	0.443																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)												0								G	,,,	0,4400		0,0,2200	139.0	123.0	129.0		,,,723	-1.5	0.0	11		129	2,8582	2.2+/-6.3	0,2,4290	no	utr-3,utr-3,utr-3,coding-synonymous	KCTD14,NDUFC2-KCTD14	NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_023930.3	,,,	0,2,6490	AA,AG,GG		0.0233,0.0,0.0154	,,,	,,,241/256	77727684	2,12982	2200	4292	6492	SO:0001819	synonymous_variant	0			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.723C>T	11.37:g.77727684G>A			B2R9R8	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.N241	ENST00000353172.5	37	c.723	CCDS8255.2	11																																																																																			KCTD14	-	NULL	ENSG00000151364		0.443	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD14	HGNC	protein_coding	OTTHUMT00000316888.1	-	0.00	48	0	G	NM_023930		77727684	-1	tier1	-	no_errors	ENST00000353172	ensembl	human	known	74_37	silent	43.75	27	21	SNP	0.001	A
KIAA1191	57179	genome.wustl.edu	37	5	175775006	175775006	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:175775006G>T	ENST00000298569.4	-	8	1160	c.627C>A	c.(625-627)gaC>gaA	p.D209E	KIAA1191_ENST00000393725.2_Missense_Mutation_p.D190E|KIAA1191_ENST00000533553.1_3'UTR|KIAA1191_ENST00000510164.1_Missense_Mutation_p.D209E|KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	209						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CACTTCCAGAGTCCATGGTGC	0.473																																																	0													76.0	77.0	77.0					5																	175775006		2203	4298	6501	SO:0001583	missense	0			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.627C>A	5.37:g.175775006G>T	ENSP00000298569:p.Asp209Glu		B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	NULL	p.D209E	ENST00000298569.4	37	c.627	CCDS4399.1	5	.	.	.	.	.	.	.	.	.	.	G	15.59	2.880007	0.51801	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164	.	.	.	5.4	1.0	0.19881	.	0.171645	0.50627	D	0.000111	T	0.52306	0.1726	M	0.62016	1.91	0.80722	D	1	B	0.33448	0.412	B	0.40165	0.321	T	0.47045	-0.9147	9	0.51188	T	0.08	-14.9582	4.7948	0.13267	0.4566:0.0:0.3905:0.1529	.	209	Q96A73	K1191_HUMAN	E	209;190;209	.	ENSP00000298569:D209E	D	-	3	2	KIAA1191	175707612	0.998000	0.40836	0.997000	0.53966	0.565000	0.35776	0.900000	0.28431	0.341000	0.23771	-0.345000	0.07892	GAC	KIAA1191	-	NULL	ENSG00000122203		0.473	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2		0.00	28	0	G	NM_020444		175775006	-1			no_errors	ENST00000298569	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.990	T
NWD2	57495	genome.wustl.edu	37	4	37448106	37448106	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:37448106C>T	ENST00000309447.5	+	7	5344	c.4496C>T	c.(4495-4497)tCg>tTg	p.S1499L		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1499										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TTTATCACATCGGCCGAGACT	0.423																																																	0													96.0	78.0	83.0					4																	37448106		692	1591	2283	SO:0001583	missense	0																														ENST00000309447.5:c.4496C>T	4.37:g.37448106C>T	ENSP00000309501:p.Ser1499Leu		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S1499L	ENST00000309447.5	37	c.4496	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269703	0.40095	.	.	ENSG00000174145	ENST00000309447	T	0.71341	-0.56	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.66360	-0.5943	10	0.11794	T	0.64	.	20.1455	0.98074	0.0:1.0:0.0:0.0	.	1499	Q9ULI1	K1239_HUMAN	L	1499	ENSP00000309501:S1499L	ENSP00000309501:S1499L	S	+	2	0	KIAA1239	37124501	1.000000	0.71417	0.335000	0.25508	0.103000	0.19146	7.407000	0.80029	2.758000	0.94735	0.655000	0.94253	TCG	KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.423	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	-	0.00	35	0	C			37448106	+1	tier1	-	no_errors	ENST00000309447	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.998	T
KIAA1429	25962	genome.wustl.edu	37	8	95538542	95538543	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:95538542_95538543insA	ENST00000297591.5	-	8	2004_2005	c.1929_1930insT	c.(1927-1932)catacafs	p.T644fs	KIAA1429_ENST00000421249.2_Frame_Shift_Ins_p.T644fs|KIAA1429_ENST00000437199.1_Frame_Shift_Ins_p.T644fs	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	644					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGGATCATTGTATGAGGGGCAG	0.396																																																	0																																										SO:0001589	frameshift_variant	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1930dupT	8.37:g.95538543_95538543dupA	ENSP00000297591:p.Thr644fs		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.T643fs	ENST00000297591.5	37	c.1930_1929	CCDS34923.1	8																																																																																			KIAA1429	-	superfamily_ARM-type_fold	ENSG00000164944		0.396	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2		0.00	74	0	-	NM_015496		95538543	-1	tier1		no_errors	ENST00000297591	ensembl	human	known	74_37	frame_shift_ins	23.26	99	30	INS	0.997:0.994	A
KIF15	56992	genome.wustl.edu	37	3	44879865	44879865	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:44879865G>T	ENST00000326047.4	+	27	3419	c.3270G>T	c.(3268-3270)caG>caT	p.Q1090H	KIF15_ENST00000425755.1_Missense_Mutation_p.Q725H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1090					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTCTGCCCAGGAAGAACTGA	0.522																																																	0													54.0	58.0	56.0					3																	44879865		2203	4300	6503	SO:0001583	missense	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3270G>T	3.37:g.44879865G>T	ENSP00000324020:p.Gln1090His		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1090H	ENST00000326047.4	37	c.3270	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045827	0.36085	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.53640	0.61;0.61	5.26	1.93	0.25924	.	0.000000	0.48767	D	0.000162	T	0.43964	0.1271	N	0.24115	0.695	0.35217	D	0.7757	D	0.76494	0.999	D	0.66497	0.944	T	0.49835	-0.8897	10	0.28530	T	0.3	.	4.9819	0.14170	0.2764:0.1715:0.5521:0.0	.	1090	Q9NS87	KIF15_HUMAN	H	1090;1089;725	ENSP00000324020:Q1090H;ENSP00000389982:Q725H	ENSP00000324020:Q1090H	Q	+	3	2	KIF15	44854869	1.000000	0.71417	0.969000	0.41365	0.520000	0.34377	1.417000	0.34770	0.558000	0.29135	-0.182000	0.12963	CAG	KIF15	-	NULL	ENSG00000163808		0.522	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	-	0.00	21	0	G			44879865	+1	tier1	-	no_errors	ENST00000326047	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.998	T
KIF7	374654	genome.wustl.edu	37	15	90191892	90191892	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:90191892G>A	ENST00000394412.3	-	5	1113	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	346	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GATGTTCTGGGCGCGGCTGGC	0.711																																																	0													28.0	32.0	31.0					15																	90191892		688	1590	2278	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1037C>T	15.37:g.90191892G>A	ENSP00000377934:p.Ala346Val		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A346V	ENST00000394412.3	37	c.1037	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	g	25.1	4.598831	0.87055	.	.	ENSG00000166813	ENST00000394412	T	0.74526	-0.85	4.37	4.37	0.52481	Kinesin, motor domain (3);	.	.	.	.	T	0.82029	0.4948	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84720	0.0739	9	0.87932	D	0	.	16.9192	0.86159	0.0:0.0:1.0:0.0	.	346	Q2M1P5	KIF7_HUMAN	V	346	ENSP00000377934:A346V	ENSP00000377934:A346V	A	-	2	0	KIF7	87992896	1.000000	0.71417	0.949000	0.38748	0.197000	0.23852	9.321000	0.96353	1.981000	0.57761	0.556000	0.70494	GCC	KIF7	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000166813		0.711	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1		0.00	8	0	G	NM_198525		90191892	-1			no_errors	ENST00000394412	ensembl	human	known	74_37	missense	33.33	6	3	SNP	1.000	A
KLHL30	377007	genome.wustl.edu	37	2	239049972	239049972	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:239049972G>A	ENST00000409223.1	+	2	684	c.577G>A	c.(577-579)Gag>Aag	p.E193K	KLHL30_ENST00000305959.4_Missense_Mutation_p.E175K			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	193	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGTACAGCCGGAGCAAAGCCG	0.677																																																	0													11.0	15.0	14.0					2																	239049972		2087	4172	6259	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.577G>A	2.37:g.239049972G>A	ENSP00000386389:p.Glu193Lys		Q6ZUS1	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.E193K	ENST00000409223.1	37	c.577	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068807	0.76301	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.93547	-3.24;-3.24	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.053821	0.64402	D	0.000001	D	0.97448	0.9165	M	0.91561	3.22	0.51233	D	0.999914	D	0.71674	0.998	D	0.71870	0.975	D	0.97907	1.0306	10	0.87932	D	0	.	18.8769	0.92341	0.0:0.0:1.0:0.0	.	193	Q0D2K2	KLH30_HUMAN	K	193;175	ENSP00000386389:E193K;ENSP00000302386:E175K	ENSP00000302386:E175K	E	+	1	0	KLHL30	238714711	1.000000	0.71417	0.506000	0.27664	0.068000	0.16541	7.690000	0.84178	2.757000	0.94681	0.655000	0.94253	GAG	KLHL30	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.677	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	-	0.00	22	0	G	NM_198582		239049972	+1	tier1	-	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	74.00	13	37	SNP	1.000	A
KMT2B	9757	genome.wustl.edu	37	19	36214349	36214349	+	Splice_Site	DEL	A	A	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:36214349delA	ENST00000222270.7	+	7	3003	c.3003delA	c.(3001-3003)gta>gt	p.V1001fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Splice_Site_p.V1001fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1001					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCTCCCCAGATACCGGAAGT	0.537																																																	0													36.0	41.0	40.0					19																	36214349		1930	4120	6050	SO:0001630	splice_region_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3003-1A>-	19.37:g.36214349delA			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Y1002fs	ENST00000222270.7	37	c.3003	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax,pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000272333		0.537	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0.00	44	0	A	NM_014727	Frame_Shift_Del	36214349	+1	tier1		no_errors	ENST00000222270	ensembl	human	known	74_37	frame_shift_del	25.42	44	15	DEL	1.000	-
LGR6	59352	genome.wustl.edu	37	1	202276457	202276457	+	Splice_Site	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:202276457G>T	ENST00000367278.3	+	14	1297		c.e14-1		LGR6_ENST00000255432.7_Splice_Site|LGR6_ENST00000439764.2_Splice_Site	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTGCCTGCAGGGATCTTAGC	0.607																																																	0													152.0	120.0	131.0					1																	202276457		2203	4300	6503	SO:0001630	splice_region_variant	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1209-1G>T	1.37:g.202276457G>T			Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Splice_Site	SNP	-	e14-1	ENST00000367278.3	37	c.1209-1	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787058	0.70337	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2181	0.86950	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGR6	200543080	1.000000	0.71417	0.996000	0.52242	0.752000	0.42762	8.044000	0.89434	2.612000	0.88384	0.655000	0.94253	.	LGR6	-	-	ENSG00000133067		0.607	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1		0.00	37	0	G	NM_021636	Intron	202276457	+1			no_errors	ENST00000367278	ensembl	human	known	74_37	splice_site	5.71	33	2	SNP	1.000	T
LINC00917	732275	genome.wustl.edu	37	16	86371017	86371017	+	lincRNA	SNP	C	C	T	rs375346688	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr16:86371017C>T	ENST00000594203.1	-	0	1486									long intergenic non-protein coding RNA 917																		TCCGCCAGGGCTCCTGCTGCT	0.682													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16320	0.0		0.0	False		,,,				2504	0.0																0																																												0					16q24.1	2013-05-24			ENSG00000168367	ENSG00000168367		"""Long non-coding RNAs"""	48607	non-coding RNA	RNA, long non-coding							Standard	NR_024406		Approved				OTTHUMG00000183867		16.37:g.86371017C>T				RNA	SNP	-	NULL	ENST00000594203.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	C	9.368	1.069860	0.20147	.	.	ENSG00000168367	ENST00000304488	.	.	.	1.35	0.188	0.15114	.	.	.	.	.	T	0.44180	0.1281	.	.	.	.	.	.	.	.	.	.	.	.	T	0.52049	-0.8627	4	0.87932	D	0	.	4.5012	0.11865	0.0:0.5598:0.0:0.4402	.	.	.	.	T	69	.	ENSP00000304875:A69T	A	-	1	0	AC092327.1	84928518	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.092000	0.03366	-0.194000	0.10399	-0.339000	0.08088	GCC	LINC00917	-	-	ENSG00000168367		0.682	LINC00917-002	KNOWN	basic	lincRNA	LINC00917	HGNC	lincRNA	OTTHUMT00000467202.1	-	0.00	43	0	C			86371017	-1	tier1	-	no_errors	ENST00000304488	ensembl	human	known	74_37	rna	59.22	42	61	SNP	0.005	T
LMNB1	4001	genome.wustl.edu	37	5	126113552	126113554	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:126113552_126113554delCTC	ENST00000261366.5	+	1	713_715	c.352_354delCTC	c.(352-354)ctcdel	p.L119del	LMNB1_ENST00000395354.1_In_Frame_Del_p.L119del|RP11-434D11.4_ENST00000509185.2_lincRNA|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	119	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CGACCAGCTGCTCCTCAAGTGAG	0.719																																																	0																																										SO:0001651	inframe_deletion	0			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.352_354delCTC	5.37:g.126113555_126113557delCTC	ENSP00000261366:p.Leu119del		B2R6J6|Q3SYN7|Q96EI6	In_Frame_Del	DEL	pfam_IF,pfam_Lamin_tail_dom	p.L119in_frame_del	ENST00000261366.5	37	c.352_354	CCDS4140.1	5																																																																																			LMNB1	-	pfam_IF	ENSG00000113368		0.719	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNB1	HGNC	protein_coding	OTTHUMT00000250956.2		0.00	25	0	CTC	NM_005573		126113554	+1	tier1		no_errors	ENST00000261366	ensembl	human	known	74_37	in_frame_del	50.00	10	10	DEL	0.995:0.892:0.758	-
LOC100996415	100996415	genome.wustl.edu	37	22	20342426	20342426	+	RNA	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:20342426C>T	ENST00000454636.1	+	0	1119				XXbac-B33L19.6_ENST00000429995.1_lincRNA	NR_038388.1																						TCGCTAATGACGGCACCGTAC	0.473																																																	0																																												0																															22.37:g.20342426C>T				RNA	SNP	-	NULL	ENST00000454636.1	37	NULL		22																																																																																			XXbac-B33L19.3	-	-	ENSG00000188424		0.473	XXbac-B33L19.3-001	KNOWN	not_best_in_genome_evidence|basic	antisense	LOC100996415	Clone_based_vega_gene	antisense	OTTHUMT00000319010.2	-	0.00	56	0	C			20342426	+1	tier1	-	no_errors	ENST00000454636	ensembl	human	known	74_37	rna	9.33	68	7	SNP	0.007	T
PLPPR1	54886	genome.wustl.edu	37	9	104032144	104032144	+	Intron	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:104032144G>A	ENST00000374874.3	+	3	502				LPPR1_ENST00000395056.2_Intron	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN							nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TCTCTGTGTGGCCATGCTGTA	0.527																																																	0													127.0	114.0	119.0					9																	104032144		2203	4300	6503	SO:0001627	intron_variant	0																														ENST00000374874.3:c.64-18G>A	9.37:g.104032144G>A			Q5VX23|Q9NXE2	RNA	SNP	-	NULL	ENST00000374874.3	37	NULL	CCDS6751.1	9																																																																																			LPPR1	-	-	ENSG00000148123		0.527	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR1	Uniprot_gn	protein_coding	OTTHUMT00000053425.1	-	0.00	32	0	G			104032144	+1	tier1	-	no_errors	ENST00000463206	ensembl	human	known	74_37	rna	7.84	47	4	SNP	1.000	A
LRRC16B	90668	genome.wustl.edu	37	14	24530854	24530854	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:24530854C>A	ENST00000342740.5	+	27	2607	c.2453C>A	c.(2452-2454)gCa>gAa	p.A818E	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	818						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CTGGAGCAAGCAGGACAGGAC	0.597																																																	0													83.0	58.0	66.0					14																	24530854		2203	4300	6503	SO:0001583	missense	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2453C>A	14.37:g.24530854C>A	ENSP00000340467:p.Ala818Glu		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A818E	ENST00000342740.5	37	c.2453	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945591	0.73672	.	.	ENSG00000186648	ENST00000342740	T	0.17528	2.27	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.33962	0.0881	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.00628	-1.1637	10	0.42905	T	0.14	-14.6594	14.2767	0.66184	0.0:1.0:0.0:0.0	.	818	Q8ND23	LR16B_HUMAN	E	818	ENSP00000340467:A818E	ENSP00000340467:A818E	A	+	2	0	LRRC16B	23600694	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.708000	0.61859	2.735000	0.93741	0.655000	0.94253	GCA	LRRC16B	-	NULL	ENSG00000186648		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	-	0.00	20	0	C	NM_138360		24530854	+1	tier1	-	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	A
MAGEC3	139081	genome.wustl.edu	37	X	140984538	140984538	+	Intron	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:140984538G>A	ENST00000298296.1	+	7	1123				MAGEC3_ENST00000544766.1_Missense_Mutation_p.E34K|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E34K|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E34K|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCATAGATGAGGAGGAGGA	0.517																																																	0													148.0	110.0	123.0					X																	140984538		2203	4300	6503	SO:0001627	intron_variant	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1124-130G>A	X.37:g.140984538G>A			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E34K	ENST00000298296.1	37	c.100	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	g	10.60	1.396716	0.25205	.	.	ENSG00000165509	ENST00000536088;ENST00000544766;ENST00000409007	T;T;T	0.03889	3.77;3.77;3.77	1.18	1.18	0.20946	.	.	.	.	.	T	0.08758	0.0217	.	.	.	0.09310	N	0.999996	D	0.57571	0.98	P	0.59288	0.855	T	0.34650	-0.9820	8	0.24483	T	0.36	.	5.2968	0.15756	0.0:0.0:1.0:0.0	.	34	Q3SYA7	.	K	34	ENSP00000441107:E34K;ENSP00000440444:E34K;ENSP00000386566:E34K	ENSP00000386566:E34K	E	+	1	0	MAGEC3	140812204	0.029000	0.19370	0.173000	0.22940	0.112000	0.19704	0.330000	0.19715	0.860000	0.35481	0.179000	0.17066	GAG	MAGEC3	-	NULL	ENSG00000165509		0.517	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0.00	16	0	G	NM_138702		140984538	+1	tier1	-	no_errors	ENST00000536088	ensembl	human	known	74_37	missense	90.48	2	19	SNP	0.165	A
MAML2	84441	genome.wustl.edu	37	11	95825386	95825386	+	Silent	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:95825386C>T	ENST00000524717.1	-	2	3093	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	603					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgct	0.522			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													20.0	30.0	26.0					11																	95825386		1926	3789	5715	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1809G>A	11.37:g.95825386C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q603	ENST00000524717.1	37	c.1809	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.522	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0.00	69	0	C			95825386	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	silent	9.23	59	6	SNP	0.000	T
MANEA	79694	genome.wustl.edu	37	6	96044631	96044631	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:96044631G>T	ENST00000358812.4	+	3	697	c.563G>T	c.(562-564)tGg>tTg	p.W188L	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	188	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GCCCTCTCTTGGTACCCACCT	0.348																																																	0													180.0	164.0	169.0					6																	96044631		2203	4299	6502	SO:0001583	missense	0			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.563G>T	6.37:g.96044631G>T	ENSP00000351669:p.Trp188Leu		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.W188L	ENST00000358812.4	37	c.563	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806292	0.70682	.	.	ENSG00000172469	ENST00000358812	.	.	.	5.74	5.74	0.90152	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85436	0.1152	9	0.56958	D	0.05	-4.816	18.9103	0.92481	0.0:0.0:1.0:0.0	.	188	Q5SRI9	MANEA_HUMAN	L	188	.	ENSP00000351669:W188L	W	+	2	0	MANEA	96151352	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.329000	0.96413	2.716000	0.92895	0.650000	0.86243	TGG	MANEA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000172469		0.348	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1		0.00	24	0	G	NM_024641		96044631	+1			no_errors	ENST00000358812	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
MAP3K9	4293	genome.wustl.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)												1	Deletion - In frame(1)	ovary(1)																																								SO:0001651	inframe_deletion	0			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	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,superfamily_Regulat_G_prot_signal_superfam,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.E38in_frame_del	ENST00000554752.2	37	c.115_113		14																																																																																			MAP3K9	-	pirsf_MAPKKK9/10/11	ENSG00000006432		0.773	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2		0.00	17	0	CCT			71275776	-1	tier1		no_errors	ENST00000555993	ensembl	human	known	74_37	in_frame_del	15.38	22	4	DEL	1.000:1.000:0.998	-
MAST4	375449	genome.wustl.edu	37	5	66462641	66462641	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:66462641G>A	ENST00000403625.2	+	29	7929	c.7634G>A	c.(7633-7635)aGc>aAc	p.S2545N	MAST4_ENST00000261569.7_Missense_Mutation_p.S2351N|MAST4_ENST00000403666.1_Missense_Mutation_p.S2356N|MAST4_ENST00000404260.3_Missense_Mutation_p.S2548N|MAST4_ENST00000405643.1_Missense_Mutation_p.S2366N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2548						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGCGGGGCCAGCCACCGGGAC	0.647																																																	0													14.0	20.0	18.0					5																	66462641		1918	4108	6026	SO:0001583	missense	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7634G>A	5.37:g.66462641G>A	ENSP00000385727:p.Ser2545Asn		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.S2548N	ENST00000403625.2	37	c.7643	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440559	0.83993	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.64803	-0.09;-0.09;-0.12;-0.11;-0.09	4.96	4.96	0.65561	.	0.677041	0.14008	N	0.347662	T	0.50752	0.1634	N	0.19112	0.55	0.09310	N	1	B;B	0.26547	0.094;0.152	B;B	0.27500	0.037;0.08	T	0.43180	-0.9407	10	0.37606	T	0.19	-4.2771	16.9304	0.86189	0.0:0.0:1.0:0.0	.	2548;2356	O15021;O15021-3	MAST4_HUMAN;.	N	2548;2545;2356;2366;2366;2351	ENSP00000385048:S2548N;ENSP00000385727:S2545N;ENSP00000384313:S2356N;ENSP00000384099:S2366N;ENSP00000261569:S2351N	ENSP00000261569:S2351N	S	+	2	0	MAST4	66498397	0.994000	0.37717	0.469000	0.27204	0.884000	0.51177	5.750000	0.68712	2.734000	0.93682	0.561000	0.74099	AGC	MAST4	-	NULL	ENSG00000069020		0.647	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2		0.00	75	0	G			66462641	+1			no_errors	ENST00000404260	ensembl	human	known	74_37	missense	6.56	56	4	SNP	0.469	A
MDFI	4188	genome.wustl.edu	37	6	41621140	41621140	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:41621140G>T	ENST00000373050.4	+	4	572	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C				Q99750	MDFI_HUMAN	MyoD family inhibitor	190					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G190C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CGCCACCTGTGGCTCCTGCAG	0.657																																																	1	Substitution - Missense(1)	skin(1)											107.0	83.0	91.0					6																	41621140		2203	4300	6503	SO:0001583	missense	0			U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.385G>T	6.37:g.41621140G>T	ENSP00000362141:p.Gly129Cys			Missense_Mutation	SNP	NULL	p.G190C	ENST00000373050.4	37	c.568		6	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424417	0.83667	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050;ENST00000435476	.	.	.	5.1	5.1	0.69264	.	0.059016	0.64402	D	0.000002	T	0.72748	0.3499	M	0.78456	2.415	0.51482	D	0.999927	D	0.65815	0.995	P	0.59288	0.855	T	0.77073	-0.2723	9	0.66056	D	0.02	-3.9219	18.1318	0.89604	0.0:0.0:1.0:0.0	.	190	Q99750	MDFI_HUMAN	C	190;190;190;190;190;129;129	.	ENSP00000230321:G190C	G	+	1	0	MDFI	41729118	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.577000	0.67444	2.371000	0.80710	0.555000	0.69702	GGC	MDFI	-	NULL	ENSG00000112559		0.657	MDFI-002	NOVEL	basic	protein_coding	MDFI	HGNC	protein_coding	OTTHUMT00000040519.2		0.00	37	0	G	NM_005586		41621140	+1			no_errors	ENST00000230321	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
MEX3A	92312	genome.wustl.edu	37	1	156047372	156047372	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:156047372C>T	ENST00000532414.2	-	2	555	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	MEX3A_ENST00000442784.1_5'UTR|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	186	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCTGTGGCCACGTCCTCCCGT	0.612																																																	0													36.0	42.0	40.0					1																	156047372		2169	4272	6441	SO:0001583	missense	0			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.556G>A	1.37:g.156047372C>T	ENSP00000432845:p.Val186Met			Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.V186M	ENST00000532414.2	37	c.556	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512776	0.85389	.	.	ENSG00000254726	ENST00000532414	T	0.45668	0.89	5.15	5.15	0.70609	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.60741	0.2292	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66428	-0.5926	10	0.87932	D	0	.	17.1894	0.86875	0.0:1.0:0.0:0.0	.	186	A1L020	MEX3A_HUMAN	M	186	ENSP00000432845:V186M	ENSP00000432845:V186M	V	-	1	0	MEX3A	154313996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.409000	0.81822	0.462000	0.41574	GTG	MEX3A	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000254726		0.612	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	-	0.00	47	0	C	NM_001093725		156047372	-1	tier1	-	no_errors	ENST00000532414	ensembl	human	known	74_37	missense	41.94	17	13	SNP	1.000	T
MFSD8	256471	genome.wustl.edu	37	4	128841926	128841926	+	Silent	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:128841926G>T	ENST00000296468.3	-	13	1543	c.1416C>A	c.(1414-1416)atC>atA	p.I472I	MFSD8_ENST00000513559.1_Silent_p.I427I|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	472					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACACTTGGCTGATGAACATAG	0.512																																																	0													63.0	59.0	60.0					4																	128841926		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1416C>A	4.37:g.128841926G>T			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I472	ENST00000296468.3	37	c.1416	CCDS3736.1	4																																																																																			MFSD8	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000164073		0.512	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	-	0.00	65	0	G	NM_152778		128841926	-1	tier1	-	no_errors	ENST00000296468	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T
PITPNB	23760	genome.wustl.edu	37	22	28316591	28316591	+	5'Flank	SNP	T	T	G	rs75321888|rs78805657	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:28316591T>G	ENST00000335272.5	-	0	0				TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000419253.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000425112.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000417381.1_RNA|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000454996.1_RNA|TTC28-AS1_ENST00000428818.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|MIR3199-2_ENST00000582434.1_RNA|TTC28-AS1_ENST00000437713.1_RNA|PITPNB_ENST00000455418.3_5'Flank|PITPNB_ENST00000320996.10_5'Flank	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta						glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						AGGCAGTCCCTGGAGTCACCG	0.443																																																	0																																										SO:0001631	upstream_gene_variant	0			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976		22.37:g.28316591T>G	Exception_encountered		B3KYB8|B7Z7Q0|Q8N5W1	RNA	SNP	-	NULL	ENST00000335272.5	37	NULL	CCDS13842.1	22																																																																																			MIR3199-2	-	-	ENSG00000264073		0.443	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR3199-2	HGNC	protein_coding	OTTHUMT00000320740.1		0.00	30	0	T			28316591	-1			no_errors	ENST00000582434	ensembl	human	known	74_37	rna	10.42	43	5	SNP	0.002	G
SLIT3	6586	genome.wustl.edu	37	5	168690685	168690685	+	Intron	SNP	G	G	A	rs377746827		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:168690685G>A	ENST00000519560.1	-	2	617				SLIT3_ENST00000521130.1_Intron|SLIT3_ENST00000404867.3_Intron|MIR585_ENST00000384887.1_RNA|SLIT3_ENST00000332966.8_Intron	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTGCCATAGCACAGACACC	0.557																																					Ovarian(29;311 847 10864 17279 24903)												0													42.0	42.0	42.0					5																	168690685		1568	3582	5150	SO:0001627	intron_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.198-12222C>T	5.37:g.168690685G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	RNA	SNP	-	NULL	ENST00000519560.1	37	NULL	CCDS4369.1	5																																																																																			MIR585	-	-	ENSG00000207619		0.557	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR585	HGNC	protein_coding	OTTHUMT00000252792.4	-	0.00	71	0	G	NM_003062		168690685	-1	tier1	-	no_errors	ENST00000384887	ensembl	human	known	74_37	rna	36.00	32	18	SNP	0.000	A
MLPH	79083	genome.wustl.edu	37	2	238419374	238419374	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:238419374delA	ENST00000264605.3	+	3	562	c.268delA	c.(268-270)aaafs	p.K90fs	MLPH_ENST00000409373.1_Frame_Shift_Del_p.K90fs|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Frame_Shift_Del_p.K90fs|MLPH_ENST00000338530.4_Frame_Shift_Del_p.K90fs|MLPH_ENST00000410032.1_Frame_Shift_Del_p.K90fs	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	90	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTTCACCTGCAAAAGCTGTGG	0.602																																																	0													46.0	47.0	47.0					2																	238419374		2203	4300	6503	SO:0001589	frameshift_variant	0			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.268delA	2.37:g.238419374delA	ENSP00000264605:p.Lys90fs		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Frame_Shift_Del	DEL	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.S91fs	ENST00000264605.3	37	c.268	CCDS2518.1	2																																																																																			MLPH	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000115648		0.602	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2		0.00	40	0	A	NM_024101		238419374	+1	tier1		no_errors	ENST00000264605	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.940	-
MPC1	51660	genome.wustl.edu	37	6	166779523	166779523	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:166779523C>T	ENST00000360961.6	-	4	365	c.244G>A	c.(244-246)Gca>Aca	p.A82T	MPC1_ENST00000341756.6_Missense_Mutation_p.A82T|MPC1_ENST00000487218.1_5'UTR	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	82					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										GCGTGGCATGCAAACAGAAGC	0.443																																																	0													89.0	82.0	84.0					6																	166779523		2203	4300	6503	SO:0001583	missense	0			AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.244G>A	6.37:g.166779523C>T	ENSP00000354223:p.Ala82Thr		B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Missense_Mutation	SNP	pfam_MPC	p.A82T	ENST00000360961.6	37	c.244	CCDS5293.1	6	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221262	0.79464	.	.	ENSG00000060762	ENST00000360961;ENST00000341756;ENST00000392123	T;T	0.72505	-0.66;-0.66	5.93	5.93	0.95920	.	0.137747	0.64402	D	0.000003	T	0.73590	0.3606	M	0.86651	2.83	0.80722	D	1	B	0.31790	0.34	B	0.38683	0.279	T	0.75172	-0.3411	10	0.52906	T	0.07	-7.7894	17.8477	0.88736	0.0:1.0:0.0:0.0	.	82	Q9Y5U8	BR44L_HUMAN	T	82;82;39	ENSP00000354223:A82T;ENSP00000340784:A82T	ENSP00000340784:A82T	A	-	1	0	BRP44L	166699513	1.000000	0.71417	0.027000	0.17364	0.557000	0.35523	7.002000	0.76304	2.826000	0.97356	0.655000	0.94253	GCA	MPC1	-	pfam_MPC	ENSG00000060762		0.443	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPC1	HGNC	protein_coding	OTTHUMT00000043052.1	-	0.00	57	0	C	NM_016098		166779523	-1	tier1	-	no_errors	ENST00000341756	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.976	T
MSN	4478	genome.wustl.edu	37	X	64956728	64956730	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:64956728_64956730delAGG	ENST00000360270.5	+	9	1203_1205	c.1031_1033delAGG	c.(1030-1035)aaggag>aag	p.E346del		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	346					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|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)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						gaacgggagaaggaggagctgat	0.473			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0										8,3707		0,4,4,1587,529						4.4	1.0			96	37,6438		0,15,22,2341,1741	no	coding	MSN	NM_002444.2		0,19,26,3928,2270	A1A1,A1R,A1,RR,R		0.5714,0.2153,0.4416				45,10145				SO:0001651	inframe_deletion	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1031_1033delAGG	X.37:g.64956731_64956733delAGG	ENSP00000353408:p.Glu346del			In_Frame_Del	DEL	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E346in_frame_del	ENST00000360270.5	37	c.1031_1033	CCDS14382.1	X																																																																																			MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.473	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0.00	27	0	AGG	NM_002444		64956730	+1			no_errors	ENST00000360270	ensembl	human	known	74_37	in_frame_del	22.22	28	8	DEL	1.000:0.998:1.000	0
MSN	4478	genome.wustl.edu	37	X	64956743	64956743	+	Missense_Mutation	SNP	A	A	G	rs200135811		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:64956743A>G	ENST00000360270.5	+	9	1218	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	349					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|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)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E349G(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						gagctgatggagaggctgaag	0.493			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	skin(1)											105.0	84.0	91.0					X																	64956743		2203	4299	6502	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1046A>G	X.37:g.64956743A>G	ENSP00000353408:p.Glu349Gly			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,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E349G	ENST00000360270.5	37	c.1046	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810728	0.50421	.	.	ENSG00000147065	ENST00000360270	D	0.83837	-1.77	4.56	3.39	0.38822	Ezrin/radixin/moesin, C-terminal (1);	0.283599	0.40385	N	0.001109	D	0.83431	0.5253	M	0.85945	2.785	0.58432	D	0.999995	B	0.27229	0.172	B	0.36186	0.219	T	0.77338	-0.2625	10	0.34782	T	0.22	.	5.9609	0.19299	0.8811:0.0:0.1189:0.0	.	349	P26038	MOES_HUMAN	G	349	ENSP00000353408:E349G	ENSP00000353408:E349G	E	+	2	0	MSN	64873468	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.780000	0.75063	0.705000	0.31890	0.481000	0.45027	GAG	MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.493	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0.00	24	0	A	NM_002444		64956743	+1			no_errors	ENST00000360270	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	G
MT-CO1	4512	genome.wustl.edu	37	M	5997	5997	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrM:5997G>A	ENST00000361624.2	+	1	94	c.94G>A	c.(94-96)Gct>Act	p.A32T	MT-TM_ENST00000387377.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	32					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCCTAGGCACAGCTCTAAGCC	0.502																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.94G>A	M.37:g.5997G>A	ENSP00000354499:p.Ala32Thr		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.A32T	ENST00000361624.2	37	c.94		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.502	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	39	0	G	YP_003024028		5997	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	88.10	5	37	SNP	NULL	A
MTR	4548	genome.wustl.edu	37	1	236959022	236959022	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:236959022G>T	ENST00000366577.5	+	1	413	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	MTR_ENST00000418145.2_Missense_Mutation_p.K134N|MTR_ENST00000535889.1_Missense_Mutation_p.D7Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	7					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGCGCTCCAAGACCTGTCGCA	0.622																																																	0													101.0	78.0	86.0					1																	236959022		2203	4300	6503	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.19G>T	1.37:g.236959022G>T	ENSP00000355536:p.Asp7Tyr		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.D7Y	ENST00000366577.5	37	c.19	CCDS1614.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.059740|3.059740	0.55325|0.55325	.|.	.|.	ENSG00000116984|ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889|ENST00000418145	T;T|.	0.68331|.	-0.31;-0.32|.	3.06|3.06	2.12|2.12	0.27331|0.27331	.|.	2.005360|.	0.02048|.	N|.	0.049859|.	T|T	0.35248|0.35248	0.0925|0.0925	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.29731|0.29731	-1.0002|-1.0002	10|6	0.72032|0.87932	D|D	0.01|0	1.4456|1.4456	8.1993|8.1993	0.31415|0.31415	0.0:0.2468:0.7532:0.0|0.0:0.2468:0.7532:0.0	.|.	7;7;7|.	B7ZLW8;B7ZLW7;Q99707|.	.;.;METH_HUMAN|.	Y|N	7|134	ENSP00000355536:D7Y;ENSP00000441845:D7Y|.	ENSP00000355536:D7Y|ENSP00000402255:K134N	D|K	+|+	1|3	0|2	MTR|MTR	235025645|235025645	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.981000|0.981000	0.71138|0.71138	0.796000|0.796000	0.26986|0.26986	0.817000|0.817000	0.34445|0.34445	0.545000|0.545000	0.68477|0.68477	GAC|AAG	MTR	-	NULL	ENSG00000116984		0.622	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0.00	96	0	G	NM_000254		236959022	+1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	40.00	51	34	SNP	0.001	T
MTRF1L	54516	genome.wustl.edu	37	6	153310937	153310937	+	3'UTR	DEL	A	A	-	rs368338572	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:153310937delA	ENST00000367233.5	-	0	1235				RP1-101K10.6_ENST00000442269.1_RNA|MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000367230.1_3'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like							mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GTGTTAACTCAACGTTTTTCA	0.313													A|AA|A|insertion	116	0.0231629	0.0212	0.036	5008	,	,		16324	0.0139		0.0129	False		,,,				2504	0.0368																0																																										SO:0001624	3_prime_UTR_variant	0			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.*93T>-	6.37:g.153310937delA			B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	RNA	DEL	-	NULL	ENST00000367233.5	37	NULL	CCDS5243.1	6																																																																																			MTRF1L	-	-	ENSG00000112031		0.313	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1L	HGNC	protein_coding	OTTHUMT00000042764.1		0.00	18	0	A	NM_019041		153310937	-1	tier1		no_errors	ENST00000461949	ensembl	human	known	74_37	rna	14.29	24	4	DEL	0.168	-
MUC16	94025	genome.wustl.edu	37	19	9084082	9084082	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:9084082G>T	ENST00000397910.4	-	1	7936	c.7733C>A	c.(7732-7734)cCa>cAa	p.P2578Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2578	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTGTAGTTGGGGTCTGTGG	0.483																																																	0													180.0	176.0	178.0					19																	9084082		1997	4178	6175	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7733C>A	19.37:g.9084082G>T	ENSP00000381008:p.Pro2578Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P2578Q	ENST00000397910.4	37	c.7733	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.889	-0.455828	0.04540	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	0.225	0.225	0.15325	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.71184	0.972	T	0.41592	-0.9500	7	0.87932	D	0	.	.	.	.	.	2578	B5ME49	.	Q	2578	ENSP00000381008:P2578Q	ENSP00000381008:P2578Q	P	-	2	0	MUC16	8945082	0.216000	0.23585	0.168000	0.22838	0.171000	0.22731	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	CCA	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	101	0	G	NM_024690		9084082	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	31.01	109	49	SNP	0.220	T
MYH11	4629	genome.wustl.edu	37	16	15818261	15818261	+	Silent	SNP	G	G	A	rs377329568		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr16:15818261G>A	ENST00000300036.5	-	31	4231	c.4122C>T	c.(4120-4122)tcC>tcT	p.S1374S	NDE1_ENST00000342673.5_3'UTR|MYH11_ENST00000396324.3_Silent_p.S1381S|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Silent_p.S1381S|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000576790.2_Silent_p.S1374S|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000396354.1_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1374					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTCGAGTCGGAGAGCTACA	0.587			T	CBFB	AML								G|||	1	0.000199681	0.0	0.0	5008	,	,		17242	0.0		0.0	False		,,,				2504	0.001							Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													47.0	41.0	43.0					16																	15818261		2197	4300	6497	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4122C>T	16.37:g.15818261G>A			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.S1381	ENST00000300036.5	37	c.4143	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_tail	ENSG00000133392		0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0.00	19	0	G	NM_001040113		15818261	-1			no_errors	ENST00000396324	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.654	A
MYO18B	84700	genome.wustl.edu	37	22	26423370	26423370	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:26423370C>T	ENST00000407587.2	+	43	7602	c.7433C>T	c.(7432-7434)aCg>aTg	p.T2478M	MYO18B_ENST00000536101.1_Missense_Mutation_p.T2477M|MYO18B_ENST00000335473.7_Missense_Mutation_p.T2477M			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2477						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACTTTGAAACGGAAGAGGCT	0.557																																																	0													87.0	89.0	89.0					22																	26423370		2004	4154	6158	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7433C>T	22.37:g.26423370C>T	ENSP00000386096:p.Thr2478Met		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T2477M	ENST00000407587.2	37	c.7430		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.542|3.542	-0.093406|-0.093406	0.07053|0.07053	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86865	.|-2.16;-2.16;-2.18	5.17|5.17	-2.12|-2.12	0.07165|0.07165	.|.	.|0.498789	.|0.17030	.|N	.|0.189743	T|T	0.71728|0.71728	0.3374|0.3374	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.23540	.|0.032;0.052;0.052;0.087;0.087	.|B;B;B;B;B	.|0.13407	.|0.006;0.002;0.002;0.009;0.006	T|T	0.56842|0.56842	-0.7912|-0.7912	5|10	.|0.36615	.|T	.|0.2	.|.	1.6467|1.6467	0.02763|0.02763	0.1252:0.2638:0.1743:0.4366|0.1252:0.2638:0.1743:0.4366	.|.	.|1990;2479;2477;2478;2477	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	W|M	427|2477;2477;2478	.|ENSP00000441229:T2477M;ENSP00000334563:T2477M;ENSP00000386096:T2478M	.|ENSP00000334563:T2477M	R|T	+|+	1|2	2|0	MYO18B|MYO18B	24753370|24753370	0.004000|0.004000	0.15560|0.15560	0.051000|0.051000	0.19133|0.19133	0.001000|0.001000	0.01503|0.01503	-0.165000|-0.165000	0.09968|0.09968	-0.160000|-0.160000	0.11002|0.11002	-0.258000|-0.258000	0.10820|0.10820	CGG|ACG	MYO18B	-	NULL	ENSG00000133454		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0.00	41	0	C	NM_032608		26423370	+1			no_errors	ENST00000335473	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.006	T
MYOF	26509	genome.wustl.edu	37	10	95070368	95070368	+	Missense_Mutation	SNP	G	G	T	rs186335544	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:95070368G>T	ENST00000359263.4	-	52	5921	c.5922C>A	c.(5920-5922)aaC>aaA	p.N1974K	MYOF_ENST00000371501.4_Missense_Mutation_p.N1974K|MYOF_ENST00000358334.5_Missense_Mutation_p.N1961K|MYOF_ENST00000371502.4_Missense_Mutation_p.N1964K	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1974					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTCCTTCTCGTTGAGGATTT	0.488																																																	0													113.0	113.0	113.0					10																	95070368		1906	4117	6023	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5922C>A	10.37:g.95070368G>T	ENSP00000352208:p.Asn1974Lys		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.N1974K	ENST00000359263.4	37	c.5922	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437783	0.43326	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82433	-1.6;-1.6;-1.61;-1.61	5.17	-1.82	0.07857	.	0.266940	0.46442	D	0.000289	T	0.76485	0.3994	L	0.49126	1.545	0.37542	D	0.918341	B;B	0.33280	0.365;0.405	B;B	0.36608	0.229;0.137	T	0.70648	-0.4814	10	0.72032	D	0.01	-27.6842	10.3193	0.43756	0.6972:0.0:0.3028:0.0	.	1961;1974	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	K	1961;1974;1974;1964	ENSP00000351094:N1961K;ENSP00000352208:N1974K;ENSP00000360556:N1974K;ENSP00000360557:N1964K	ENSP00000351094:N1961K	N	-	3	2	MYOF	95060358	0.013000	0.17824	0.989000	0.46669	0.983000	0.72400	-0.860000	0.04272	-0.470000	0.06901	-0.390000	0.06520	AAC	MYOF	-	NULL	ENSG00000138119		0.488	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	-	0.00	98	0	G	NM_013451		95070368	-1	tier1	-	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	44.80	69	56	SNP	0.993	T
NAMPT	10135	genome.wustl.edu	37	7	105910715	105910715	+	Intron	SNP	T	T	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:105910715T>C	ENST00000222553.3	-	5	755				NAMPT_ENST00000484527.1_Intron|NAMPT_ENST00000354289.4_Intron	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase						cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						atAAACCAGATTGTTATTTGA	0.299																																																	0													2.0	2.0	2.0					7																	105910715		596	1358	1954	SO:0001627	intron_variant	0			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.448-957A>G	7.37:g.105910715T>C			A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	RNA	SNP	-	NULL	ENST00000222553.3	37	NULL	CCDS5737.1	7																																																																																			NAMPT	-	-	ENSG00000105835		0.299	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAMPT	HGNC	protein_coding	OTTHUMT00000277146.1	-	0.00	68	0	T	NM_182790		105910715	-1	tier1	-	no_errors	ENST00000393618	ensembl	human	known	74_37	rna	33.64	71	36	SNP	0.001	C
NAPSA	9476	genome.wustl.edu	37	19	50865438	50865438	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:50865438G>T	ENST00000253719.2	-	2	424	c.216C>A	c.(214-216)aaC>aaA	p.N72K	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	72					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)		CATCCCTGTAGTTCGAGAGAG	0.562																																																	0													73.0	64.0	67.0					19																	50865438		2203	4300	6503	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.216C>A	19.37:g.50865438G>T	ENSP00000253719:p.Asn72Lys		Q8WWD9	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.N72K	ENST00000253719.2	37	c.216	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	G	5.823	0.336100	0.11013	.	.	ENSG00000131400	ENST00000253719	T	0.32515	1.45	4.11	-2.64	0.06114	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.284508	0.42682	N	0.000678	T	0.16685	0.0401	L	0.35487	1.065	0.38325	D	0.943639	B	0.02656	0.0	B	0.04013	0.001	T	0.02661	-1.1127	10	0.52906	T	0.07	.	4.2848	0.10850	0.326:0.3191:0.3549:0.0	.	72	O96009	NAPSA_HUMAN	K	72	ENSP00000253719:N72K	ENSP00000253719:N72K	N	-	3	2	NAPSA	55557250	1.000000	0.71417	0.007000	0.13788	0.007000	0.05969	0.748000	0.26305	-0.308000	0.08792	-0.339000	0.08088	AAC	NAPSA	-	superfamily_Peptidase_aspartic_dom	ENSG00000131400		0.562	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1		0.00	48	0	G	NM_004851		50865438	-1			no_errors	ENST00000253719	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.930	T
NBEAL2	23218	genome.wustl.edu	37	3	47045639	47045639	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:47045639G>T	ENST00000450053.3	+	37	6133	c.5954G>T	c.(5953-5955)cGt>cTt	p.R1985L	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1801L|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R264L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1985					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AACCTGCGCCGTTCAGCACTT	0.592																																																	0													168.0	179.0	175.0					3																	47045639		2094	4209	6303	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5954G>T	3.37:g.47045639G>T	ENSP00000415034:p.Arg1985Leu		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1985L	ENST00000450053.3	37	c.5954	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.128020|5.128020	0.94473|0.94473	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000416683	T;T;T|.	0.59502|.	0.28;0.84;0.26|.	4.92|4.92	4.92|4.92	0.64577|0.64577	PH-BEACH domain (1);|.	0.117227|.	0.56097|.	D|.	0.000039|.	T|T	0.78419|0.78419	0.4280|0.4280	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.983|.	D;D|.	0.87578|.	0.998;0.924|.	T|T	0.80108|0.80108	-0.1520|-0.1520	10|5	0.72032|.	D|.	0.01|.	.|.	16.8698|16.8698	0.86038|0.86038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1801;1985|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	L|F	1801;264;1985|1273	ENSP00000292309:R1801L;ENSP00000373246:R264L;ENSP00000415034:R1985L|.	ENSP00000292309:R1801L|.	R|V	+|+	2|1	0|0	NBEAL2|NBEAL2	47020643|47020643	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.960000|0.960000	0.62799|0.62799	9.657000|9.657000	0.98554|0.98554	2.573000|2.573000	0.86826|0.86826	0.561000|0.561000	0.74099|0.74099	CGT|GTT	NBEAL2	-	NULL	ENSG00000160796		0.592	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3		0.00	54	0	G	XM_291064		47045639	+1			no_errors	ENST00000450053	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.999	T
NFASC	23114	genome.wustl.edu	37	1	204945917	204945917	+	Missense_Mutation	SNP	G	G	A	rs113197466		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:204945917G>A	ENST00000401399.1	+	15	2024	c.1825G>A	c.(1825-1827)Gtg>Atg	p.V609M	NFASC_ENST00000404907.1_Missense_Mutation_p.V620M|NFASC_ENST00000539706.1_Missense_Mutation_p.V620M|NFASC_ENST00000360049.4_Missense_Mutation_p.V620M|NFASC_ENST00000367171.4_Missense_Mutation_p.V609M|NFASC_ENST00000339876.6_Missense_Mutation_p.V609M|NFASC_ENST00000367172.4_Missense_Mutation_p.V609M|NFASC_ENST00000367170.4_Missense_Mutation_p.V609M|NFASC_ENST00000513543.1_Missense_Mutation_p.V620M|NFASC_ENST00000338586.6_Missense_Mutation_p.V609M|NFASC_ENST00000403080.1_Missense_Mutation_p.V609M|NFASC_ENST00000367169.4_Missense_Mutation_p.V609M|NFASC_ENST00000338515.6_Missense_Mutation_p.V609M|NFASC_ENST00000404076.1_Missense_Mutation_p.V603M			O94856	NFASC_HUMAN	neurofascin	609					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTACCTCACCGTGCTAGGTAA	0.657																																																	0													156.0	127.0	137.0					1																	204945917		2203	4300	6503	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1825G>A	1.37:g.204945917G>A	ENSP00000385637:p.Val609Met		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V609M	ENST00000401399.1	37	c.1825	CCDS53460.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951521	0.73787	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	D;T;D;D;D;D;T;T;D;D;T;D;T;T;D	0.87966	-2.32;-1.24;-2.32;-2.32;-2.32;-2.32;-1.24;-1.24;-2.32;-2.32;-1.24;-2.32;-1.24;-1.24;-2.32	4.87	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000184	D	0.94994	0.8380	H	0.97131	3.945	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.988;0.998;0.998;0.995;0.994;0.973	D	0.95249	0.8358	10	0.87932	D	0	.	8.6997	0.34318	0.1705:0.0:0.8295:0.0	.	609;620;620;609;609;620;609	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3;O94856-2	NFASC_HUMAN;.;.;.;.;.;.	M	609;609;609;609;609;609;620;620;620;609;609;603;609;620;620;596	ENSP00000356140:V609M;ENSP00000356139:V609M;ENSP00000356138:V609M;ENSP00000342128:V609M;ENSP00000344786:V609M;ENSP00000343509:V609M;ENSP00000438614:V620M;ENSP00000353154:V620M;ENSP00000356137:V609M;ENSP00000384875:V609M;ENSP00000385676:V603M;ENSP00000385637:V609M;ENSP00000384061:V620M;ENSP00000425908:V620M;ENSP00000415031:V596M	ENSP00000295776:V620M	V	+	1	0	NFASC	203212540	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	6.728000	0.74769	2.258000	0.74832	0.561000	0.74099	GTG	NFASC	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000163531		0.657	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0.00	26	0	G	NM_001005388		204945917	+1	tier1	rs113197466	no_errors	ENST00000367172	ensembl	human	known	74_37	missense	39.02	25	16	SNP	0.991	A
NLGN1	22871	genome.wustl.edu	37	3	173525608	173525608	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:173525608G>A	ENST00000457714.1	+	4	1061	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	NLGN1_ENST00000545397.1_Missense_Mutation_p.R211Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R211Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R251Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	228					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R211L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCAACTATCGACTTGGAGTA	0.383																																																	2	Substitution - Missense(2)	lung(2)											141.0	134.0	136.0					3																	173525608		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.632G>A	3.37:g.173525608G>A	ENSP00000392500:p.Arg211Gln		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R251Q	ENST00000457714.1	37	c.752	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.561031	0.96527	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	D	0.97857	0.9296	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.99274	1.0894	10	0.87932	D	0	.	19.698	0.96034	0.0:0.0:1.0:0.0	.	251;211	D2X2H5;Q8N2Q7-2	.;.	Q	211;211;251;211;251	ENSP00000392500:R211Q;ENSP00000354541:R211Q;ENSP00000410374:R251Q;ENSP00000441108:R211Q;ENSP00000385750:R251Q	ENSP00000354541:R211Q	R	+	2	0	NLGN1	175008302	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.665000	0.90641	0.557000	0.71058	CGA	NLGN1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000169760		0.383	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3		0.00	41	0	G	NM_014932		173525608	+1			no_errors	ENST00000401917	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
NOTCH1	4851	genome.wustl.edu	37	9	139417576	139417577	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:139417576_139417577insA	ENST00000277541.6	-	4	542_543	c.467_468insT	c.(466-468)ctgfs	p.L156fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	156	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGAAGGGCAGGCACTGGCC	0.663			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.468dupT	9.37:g.139417577_139417577dupA	ENSP00000277541:p.Leu156fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.P157fs	ENST00000277541.6	37	c.468_467	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.663	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0.00	69	0	-	NM_017617		139417577	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_ins	59.74	31	46	INS	1.000:1.000	A
NR0B1	190	genome.wustl.edu	37	X	30326923	30326923	+	Silent	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:30326923C>T	ENST00000378970.4	-	1	792	c.558G>A	c.(556-558)gcG>gcA	p.A186A	NR0B1_ENST00000453287.1_Silent_p.A186A|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	186	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGCCTGGTAGCGCCTCTTTAC	0.697											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11.0	9.0	9.0					X																	30326923		2184	4256	6440	SO:0001819	synonymous_variant	0			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.558G>A	X.37:g.30326923C>T		816	Q96F69	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.A186	ENST00000378970.4	37	c.558	CCDS14223.1	X																																																																																			NR0B1	-	NULL	ENSG00000169297		0.697	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	-	0.00	12	0	C	NM_000475		30326923	-1	tier1	-	no_errors	ENST00000378970	ensembl	human	known	74_37	silent	80.00	2	8	SNP	0.034	T
NSD1	64324	genome.wustl.edu	37	5	176696681	176696681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:176696681delC	ENST00000439151.2	+	16	5427	c.5382delC	c.(5380-5382)ttcfs	p.F1794fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.F1691fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.F1525fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.F1525fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1794	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGGAGAGTTCCCAGTCCTCT	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													119.0	112.0	115.0					5																	176696681		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5382delC	5.37:g.176696681delC	ENSP00000395929:p.Phe1794fs		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P1795fs	ENST00000439151.2	37	c.5382	CCDS4412.1	5																																																																																			NSD1	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000165671		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0.00	80	0	C	NM_172349		176696681	+1	tier1		no_errors	ENST00000439151	ensembl	human	known	74_37	frame_shift_del	59.18	20	29	DEL	0.999	-
NTM	50863	genome.wustl.edu	37	11	132016295	132016295	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:132016295C>T	ENST00000374786.1	+	2	766	c.287C>T	c.(286-288)aCg>aTg	p.T96M	NTM_ENST00000374791.3_Missense_Mutation_p.T96M|NTM_ENST00000425719.2_Missense_Mutation_p.T96M|NTM_ENST00000539799.1_Missense_Mutation_p.T96M|NTM_ENST00000427481.2_Missense_Mutation_p.T87M|NTM_ENST00000374784.1_Missense_Mutation_p.T96M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	96	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AACACCCAAACGCAGTACAGC	0.577																																																	0													194.0	135.0	155.0					11																	132016295		2201	4297	6498	SO:0001583	missense	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.287C>T	11.37:g.132016295C>T	ENSP00000363918:p.Thr96Met		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T96M	ENST00000374786.1	37	c.287	CCDS8491.1	11	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328640	0.60743	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170160	0.52532	D	0.000064	T	0.32164	0.0820	N	0.25201	0.72	0.40809	D	0.983408	D;P;P;P;P;P	0.55172	0.97;0.941;0.686;0.941;0.872;0.686	P;P;P;P;P;P	0.54372	0.75;0.75;0.635;0.75;0.541;0.635	T	0.07443	-1.0772	10	0.62326	D	0.03	-25.1658	10.5623	0.45152	0.0:0.7956:0.1331:0.0713	.	96;87;96;96;96;96	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	96;96;87;87;96;96;96	ENSP00000363923:T96M;ENSP00000437668:T96M;ENSP00000448104:T87M;ENSP00000416320:T87M;ENSP00000363918:T96M;ENSP00000396722:T96M;ENSP00000363916:T96M	ENSP00000363916:T96M	T	+	2	0	NTM	131521505	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.300000	0.43620	2.691000	0.91804	0.655000	0.94253	ACG	NTM	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182667		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0.00	65	0	C	NM_016522		132016295	+1	tier1	-	no_errors	ENST00000539799	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	T
NUP210L	91181	genome.wustl.edu	37	1	154031052	154031052	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:154031052G>T	ENST00000368559.3	-	21	3039	c.2968C>A	c.(2968-2970)Ctg>Atg	p.L990M	NUP210L_ENST00000271854.3_Missense_Mutation_p.L990M|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	990					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTATCAATCAGATCAAGCTCC	0.418																																																	0													88.0	82.0	84.0					1																	154031052		1885	4105	5990	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2968C>A	1.37:g.154031052G>T	ENSP00000357547:p.Leu990Met		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.L990M	ENST00000368559.3	37	c.2968	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919658	0.52653	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.07800	3.42;3.16	4.33	2.41	0.29592	.	0.000000	0.41823	D	0.000809	T	0.08088	0.0202	L	0.41236	1.265	0.29017	N	0.886491	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.10683	-1.0619	10	0.48119	T	0.1	-13.9391	8.3327	0.32195	0.1929:0.0:0.8071:0.0	.	990;990	E7EP56;Q5VU65	.;P210L_HUMAN	M	990	ENSP00000357547:L990M;ENSP00000271854:L990M	ENSP00000271854:L990M	L	-	1	2	NUP210L	152297676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.749000	0.26320	0.451000	0.26802	0.591000	0.81541	CTG	NUP210L	-	NULL	ENSG00000143552		0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3		0.00	38	0	G	NM_207308		154031052	-1			no_errors	ENST00000368559	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
OBSL1	23363	genome.wustl.edu	37	2	220432086	220432087	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:220432086_220432087delCA	ENST00000404537.1	-	4	1801_1802	c.1745_1746delTG	c.(1744-1746)gtgfs	p.V582fs	OBSL1_ENST00000289656.3_Frame_Shift_Del_p.V169fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.V582fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.V582fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.V582fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.V582fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	582	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCTCGGAGGGCACACAGTCGCC	0.614																																																	0																																										SO:0001589	frameshift_variant	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1745_1746delTG	2.37:g.220432090_220432091delCA	ENSP00000385636:p.Val582fs		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V582fs	ENST00000404537.1	37	c.1746_1745	CCDS46520.1	2																																																																																			OBSL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000124006		0.614	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1		0.00	31	0	CA			220432087	-1	tier1		no_errors	ENST00000404537	ensembl	human	known	74_37	frame_shift_del	21.43	33	9	DEL	0.998:1.000	-
OR2M4	26245	genome.wustl.edu	37	1	248402987	248402987	+	Missense_Mutation	SNP	G	G	T	rs553128658		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:248402987G>T	ENST00000306687.1	+	1	757	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	253					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G253R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTCTACTACGGTGCTGCTAT	0.537																																																	1	Substitution - Missense(1)	lung(1)											122.0	108.0	113.0					1																	248402987		2203	4300	6503	SO:0001583	missense	0			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.757G>T	1.37:g.248402987G>T	ENSP00000306688:p.Gly253Cys		Q15611|Q8NG82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G253C	ENST00000306687.1	37	c.757	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.036999	0.54896	.	.	ENSG00000171180	ENST00000306687	T	0.38722	1.12	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000789	T	0.66616	0.2807	M	0.86864	2.845	0.09310	N	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.60125	-0.7324	10	0.87932	D	0	.	12.5107	0.56003	0.0:0.0:1.0:0.0	.	253	Q96R27	OR2M4_HUMAN	C	253	ENSP00000306688:G253C	ENSP00000306688:G253C	G	+	1	0	OR2M4	246469610	0.170000	0.23016	0.724000	0.30704	0.961000	0.63080	2.124000	0.42006	1.840000	0.53500	0.543000	0.68304	GGT	OR2M4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171180		0.537	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1		0.00	43	0	G	NM_017504		248402987	+1			no_errors	ENST00000306687	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.373	T
OR2T10	127069	genome.wustl.edu	37	1	248756465	248756465	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:248756465C>A	ENST00000330500.2	-	1	635	c.605G>T	c.(604-606)tGc>tTc	p.C202F	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGACACAGCACAAGTACAT	0.443																																																	0													82.0	85.0	84.0					1																	248756465		2050	4239	6289	SO:0001583	missense	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.605G>T	1.37:g.248756465C>A	ENSP00000329210:p.Cys202Phe		B2RNK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C202F	ENST00000330500.2	37	c.605	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	5.805	0.332774	0.11013	.	.	ENSG00000184022	ENST00000330500	T	0.00027	8.93	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.26162	0.8	0.09310	N	1	D	0.67145	0.996	D	0.70487	0.969	T	0.58261	-0.7667	9	0.72032	D	0.01	.	7.4839	0.27421	0.2578:0.7422:0.0:0.0	.	202	Q8NGZ9	O2T10_HUMAN	F	202	ENSP00000329210:C202F	ENSP00000329210:C202F	C	-	2	0	OR2T10	246823088	0.000000	0.05858	0.133000	0.22050	0.239000	0.25481	-0.447000	0.06828	1.123000	0.41961	0.447000	0.29281	TGC	OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184022		0.443	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1		0.00	35	0	C	NM_001004693		248756465	-1			no_errors	ENST00000330500	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.005	A
OR51G2	81282	genome.wustl.edu	37	11	4936308	4936308	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:4936308C>T	ENST00000322013.3	-	1	614	c.586G>A	c.(586-588)Gac>Aac	p.D196N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCATGTCGGCACAGGCC	0.468																																																	0													120.0	103.0	109.0					11																	4936308		2201	4298	6499	SO:0001583	missense	0			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.586G>A	11.37:g.4936308C>T	ENSP00000322593:p.Asp196Asn		Q6IFH7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D196N	ENST00000322013.3	37	c.586	CCDS31365.1	11	.	.	.	.	.	.	.	.	.	.	C	8.299	0.819593	0.16607	.	.	ENSG00000176893	ENST00000322013	T	0.00231	8.49	5.58	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.117449	0.38005	N	0.001854	T	0.00300	0.0009	L	0.31804	0.96	0.27066	N	0.963434	D	0.69078	0.997	P	0.57101	0.813	T	0.63563	-0.6609	10	0.54805	T	0.06	.	16.4504	0.83984	0.0:0.9299:0.0:0.0701	.	196	Q8NGK0	O51G2_HUMAN	N	196	ENSP00000322593:D196N	ENSP00000322593:D196N	D	-	1	0	OR51G2	4892884	0.131000	0.22433	0.998000	0.56505	0.064000	0.16182	0.583000	0.23849	0.928000	0.37168	-0.797000	0.03246	GAC	OR51G2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176893		0.468	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	-	0.00	16	0	C	NM_001005238		4936308	-1	tier1	-	no_errors	ENST00000322013	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.966	T
OR5A2	219981	genome.wustl.edu	37	11	59189983	59189983	+	Silent	SNP	G	G	T	rs141672631	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:59189983G>T	ENST00000302040.4	-	1	466	c.444C>A	c.(442-444)ggC>ggA	p.G148G		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCACATAGGCGCCAACCACCA	0.453																																																	0													81.0	77.0	79.0					11																	59189983		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.444C>A	11.37:g.59189983G>T			B9EH21|Q6IFF4|Q96RB0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G148	ENST00000302040.4	37	c.444	CCDS31560.1	11																																																																																			OR5A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172324		0.453	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A2	HGNC	protein_coding	OTTHUMT00000394552.1		0.00	47	0	G	NM_001001954		59189983	-1			no_errors	ENST00000302040	ensembl	human	known	74_37	silent	7.32	38	3	SNP	0.000	T
OTOP1	133060	genome.wustl.edu	37	4	4199591	4199591	+	Missense_Mutation	SNP	C	C	T	rs200213513		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:4199591C>T	ENST00000296358.4	-	5	994	c.970G>A	c.(970-972)Gcc>Acc	p.A324T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	324					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A324T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAATGGTGGCGGCCAGCACG	0.562																																																	1	Substitution - Missense(1)	endometrium(1)											50.0	47.0	48.0					4																	4199591		2203	4300	6503	SO:0001583	missense	0			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.970G>A	4.37:g.4199591C>T	ENSP00000296358:p.Ala324Thr		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.A324T	ENST00000296358.4	37	c.970	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	C	3.487	-0.104656	0.06967	.	.	ENSG00000163982	ENST00000296358	T	0.22336	1.96	4.8	0.0368	0.14193	.	0.451861	0.24007	N	0.042416	T	0.09818	0.0241	N	0.24115	0.695	0.33462	D	0.58506	B	0.26041	0.14	B	0.22601	0.04	T	0.16512	-1.0400	10	0.24483	T	0.36	.	3.7806	0.08679	0.1776:0.2734:0.0:0.549	.	324	Q7RTM1	OTOP1_HUMAN	T	324	ENSP00000296358:A324T	ENSP00000296358:A324T	A	-	1	0	OTOP1	4250492	0.655000	0.27376	0.739000	0.30968	0.066000	0.16364	0.996000	0.29719	0.358000	0.24211	0.404000	0.27445	GCC	OTOP1	-	pfam_Otopetrin	ENSG00000163982		0.562	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	-	0.00	30	0	C	NM_177998		4199591	-1	tier1	rs200213513	no_errors	ENST00000296358	ensembl	human	known	74_37	missense	41.82	32	23	SNP	0.526	T
PAN3	255967	genome.wustl.edu	37	13	28830500	28830502	+	In_Frame_Del	DEL	AGA	AGA	-	rs139494056		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr13:28830500_28830502delAGA	ENST00000380958.3	+	7	1224_1226	c.1072_1074delAGA	c.(1072-1074)agadel	p.R360del	PAN3_ENST00000399613.1_In_Frame_Del_p.R160del|PAN3_ENST00000282391.5_In_Frame_Del_p.R48del|PAN3_ENST00000483842.1_3'UTR	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCCTGCTCCCAGAAGAAGAAGTC	0.443																																																	0																																										SO:0001651	inframe_deletion	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1072_1074delAGA	13.37:g.28830506_28830508delAGA	ENSP00000370345:p.Arg360del			In_Frame_Del	DEL	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.R360in_frame_del	ENST00000380958.3	37	c.1072_1074	CCDS9329.2	13																																																																																			PAN3	-	NULL	ENSG00000152520		0.443	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4		0.00	108	0	AGA	NM_175854		28830502	+1	tier1		no_errors	ENST00000380958	ensembl	human	known	74_37	in_frame_del	24.72	67	22	DEL	1.000:1.000:1.000	-
PAPD4	167153	genome.wustl.edu	37	5	78981027	78981027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:78981027G>A	ENST00000296783.3	+	16	1685	c.1386G>A	c.(1384-1386)tgG>tgA	p.W462*	PAPD4_ENST00000428308.2_Nonsense_Mutation_p.W462*|PAPD4_ENST00000453514.1_Nonsense_Mutation_p.W462*|PAPD4_ENST00000504233.1_Nonsense_Mutation_p.W419*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.W458*			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	462					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.W462*(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCCAGTCATGGCACAGATTGA	0.333																																																	1	Substitution - Nonsense(1)	endometrium(1)											72.0	78.0	76.0					5																	78981027		2203	4299	6502	SO:0001587	stop_gained	0			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1386G>A	5.37:g.78981027G>A	ENSP00000296783:p.Trp462*		Q86WZ2|Q8N927	Nonsense_Mutation	SNP	pfam_PAP_assoc	p.W462*	ENST00000296783.3	37	c.1386	CCDS4048.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.220976	0.98143	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	.	.	.	5.85	4.96	0.65561	.	0.448938	0.27371	N	0.019670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.0249	14.5017	0.67727	0.0:0.0:0.8531:0.1469	.	.	.	.	X	462;458;419;462;462	.	ENSP00000296783:W462X	W	+	3	0	PAPD4	79016783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.246000	0.65411	1.435000	0.47434	0.563000	0.77884	TGG	PAPD4	-	NULL	ENSG00000164329		0.333	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	HGNC	protein_coding	OTTHUMT00000226967.1		0.00	54	0	G	NM_173797		78981027	+1			no_errors	ENST00000296783	ensembl	human	known	74_37	nonsense	5.66	50	3	SNP	1.000	A
PAQR8	85315	genome.wustl.edu	37	6	52268714	52268714	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:52268714T>G	ENST00000442253.2	+	2	877	c.703T>G	c.(703-705)Tgt>Ggt	p.C235G	PAQR8_ENST00000360726.3_Missense_Mutation_p.C235G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	235					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGTGGCGCTCTGTCACCTGGC	0.577																																																	0													89.0	85.0	86.0					6																	52268714		2203	4300	6503	SO:0001583	missense	0			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.703T>G	6.37:g.52268714T>G	ENSP00000406197:p.Cys235Gly		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	pfam_HlyIII-related,superfamily_C-type_lectin_fold	p.C235G	ENST00000442253.2	37	c.703	CCDS4941.1	6	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617785	0.46736	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.29917	1.55;1.55	5.54	5.54	0.83059	.	0.055760	0.64402	D	0.000001	T	0.32010	0.0815	M	0.77313	2.365	0.49213	D	0.999768	P	0.39624	0.681	P	0.45232	0.474	T	0.11036	-1.0604	9	.	.	.	-10.4064	14.8592	0.70366	0.0:0.0:0.0:1.0	.	235	Q8TEZ7	MPRB_HUMAN	G	235	ENSP00000406197:C235G;ENSP00000353953:C235G	.	C	+	1	0	PAQR8	52376673	0.978000	0.34361	0.979000	0.43373	0.992000	0.81027	1.941000	0.40233	2.109000	0.64355	0.533000	0.62120	TGT	PAQR8	-	pfam_HlyIII-related	ENSG00000170915		0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR8	HGNC	protein_coding	OTTHUMT00000040903.2	-	0.00	22	0	T	NM_133367		52268714	+1	tier1	-	no_errors	ENST00000360726	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	G
PARD3	56288	genome.wustl.edu	37	10	34805981	34805981	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:34805981G>T	ENST00000374789.3	-	3	654	c.329C>A	c.(328-330)aCc>aAc	p.T110N	PARD3_ENST00000374776.1_Missense_Mutation_p.T110N|PARD3_ENST00000374788.3_Missense_Mutation_p.T110N|PARD3_ENST00000340077.5_Missense_Mutation_p.T110N|PARD3_ENST00000374773.1_Missense_Mutation_p.T110N|PARD3_ENST00000545693.1_Missense_Mutation_p.T110N|PARD3_ENST00000346874.4_Missense_Mutation_p.T110N|PARD3_ENST00000545260.1_Missense_Mutation_p.T110N|PARD3_ENST00000350537.4_Missense_Mutation_p.T110N|PARD3_ENST00000374794.3_Missense_Mutation_p.T110N|PARD3_ENST00000374790.3_Missense_Mutation_p.T110N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	110					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GACATTGTTGGTGCCAAGCTC	0.498																																																	0													149.0	129.0	136.0					10																	34805981		2203	4300	6503	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.329C>A	10.37:g.34805981G>T	ENSP00000363921:p.Thr110Asn		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T110N	ENST00000374789.3	37	c.329	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081781	0.36758	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.93	5.93	0.95920	.	0.468437	0.25564	N	0.029816	T	0.49406	0.1555	L	0.39898	1.24	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.34147	0.234;0.161;0.141;0.234;0.141;0.234;0.234;0.146;0.146;0.438;0.438	B;B;B;B;B;B;B;B;B;B;B	0.39339	0.255;0.079;0.156;0.255;0.197;0.255;0.255;0.219;0.297;0.255;0.255	T	0.47674	-0.9099	10	0.62326	D	0.03	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	110;110;110;110;110;110;110;110;110;110;110	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	N	110	ENSP00000443147:T110N;ENSP00000440857:T110N;ENSP00000363921:T110N;ENSP00000363920:T110N;ENSP00000340591:T110N;ENSP00000363926:T110N;ENSP00000311986:T110N;ENSP00000363922:T110N;ENSP00000363908:T110N;ENSP00000341844:T110N;ENSP00000363905:T110N	ENSP00000341844:T110N	T	-	2	0	PARD3	34845987	1.000000	0.71417	0.706000	0.30403	0.206000	0.24218	7.996000	0.88334	2.798000	0.96311	0.655000	0.94253	ACC	PARD3	-	pfam_DUF3534	ENSG00000148498		0.498	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1		0.00	78	0	G	NM_019619		34805981	-1			no_errors	ENST00000374789	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.991	T
PARP10	84875	genome.wustl.edu	37	8	145059488	145059488	+	Nonsense_Mutation	SNP	G	G	A	rs372202325		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:145059488G>A	ENST00000313028.7	-	5	776	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PARP10_ENST00000524918.1_Nonsense_Mutation_p.R228*|PARP10_ENST00000525773.1_Nonsense_Mutation_p.R240*|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	228					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			tgcaacactcgttctgccact	0.612																																																	0									stop/ARG	0,4404		0,0,2202	21.0	24.0	23.0		682	2.1	0.6	8		23	1,8597		0,1,4298	no	stop-gained	PARP10	NM_032789.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		228/1026	145059488	1,13001	2202	4299	6501	SO:0001587	stop_gained	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.682C>T	8.37:g.145059488G>A	ENSP00000325618:p.Arg228*		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R228*	ENST00000313028.7	37	c.682	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580652	0.65992	0.0	1.16E-4	ENSG00000178685	ENST00000524918;ENST00000313028;ENST00000525773;ENST00000313059	.	.	.	3.92	2.08	0.27032	.	0.000000	0.40818	N	0.001017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4033	0.16308	0.1173:0.2063:0.6764:0.0	.	.	.	.	X	228;228;240;143	.	ENSP00000325618:R228X	R	-	1	2	PARP10	145131476	0.000000	0.05858	0.593000	0.28771	0.255000	0.26057	0.514000	0.22786	0.176000	0.19873	0.450000	0.29827	CGA	PARP10	-	NULL	ENSG00000178685		0.612	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	-	0.00	66	0	G	NM_032789		145059488	-1	tier1	-	no_errors	ENST00000313028	ensembl	human	known	74_37	nonsense	36.21	37	21	SNP	0.977	A
PATL1	219988	genome.wustl.edu	37	11	59423080	59423080	+	Missense_Mutation	SNP	C	C	T	rs566436701		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:59423080C>T	ENST00000300146.9	-	8	1031	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	316	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AAAGAAGGCACGGAAGCCTGG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16010	0.0		0.001	False		,,,				2504	0.0																0													60.0	63.0	62.0					11																	59423080		1988	4152	6140	SO:0001583	missense	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.947G>A	11.37:g.59423080C>T	ENSP00000300146:p.Arg316His		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.R316H	ENST00000300146.9	37	c.947	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296262	0.60086	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.47528	0.84	4.86	4.86	0.63082	.	0.049415	0.85682	D	0.000000	T	0.61800	0.2376	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.936;0.98	T	0.57636	-0.7777	10	0.30854	T	0.27	-10.4275	17.9405	0.89025	0.0:1.0:0.0:0.0	.	286;316	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	H	316;286	ENSP00000300146:R316H	ENSP00000300146:R316H	R	-	2	0	PATL1	59179656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.398000	0.81561	0.563000	0.77884	CGT	PATL1	-	pfam_Topo_II-assoc_PAT1	ENSG00000166889		0.572	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	-	0.00	93	0	C	NM_152716		59423080	-1	tier1	-	no_errors	ENST00000300146	ensembl	human	known	74_37	missense	41.11	53	37	SNP	1.000	T
PAXIP1	22976	genome.wustl.edu	37	7	154774989	154774989	+	Silent	SNP	T	T	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:154774989T>A	ENST00000404141.1	-	5	532	c.378A>T	c.(376-378)ggA>ggT	p.G126G	PAXIP1_ENST00000397192.1_Silent_p.G126G|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	126	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCTGGCAATCTCCCCCATAGA	0.433																																																	0													56.0	54.0	55.0					7																	154774989		1876	4116	5992	SO:0001819	synonymous_variant	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.378A>T	7.37:g.154774989T>A			O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.G126	ENST00000404141.1	37	c.378	CCDS47753.1	7																																																																																			PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.433	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	-	0.00	97	0	T	NM_007349		154774989	-1	tier1	-	no_errors	ENST00000397192	ensembl	human	known	74_37	silent	20.75	84	22	SNP	0.033	A
PCDHB18	54660	genome.wustl.edu	37	5	140616411	140616411	+	RNA	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:140616411A>G	ENST00000526308.1	+	0	2474					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TCAGGGGCAAATGAGTTCAAG	0.567																																																	0																																												0			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616411A>G			B3KTF8	RNA	SNP	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-	ENSG00000146001		0.567	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	-	0.00	98	0	A			140616411	+1	tier1	-	no_errors	ENST00000526308	ensembl	human	known	74_37	rna	36.67	76	44	SNP	0.005	G
PCDH12	51294	genome.wustl.edu	37	5	141324997	141324997	+	Silent	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:141324997C>A	ENST00000231484.3	-	4	4714	c.3504G>T	c.(3502-3504)acG>acT	p.T1168T		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1168					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCAGTCCCCGTCTTTCCAC	0.622																																																	0													22.0	21.0	21.0					5																	141324997		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3504G>T	5.37:g.141324997C>A			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T1168	ENST00000231484.3	37	c.3504	CCDS4269.1	5																																																																																			PCDH12	-	NULL	ENSG00000113555		0.622	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	-	0.00	33	0	C	NM_016580		141324997	-1	tier1	-	no_errors	ENST00000231484	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.014	A
PCLO	27445	genome.wustl.edu	37	7	82584500	82584500	+	Silent	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:82584500A>G	ENST00000333891.9	-	5	6106	c.5769T>C	c.(5767-5769)caT>caC	p.H1923H	PCLO_ENST00000423517.2_Silent_p.H1923H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGTGTTTTATGCATCATTT	0.358																																																	0													57.0	55.0	55.0					7																	82584500		1870	4097	5967	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5769T>C	7.37:g.82584500A>G				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.H1923	ENST00000333891.9	37	c.5769	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	42	0	A	NM_014510		82584500	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	25.77	72	25	SNP	0.339	G
PDCD11	22984	genome.wustl.edu	37	10	105179338	105179338	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:105179338G>A	ENST00000369797.3	+	16	2244	c.2150G>A	c.(2149-2151)gGc>gAc	p.G717D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	717					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTAGAAGGTGGCCAGGATCCC	0.483																																																	0													156.0	142.0	147.0					10																	105179338		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2150G>A	10.37:g.105179338G>A	ENSP00000358812:p.Gly717Asp		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.G717D	ENST00000369797.3	37	c.2150	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909708	0.52439	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10668	2.85	5.5	4.59	0.56863	.	0.095026	0.64402	N	0.000001	T	0.10981	0.0268	L	0.57536	1.79	0.58432	D	0.999998	B	0.13145	0.007	B	0.15484	0.013	T	0.09250	-1.0683	10	0.14656	T	0.56	-11.3843	9.3862	0.38345	0.2082:0.0:0.7918:0.0	.	717	Q14690	RRP5_HUMAN	D	717	ENSP00000358812:G717D	ENSP00000358812:G717D	G	+	2	0	PDCD11	105169328	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.064000	0.57506	1.303000	0.44873	0.462000	0.41574	GGC	PDCD11	-	NULL	ENSG00000148843		0.483	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0.00	56	0	G			105179338	+1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
PDIA3	2923	genome.wustl.edu	37	15	44038854	44038854	+	Silent	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:44038854C>T	ENST00000300289.5	+	1	265	c.117C>T	c.(115-117)atC>atT	p.I39I	CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	39	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGAGTCGCATCTCCGACACGG	0.682																																																	0													34.0	33.0	33.0					15																	44038854		2156	4246	6402	SO:0001819	synonymous_variant	0				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.117C>T	15.37:g.44038854C>T			Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.I39	ENST00000300289.5	37	c.117	CCDS10101.1	15																																																																																			PDIA3	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000167004		0.682	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA3	HGNC	protein_coding	OTTHUMT00000103532.3	-	0.00	61	0	C	NM_005313		44038854	+1	tier1	-	no_errors	ENST00000300289	ensembl	human	known	74_37	silent	26.39	53	19	SNP	0.998	T
PEX16	9409	genome.wustl.edu	37	11	45935479	45935479	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:45935479G>A	ENST00000378750.5	-	9	1021	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	PEX16_ENST00000241041.3_Silent_p.L260L|PEX16_ENST00000532554.1_5'Flank|PEX16_ENST00000532681.1_Silent_p.L165L			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	260	Interaction with PEX19.				ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTGTCACTCAGGAGGCTCAGG	0.667																																																	0													35.0	36.0	36.0					11																	45935479		2203	4298	6501	SO:0001819	synonymous_variant	0			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.778C>T	11.37:g.45935479G>A			Q9BWB9	Silent	SNP	pfam_Pex16	p.L260	ENST00000378750.5	37	c.778	CCDS31472.1	11																																																																																			PEX16	-	pfam_Pex16	ENSG00000121680		0.667	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX16	HGNC	protein_coding	OTTHUMT00000392398.1	-	0.00	81	0	G	NM_057174		45935479	-1	tier1	-	no_errors	ENST00000241041	ensembl	human	known	74_37	silent	34.07	60	31	SNP	1.000	A
PFKFB4	5210	genome.wustl.edu	37	3	48561150	48561150	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:48561150G>T	ENST00000232375.3	-	11	1318	c.1206C>A	c.(1204-1206)ttC>ttA	p.F402L	PFKFB4_ENST00000536104.1_Missense_Mutation_p.F391L|PFKFB4_ENST00000383734.2_Missense_Mutation_p.F367L|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.F395L|PFKFB4_ENST00000541519.1_Missense_Mutation_p.F368L	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	402	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCTTGTCGAGGAAGTAGGCCA	0.597																																																	0													99.0	87.0	91.0					3																	48561150		2203	4300	6503	SO:0001583	missense	0			BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1206C>A	3.37:g.48561150G>T	ENSP00000232375:p.Phe402Leu		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.F402L	ENST00000232375.3	37	c.1206	CCDS2771.1	3	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394917	0.62066	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519	.	.	.	4.6	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.71674	0.995;0.982;0.998;0.994	P;D;D;P	0.74674	0.78;0.952;0.984;0.843	T	0.72584	-0.4249	9	0.87932	D	0	-4.8054	7.8113	0.29232	0.2245:0.0:0.7755:0.0	.	391;367;395;402	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	L	402;391;395;367;368	.	ENSP00000232375:F402L	F	-	3	2	PFKFB4	48536154	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.244000	0.51399	1.140000	0.42260	0.563000	0.77884	TTC	PFKFB4	-	pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000114268		0.597	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB4	HGNC	protein_coding	OTTHUMT00000257503.2	-	0.00	42	0	G	NM_004567		48561150	-1	tier1	-	no_errors	ENST00000232375	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T
PIFO	128344	genome.wustl.edu	37	1	111892705	111892705	+	Intron	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:111892705G>T	ENST00000369738.4	+	5	754				PIFO_ENST00000369737.4_Intron|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation						cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										CATTAGACATGATGCTTGTAT	0.453																																																	0													64.0	69.0	67.0					1																	111892705		2203	4300	6503	SO:0001627	intron_variant	0			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.390-23G>T	1.37:g.111892705G>T			D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	RNA	SNP	-	NULL	ENST00000369738.4	37	NULL	CCDS833.1	1																																																																																			PIFO	-	-	ENSG00000173947		0.453	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIFO	HGNC	protein_coding	OTTHUMT00000030718.1	-	0.00	64	0	G	NM_181643		111892705	+1	tier1	-	no_errors	ENST00000484512	ensembl	human	known	74_37	rna	12.50	56	8	SNP	0.002	T
PIK3C2B	5287	genome.wustl.edu	37	1	204438822	204438822	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:204438822G>C	ENST00000367187.3	-	3	665	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L37V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	37	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGCCGGGACAGGGCATCATAC	0.582																																																	0													71.0	60.0	64.0					1																	204438822		2203	4300	6503	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.109C>G	1.37:g.204438822G>C	ENSP00000356155:p.Leu37Val		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L37V	ENST00000367187.3	37	c.109	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756939	0.49362	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000415899;ENST00000429009	T;T	0.71103	-0.32;-0.54	5.22	4.29	0.51040	.	0.000000	0.43416	D	0.000571	T	0.71804	0.3383	N	0.19112	0.55	0.32867	D	0.50873	D;D	0.67145	0.996;0.993	D;D	0.80764	0.994;0.987	T	0.78526	-0.2170	10	0.72032	D	0.01	.	10.8071	0.46524	0.0928:0.0:0.9072:0.0	.	37;37	F5GWN5;O00750	.;P3C2B_HUMAN	V	37	ENSP00000356155:L37V;ENSP00000400561:L37V	ENSP00000356155:L37V	L	-	1	2	PIK3C2B	202705445	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	3.760000	0.55235	1.150000	0.42419	0.455000	0.32223	CTG	PIK3C2B	-	NULL	ENSG00000133056		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0.00	77	0	G	NM_002646		204438822	-1	tier1	-	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	42.19	37	27	SNP	1.000	C
PIK3C3	5289	genome.wustl.edu	37	18	39550410	39550410	+	Missense_Mutation	SNP	G	G	A	rs376188539		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr18:39550410G>A	ENST00000262039.4	+	4	607	c.521G>A	c.(520-522)cGt>cAt	p.R174H	PIK3C3_ENST00000586545.1_Missense_Mutation_p.R174H|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R111H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	174	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R174H(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGATGAGCCGTCTTGCCAAG	0.408										TSP Lung(28;0.18)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		15988	0.0		0.0	False		,,,				2504	0.0				NSCLC(37;552 1060 2683 16430 37914)												1	Substitution - Missense(1)	cervix(1)						G	HIS/ARG	0,4406		0,0,2203	77.0	70.0	72.0		521	4.6	1.0	18		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C3	NM_002647.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	174/888	39550410	1,13005	2203	4300	6503	SO:0001583	missense	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.521G>A	18.37:g.39550410G>A	ENSP00000262039:p.Arg174His		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.R174H	ENST00000262039.4	37	c.521	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834693	0.91036	0.0	1.16E-4	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.79352	-1.26;-1.26	4.61	4.61	0.57282	Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.91818	3.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.969	D	0.92663	0.6143	9	.	.	.	.	17.8031	0.88593	0.0:0.0:1.0:0.0	.	111;174	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	H	174;111	ENSP00000262039:R174H;ENSP00000381845:R111H	.	R	+	2	0	PIK3C3	37804408	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.775000	0.98995	2.257000	0.74773	0.557000	0.71058	CGT	PIK3C3	-	pfam_PI3K_C2_dom,pirsf_PI3K_Vps34	ENSG00000078142		0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	-	0.00	39	0	G	NM_002647		39550410	+1	tier1	-	no_errors	ENST00000262039	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	63	0	G			178936091	+1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	30.68	61	27	SNP	1.000	A
PIP	5304	genome.wustl.edu	37	7	142832382	142832382	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:142832382A>G	ENST00000291009.3	+	2	231	c.191A>G	c.(190-192)gAa>gGa	p.E64G		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	64					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GAATTGAAAGAATGCATGGTG	0.368																																																	0													56.0	50.0	52.0					7																	142832382		2203	4299	6502	SO:0001583	missense	0				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.191A>G	7.37:g.142832382A>G	ENSP00000291009:p.Glu64Gly		A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	pfam_SV_autoAg,pirsf_SV_autoAg	p.E64G	ENST00000291009.3	37	c.191	CCDS34768.1	7	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296363	0.40594	.	.	ENSG00000159763	ENST00000291009	T	0.17054	2.3	4.55	4.55	0.56014	.	0.000000	0.56097	D	0.000024	T	0.38506	0.1043	M	0.72894	2.215	0.34271	D	0.681063	D	0.89917	1.0	D	0.91635	0.999	T	0.55296	-0.8163	10	0.87932	D	0	.	10.4596	0.44572	1.0:0.0:0.0:0.0	.	64	P12273	PIP_HUMAN	G	64	ENSP00000291009:E64G	ENSP00000291009:E64G	E	+	2	0	PIP	142542504	1.000000	0.71417	0.834000	0.33040	0.044000	0.14063	3.829000	0.55760	2.049000	0.60858	0.528000	0.53228	GAA	PIP	-	pfam_SV_autoAg,pirsf_SV_autoAg	ENSG00000159763		0.368	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	HGNC	protein_coding	OTTHUMT00000327089.1	-	0.00	53	0	A	NM_002652		142832382	+1	tier1	-	no_errors	ENST00000291009	ensembl	human	known	74_37	missense	49.38	41	40	SNP	0.965	G
PLTP	5360	genome.wustl.edu	37	20	44528111	44528111	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:44528111G>A	ENST00000477313.1	-	14	1943	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	PLTP_ENST00000420868.2_Missense_Mutation_p.T355M|PLTP_ENST00000372420.1_Missense_Mutation_p.T362M|PLTP_ENST00000542937.1_Missense_Mutation_p.T470M|PLTP_ENST00000354050.4_Missense_Mutation_p.T398M|PLTP_ENST00000372431.3_Missense_Mutation_p.T450M			P55058	PLTP_HUMAN	phospholipid transfer protein	450					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CGCATGGTTCGTCACCACCTC	0.647																																																	0													103.0	81.0	88.0					20																	44528111		2203	4300	6503	SO:0001583	missense	0			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1349C>T	20.37:g.44528111G>A	ENSP00000417138:p.Thr450Met		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.T470M	ENST00000477313.1	37	c.1409	CCDS13386.1	20	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851113	0.51270	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92	5.12	2.03	0.26663	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.382534	0.32357	N	0.006213	T	0.21921	0.0528	L	0.51422	1.61	0.34029	D	0.653641	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	0.73380	0.98;0.973;0.973;0.959;0.973;0.973	T	0.15093	-1.0449	10	0.52906	T	0.07	-11.192	8.4707	0.32984	0.0725:0.0:0.6522:0.2753	.	355;362;450;398;450;470	E7EV16;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	M	362;450;398;450;470;355	ENSP00000361497:T362M;ENSP00000361508:T450M;ENSP00000335290:T398M;ENSP00000417138:T450M;ENSP00000440296:T470M;ENSP00000411671:T355M	ENSP00000335290:T398M	T	-	2	0	PLTP	43961518	0.558000	0.26554	0.476000	0.27291	0.835000	0.47333	0.738000	0.26158	0.302000	0.22762	0.544000	0.68410	ACG	PLTP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000100979		0.647	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	-	0.00	48	0	G	NM_006227		44528111	-1	tier1	-	no_errors	ENST00000542937	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.721	A
PLVAP	83483	genome.wustl.edu	37	19	17476376	17476376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:17476376C>A	ENST00000252590.4	-	3	959	c.898G>T	c.(898-900)Gag>Tag	p.E300*	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	300					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTGAGTTCTCGCGGGCCACG	0.667																																																	0													34.0	32.0	32.0					19																	17476376		2203	4300	6503	SO:0001587	stop_gained	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.898G>T	19.37:g.17476376C>A	ENSP00000252590:p.Glu300*		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Nonsense_Mutation	SNP	pfam_PV-1	p.E300*	ENST00000252590.4	37	c.898	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.055590	0.97241	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.41	5.41	0.78517	.	0.245531	0.40818	N	0.001003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-47.9196	14.6838	0.69035	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000252590:E300X	E	-	1	0	PLVAP	17337376	0.988000	0.35896	0.815000	0.32552	0.722000	0.41435	3.628000	0.54259	2.541000	0.85698	0.455000	0.32223	GAG	PLVAP	-	pfam_PV-1	ENSG00000130300		0.667	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	-	0.00	37	0	C	NM_031310		17476376	-1	tier1	-	no_errors	ENST00000252590	ensembl	human	known	74_37	nonsense	28.57	40	16	SNP	0.978	A
PLXDC1	57125	genome.wustl.edu	37	17	37288020	37288020	+	Intron	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:37288020G>T	ENST00000315392.4	-	2	467				PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Intron|PLXDC1_ENST00000539608.1_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1						angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCGTTCCCTTGAGCACCCTGG	0.597																																																	0																																										SO:0001627	intron_variant	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.255+7886C>A	17.37:g.37288020G>T			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	RNA	SNP	-	NULL	ENST00000315392.4	37	NULL	CCDS11333.1	17																																																																																			PLXDC1	-	-	ENSG00000161381		0.597	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	-	0.00	73	0	G	NM_020405		37288020	-1	tier1	-	no_errors	ENST00000493200	ensembl	human	known	74_37	rna	60.47	34	52	SNP	0.000	T
POLR1C	9533	genome.wustl.edu	37	6	43487822	43487825	+	Frame_Shift_Del	DEL	AGAT	AGAT	-	rs371870708		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGAT	AGAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:43487822_43487825delAGAT	ENST00000372389.3	+	5	489_492	c.401_404delAGAT	c.(400-405)gagatafs	p.EI134fs	POLR1C_ENST00000304004.3_Frame_Shift_Del_p.EI134fs|POLR1C_ENST00000372344.2_Frame_Shift_Del_p.EI134fs|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	134					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GAAGGCACAGAGATAGATACTCTA	0.48																																																	0																																										SO:0001589	frameshift_variant	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.401_404delAGAT	6.37:g.43487826_43487829delAGAT	ENSP00000361465:p.Glu134fs		O75395|Q5JTE3	Frame_Shift_Del	DEL	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.D136fs	ENST00000372389.3	37	c.401_404	CCDS4901.1	6																																																																																			POLR1C	-	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.480	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3		0.00	62	0	AGAT	NM_004875		43487825	+1	tier1		no_errors	ENST00000372389	ensembl	human	known	74_37	frame_shift_del	26.87	49	18	DEL	1.000:0.999:1.000:1.000	-
PNLDC1	154197	genome.wustl.edu	37	6	160225082	160225082	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:160225082G>T	ENST00000610273.1	+	5	472	c.301G>T	c.(301-303)Gtt>Ttt	p.V101F	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.V112F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	101						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGCTTCCAGTGTTCAGTTTTT	0.403																																																	0													150.0	154.0	152.0					6																	160225082		2203	4300	6503	SO:0001583	missense	0			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.301G>T	6.37:g.160225082G>T	ENSP00000476448:p.Val101Phe		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.V101F	ENST00000610273.1	37	c.301	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	G	15.78	2.932986	0.52866	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.26067	1.76;1.76	5.61	2.49	0.30216	Ribonuclease H-like (1);	0.102938	0.41712	D	0.000839	T	0.11410	0.0278	L	0.39147	1.195	0.39053	D	0.960379	P;B	0.49090	0.919;0.316	P;B	0.46275	0.51;0.235	T	0.03875	-1.0996	10	0.59425	D	0.04	.	5.1254	0.14882	0.445:0.0:0.555:0.0	.	112;101	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	101;112	ENSP00000275275:V101F;ENSP00000376007:V112F	ENSP00000275275:V101F	V	+	1	0	PNLDC1	160145072	1.000000	0.71417	0.952000	0.39060	0.998000	0.95712	3.237000	0.51344	0.743000	0.32719	0.655000	0.94253	GTT	PNLDC1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000146453		0.403	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		-	0.00	63	0	G	NM_173516		160225082	+1	tier1	-	no_errors	ENST00000610273	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.998	T
POU4F1	5457	genome.wustl.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)												1	Deletion - In frame(1)	central_nervous_system(1)																																								SO:0001651	inframe_deletion	0			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.H108in_frame_del	ENST00000377208.5	37	c.326_324	CCDS31996.1	13																																																																																			POU4F1	-	NULL	ENSG00000152192		0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F1	HGNC	protein_coding	OTTHUMT00000045360.3		0.00	9	0	TGG			79176486	-1	tier1		no_errors	ENST00000377208	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	1.000:1.000:1.000	-
POU4F2	5458	genome.wustl.edu	37	4	147560493	147560493	+	Silent	SNP	A	A	C	rs532126509	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:147560493A>C	ENST00000281321.3	+	1	449	c.201A>C	c.(199-201)ggA>ggC	p.G67G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	67	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					gcggcggcggaggccgaagca	0.751													A|||	33	0.00658946	0.0091	0.0029	5008	,	,		8557	0.0079		0.001	False		,,,				2504	0.0102																0													5.0	7.0	7.0					4																	147560493		1859	3721	5580	SO:0001819	synonymous_variant	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.201A>C	4.37:g.147560493A>C			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.G67	ENST00000281321.3	37	c.201	CCDS34074.1	4																																																																																			POU4F2	-	NULL	ENSG00000151615		0.751	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1		0.00	32	0	A	NM_004575		147560493	+1			no_errors	ENST00000281321	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.938	C
PPP1R9A	55607	genome.wustl.edu	37	7	94855331	94855331	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:94855331G>T	ENST00000433881.1	+	7	2481	c.1949G>T	c.(1948-1950)aGc>aTc	p.S650I	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S672I|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.S650I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S650I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S650I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S650I			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	650	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTCCTGGCAGCGACATGGCC	0.483										HNSCC(28;0.073)																																							0													135.0	111.0	119.0					7																	94855331		2203	4300	6503	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1949G>T	7.37:g.94855331G>T	ENSP00000398870:p.Ser650Ile		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.S650I	ENST00000433881.1	37	c.1949	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907748	0.52333	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16073	2.37;2.45;2.42;2.45;2.44;2.42	5.12	5.12	0.69794	.	0.566233	0.21211	N	0.078301	T	0.14141	0.0342	N	0.14661	0.345	0.32182	N	0.580249	B;P;B;B;B	0.39094	0.158;0.659;0.051;0.412;0.133	B;B;B;B;B	0.42030	0.065;0.373;0.022;0.084;0.069	T	0.04767	-1.0928	10	0.18276	T	0.48	.	19.1381	0.93436	0.0:0.0:1.0:0.0	.	650;650;672;650;650	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	I	672;650;650;650;650;650	ENSP00000405514:S672I;ENSP00000344524:S650I;ENSP00000411342:S650I;ENSP00000398870:S650I;ENSP00000289495:S650I;ENSP00000402893:S650I	ENSP00000289495:S650I	S	+	2	0	PPP1R9A	94693267	1.000000	0.71417	0.823000	0.32752	0.110000	0.19582	5.820000	0.69250	2.836000	0.97738	0.655000	0.94253	AGC	PPP1R9A	-	NULL	ENSG00000158528		0.483	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	-	0.00	40	0	G	NM_001166160		94855331	+1	tier1	-	no_errors	ENST00000289495	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.801	T
PRB3	5544	genome.wustl.edu	37	12	11420862	11420862	+	Silent	SNP	T	T	G	rs201524640		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:11420862T>G	ENST00000279573.7	-	3	456	c.321A>C	c.(319-321)ggA>ggC	p.G107G	PRB3_ENST00000381842.3_Silent_p.G107G|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Silent_p.G107G			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632																																																	0																																										SO:0001819	synonymous_variant	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.321A>C	12.37:g.11420862T>G			Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Silent	SNP	NULL	p.G107	ENST00000279573.7	37	c.321		12																																																																																			PRB3	-	NULL	ENSG00000197870		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5		0.00	50	0	T	NM_006249		11420862	-1			no_errors	ENST00000381842	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.001	G
PRDM8	56978	genome.wustl.edu	37	4	81122551	81122551	+	Silent	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:81122551C>T	ENST00000504452.1	+	7	1166	c.327C>T	c.(325-327)aaC>aaT	p.N109N	PRDM8_ENST00000339711.4_Silent_p.N109N|PRDM8_ENST00000415738.2_Silent_p.N109N			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	109	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						ACATAAAAAACGGACAGCTGT	0.507																																																	0													69.0	71.0	70.0					4																	81122551		1898	4120	6018	SO:0001819	synonymous_variant	0			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.327C>T	4.37:g.81122551C>T			A8K7X2|Q6IQ36	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N109	ENST00000504452.1	37	c.327	CCDS43243.1	4																																																																																			PRDM8	-	NULL	ENSG00000152784		0.507	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	-	0.00	44	0	C			81122551	+1	tier1	-	no_errors	ENST00000339711	ensembl	human	known	74_37	silent	50.00	29	29	SNP	1.000	T
PRDM9	56979	genome.wustl.edu	37	5	23526880	23526880	+	Silent	SNP	T	T	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:23526880T>C	ENST00000296682.3	+	11	1865	c.1683T>C	c.(1681-1683)ttT>ttC	p.F561F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	561					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGCGGGGCTTTAGCTGGAAGT	0.532										HNSCC(3;0.000094)																																							0													77.0	84.0	81.0					5																	23526880		2182	4295	6477	SO:0001819	synonymous_variant	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1683T>C	5.37:g.23526880T>C			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.F561	ENST00000296682.3	37	c.1683	CCDS43307.1	5																																																																																			PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.532	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0.00	114	0	T	NM_020227		23526880	+1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	silent	34.34	64	34	SNP	0.629	C
PRKDC	5591	genome.wustl.edu	37	8	48841652	48841653	+	Splice_Site	DEL	CT	CT	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:48841652_48841653delCT	ENST00000314191.2	-	19	2194_2195	c.2138_2139delAG	c.(2137-2139)gag>g	p.E713fs	PRKDC_ENST00000338368.3_Splice_Site_p.E713fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	713					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAAAAATTACCTCTTTGCCAAA	0.277								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0																																										SO:0001630	splice_region_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2139+1AG>-	8.37:g.48841654_48841655delCT			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E713fs	ENST00000314191.2	37	c.2139_2138		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.277	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding			0.00	107	0	CT	NM_001081640	Frame_Shift_Del	48841653	-1	tier1		no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_del	18.48	150	34	DEL	1.000:1.000	-
PSMA3	5684	genome.wustl.edu	37	14	58724482	58724482	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:58724482C>T	ENST00000216455.4	+	4	338	c.248C>T	c.(247-249)gCa>gTa	p.A83V	PSMA3_ENST00000412908.2_Missense_Mutation_p.A83V|PSMA3_ENST00000557508.1_Missense_Mutation_p.A8V	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GGTTTGTTGGCAGATGCTCGT	0.353																																																	0													108.0	101.0	104.0					14																	58724482		2203	4300	6503	SO:0001583	missense	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.248C>T	14.37:g.58724482C>T	ENSP00000216455:p.Ala83Val		B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.A83V	ENST00000216455.4	37	c.248	CCDS9731.1	14	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759577	0.89932	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508	T;T;T	0.32515	1.45;1.45;1.45	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	M	0.92219	3.285	0.80722	D	1	P;P	0.52692	0.945;0.955	B;P	0.45913	0.29;0.497	T	0.68439	-0.5408	10	0.62326	D	0.03	-13.7775	18.9069	0.92466	0.0:1.0:0.0:0.0	.	83;83	P25788-2;P25788	.;PSA3_HUMAN	V	83;83;8	ENSP00000216455:A83V;ENSP00000390491:A83V;ENSP00000452056:A8V	ENSP00000216455:A83V	A	+	2	0	PSMA3	57794235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.552000	0.86080	0.655000	0.94253	GCA	PSMA3	-	pfam_Proteasome_sua/b	ENSG00000100567		0.353	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	-	0.00	55	0	C	NM_002788		58724482	+1	tier1	-	no_errors	ENST00000216455	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
PTK2B	2185	genome.wustl.edu	37	8	27277410	27277412	+	Splice_Site	DEL	AGG	AGG	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:27277410_27277412delAGG	ENST00000397501.1	+	8	1012_1013	c.204_205delAGG	c.(202-207)cgagga>cgga	p.G69del	PTK2B_ENST00000346049.5_Splice_Site_p.G69del|PTK2B_ENST00000420218.2_Splice_Site_p.G69del|PTK2B_ENST00000544172.1_Splice_Site_p.G69del|PTK2B_ENST00000517339.1_Splice_Site_p.G69del|PTK2B_ENST00000338238.4_Splice_Site_p.G69del	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCTCCTCTGCAGGAGATCATCAC	0.557																																																	0																																										SO:0001630	splice_region_variant	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.205-1AGG>-	8.37:g.27277410_27277412delAGG			D3DST0|Q13475|Q14290|Q16709|Q6PID4	Splice_Site	DEL	-	e2-1	ENST00000397501.1	37	c.205-2_205-1	CCDS6057.1	8																																																																																			PTK2B	-	-	ENSG00000120899		0.557	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1		0.00	33	0	AGG	NM_004103	In_Frame_Del	27277412	+1	tier1		no_errors	ENST00000346049	ensembl	human	known	74_37	splice_site_del	18.75	39	9	DEL	0.992:1.000:1.000	-
PTPRG	5793	genome.wustl.edu	37	3	62229529	62229529	+	Silent	SNP	T	T	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:62229529T>C	ENST00000474889.1	+	15	2801	c.2424T>C	c.(2422-2424)ccT>ccC	p.P808P	PTPRG_ENST00000295874.10_Silent_p.P779P	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	808					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCAGTTCACCTCGAGTGGTCC	0.348																																																	0													103.0	106.0	105.0					3																	62229529		2203	4300	6503	SO:0001819	synonymous_variant	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2424T>C	3.37:g.62229529T>C			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P808	ENST00000474889.1	37	c.2424	CCDS2895.1	3																																																																																			PTPRG	-	NULL	ENSG00000144724		0.348	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	-	0.00	89	0	T	NM_002841		62229529	+1	tier1	-	no_errors	ENST00000474889	ensembl	human	known	74_37	silent	39.00	61	39	SNP	0.991	C
PTPRO	5800	genome.wustl.edu	37	12	15734642	15734642	+	Silent	SNP	G	G	T	rs561282231	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:15734642G>T	ENST00000281171.4	+	23	3492	c.3162G>T	c.(3160-3162)acG>acT	p.T1054T	PTPRO_ENST00000542557.1_Silent_p.T215T|PTPRO_ENST00000544244.1_Silent_p.T215T|PTPRO_ENST00000348962.2_Silent_p.T1026T|PTPRO_ENST00000445537.2_Silent_p.T243T|PTPRO_ENST00000442921.2_Silent_p.T243T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1054	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGCCATTCACGGAAGAACCTA	0.443																																																	0													111.0	99.0	103.0					12																	15734642		2203	4300	6503	SO:0001819	synonymous_variant	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3162G>T	12.37:g.15734642G>T			A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt	p.T1054	ENST00000281171.4	37	c.3162	CCDS8675.1	12																																																																																			PTPRO	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000151490		0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1		0.00	35	0	G			15734642	+1			no_errors	ENST00000281171	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.000	T
PTPRS	5802	genome.wustl.edu	37	19	5212059	5212059	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:5212059C>T	ENST00000587303.1	-	31	5071	c.4972G>A	c.(4972-4974)Gca>Aca	p.A1658T	PTPRS_ENST00000262963.6_Missense_Mutation_p.A1638T|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1620T|PTPRS_ENST00000592099.1_Missense_Mutation_p.A1211T|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1620T|PTPRS_ENST00000353284.2_Missense_Mutation_p.A1211T|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1658T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1659T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1658					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGGCTGCGTGCGGGCACTTCT	0.627																																																	0													62.0	57.0	59.0					19																	5212059		2203	4300	6503	SO:0001583	missense	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4972G>A	19.37:g.5212059C>T	ENSP00000467537:p.Ala1658Thr		O75255|O75870|Q15718|Q16341|Q2M3R7	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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.A1659T	ENST00000587303.1	37	c.4975	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	c	13.51	2.259539	0.39995	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	2.47	1.4	0.22301	.	0.170258	0.36815	N	0.002395	T	0.53433	0.1796	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.986;0.999;0.941;0.997;0.996	T	0.55585	-0.8118	10	0.87932	D	0	.	9.4096	0.38482	0.0:0.8892:0.0:0.1108	.	1240;1211;1215;1620;1658;1253	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	T	1253;1659;1658;1658;1649;1638;1620;1240;1215;1211	ENSP00000361489:A1659T;ENSP00000349932:A1658T;ENSP00000262963:A1638T;ENSP00000269907:A1620T;ENSP00000327313:A1211T	ENSP00000262963:A1638T	A	-	1	0	PTPRS	5163059	1.000000	0.71417	0.032000	0.17829	0.020000	0.10135	7.528000	0.81941	0.392000	0.25172	-0.342000	0.07992	GCA	PTPRS	-	NULL	ENSG00000105426		0.627	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2		0.00	45	0	C			5212059	-1			no_errors	ENST00000372412	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.991	T
RAB11A	8766	genome.wustl.edu	37	15	66180064	66180064	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:66180064G>A	ENST00000261890.2	+	5	665	c.537G>A	c.(535-537)aaG>aaA	p.K179K	RAB11A_ENST00000565075.1_Silent_p.K161K|RAB11A_ENST00000564910.1_Silent_p.K109K|RAB11A_ENST00000435304.2_Missense_Mutation_p.A148T|RAB11A_ENST00000569896.1_Missense_Mutation_p.A148T	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	179					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TTTCTCAGAAGCAAATGTCAG	0.383																																																	0													104.0	92.0	96.0					15																	66180064		2201	4299	6500	SO:0001819	synonymous_variant	0			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.537G>A	15.37:g.66180064G>A			B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A148T	ENST00000261890.2	37	c.442	CCDS10212.1	15	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579914	0.46006	.	.	ENSG00000103769	ENST00000435304	T	0.80653	-1.4	5.45	4.54	0.55810	.	.	.	.	.	T	0.75708	0.3886	.	.	.	0.25387	N	0.988565	B	0.22211	0.066	B	0.25759	0.063	T	0.67181	-0.5735	8	0.52906	T	0.07	.	14.3534	0.66719	0.0715:0.0:0.9285:0.0	.	148	B4DT13	.	T	148	ENSP00000405767:A148T	ENSP00000405767:A148T	A	+	1	0	RAB11A	63967118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.778000	0.62368	1.291000	0.44653	0.655000	0.94253	GCA	RAB11A	-	superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000103769		0.383	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11A	HGNC	protein_coding	OTTHUMT00000256864.1		0.00	37	0	G			66180064	+1			no_errors	ENST00000435304	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A
RAMP1	10267	genome.wustl.edu	37	2	238785925	238785925	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:238785925G>A	ENST00000254661.4	+	2	244	c.112G>A	c.(112-114)Gag>Aag	p.E38K	RAMP1_ENST00000409726.1_Missense_Mutation_p.E16K|RAMP1_ENST00000403885.1_Missense_Mutation_p.E16K|RAMP1_ENST00000404910.2_Missense_Mutation_p.E16K	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	38					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CCTCCTCCGGGAGCTCTGCCT	0.627																																					NSCLC(177;211 2889 43936 50767)												0													96.0	89.0	91.0					2																	238785925		2203	4300	6503	SO:0001583	missense	0			AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"""Receptor (G protein-coupled) activity modifying proteins"""	9843	protein-coding gene	gene with protein product		605153	"""receptor activity modifying protein 1"", ""receptor (calcitonin) activity modifying protein 1"""				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.112G>A	2.37:g.238785925G>A	ENSP00000254661:p.Glu38Lys		Q6FGS5	Missense_Mutation	SNP	pfam_RAMP	p.E38K	ENST00000254661.4	37	c.112	CCDS2522.1	2	.	.	.	.	.	.	.	.	.	.	G	6.634	0.485403	0.12641	.	.	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.84	3.06	0.35304	.	0.229422	0.43110	N	0.000601	T	0.30854	0.0778	L	0.37561	1.115	0.18873	N	0.999984	B	0.16396	0.017	B	0.22386	0.039	T	0.22173	-1.0224	10	0.48119	T	0.1	-30.0564	7.4644	0.27314	0.1965:0.0:0.8035:0.0	.	38	O60894	RAMP1_HUMAN	K	16;38;16;16	ENSP00000384688:E16K;ENSP00000254661:E38K;ENSP00000386720:E16K;ENSP00000386046:E16K	ENSP00000254661:E38K	E	+	1	0	RAMP1	238450664	0.016000	0.18221	0.037000	0.18230	0.004000	0.04260	0.503000	0.22610	0.652000	0.30806	-0.254000	0.11334	GAG	RAMP1	-	pfam_RAMP	ENSG00000132329		0.627	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAMP1	HGNC	protein_coding	OTTHUMT00000257166.2	-	0.00	52	0	G	NM_005855		238785925	+1	tier1	-	no_errors	ENST00000254661	ensembl	human	known	74_37	missense	55.56	32	40	SNP	0.048	A
RARS	5917	genome.wustl.edu	37	5	167933162	167933162	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:167933162G>T	ENST00000231572.3	+	10	1248	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	RARS_ENST00000538719.1_Missense_Mutation_p.E192D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	398					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GACTATTTGAGGAAAAAGCAG	0.358																																																	0													149.0	145.0	146.0					5																	167933162		2203	4300	6503	SO:0001583	missense	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1194G>T	5.37:g.167933162G>T	ENSP00000231572:p.Glu398Asp		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.E398D	ENST00000231572.3	37	c.1194	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199966	0.38905	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.64803	-0.12;-0.12	5.58	3.74	0.42951	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.137173	0.64402	D	0.000003	T	0.46814	0.1412	L	0.28014	0.82	0.54753	D	0.99998	B	0.17465	0.022	B	0.26614	0.071	T	0.36359	-0.9751	10	0.29301	T	0.29	-30.9484	8.9069	0.35530	0.2709:0.0:0.7291:0.0	.	398	P54136	SYRC_HUMAN	D	398;192	ENSP00000231572:E398D;ENSP00000439108:E192D	ENSP00000231572:E398D	E	+	3	2	RARS	167865740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.615000	0.24329	1.459000	0.47892	0.655000	0.94253	GAG	RARS	-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	ENSG00000113643		0.358	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	-	0.00	75	0	G	NM_002887		167933162	+1	tier1	-	no_errors	ENST00000231572	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
REXO1	57455	genome.wustl.edu	37	19	1828269	1828269	+	Silent	SNP	A	A	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:1828269A>C	ENST00000170168.4	-	2	613	c.519T>G	c.(517-519)ccT>ccG	p.P173P	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	173						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCTCGGCAGGGGCGGCCA	0.687																																																	0													7.0	11.0	9.0					19																	1828269		2088	4141	6229	SO:0001819	synonymous_variant	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.519T>G	19.37:g.1828269A>C			Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.P173	ENST00000170168.4	37	c.519	CCDS32866.1	19																																																																																			REXO1	-	NULL	ENSG00000079313		0.687	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	-	0.00	39	0	A	NM_020695		1828269	-1	tier1	-	no_errors	ENST00000170168	ensembl	human	known	74_37	silent	54.17	19	26	SNP	0.000	C
RGAG4	340526	genome.wustl.edu	37	X	71350845	71350845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:71350845delG	ENST00000545866.1	-	1	913	c.546delC	c.(544-546)cccfs	p.P182fs	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Frame_Shift_Del_p.P182fs|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	182										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGGCGCCCCCGGGGAAATGAA	0.582																																																	0													26.0	28.0	27.0					X																	71350845		1873	4089	5962	SO:0001589	frameshift_variant	0			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.546delC	X.37:g.71350845delG	ENSP00000441366:p.Pro182fs		A7E2W7|Q8NCM4|Q9NPX1	Frame_Shift_Del	DEL	pfam_Retrotrans_gag_dom	p.G184fs	ENST00000545866.1	37	c.546	CCDS55446.1	X																																																																																			RGAG4	-	NULL	ENSG00000242732		0.582	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1		0.00	35	0	G	NM_001024455		71350845	-1	tier1		no_errors	ENST00000479991	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.307	-
RGS19	10287	genome.wustl.edu	37	20	62705859	62705859	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:62705859C>T	ENST00000395042.1	-	4	454	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	RGS19_ENST00000493165.1_5'UTR|RGS19_ENST00000332298.5_Missense_Mutation_p.R63Q	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	63					autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTTGCTCTCCCGGGAGGCCTG	0.701																																																	0																																										SO:0001583	missense	0			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.188G>A	20.37:g.62705859C>T	ENSP00000378483:p.Arg63Gln		A8K216|E1P5G9|Q53XN0|Q8TD60	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.R63Q	ENST00000395042.1	37	c.188	CCDS13555.1	20	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806609	0.50421	.	.	ENSG00000171700	ENST00000395042;ENST00000332298	T;T	0.75477	-0.94;-0.94	5.05	3.14	0.36123	.	0.318772	0.17276	N	0.180197	T	0.57007	0.2024	N	0.16602	0.42	0.25631	N	0.986308	B	0.19073	0.033	B	0.14578	0.011	T	0.46484	-0.9188	10	0.35671	T	0.21	.	10.3941	0.44190	0.0:0.8423:0.0:0.1577	.	63	P49795	RGS19_HUMAN	Q	63	ENSP00000378483:R63Q;ENSP00000333194:R63Q	ENSP00000333194:R63Q	R	-	2	0	RGS19	62176303	0.000000	0.05858	0.996000	0.52242	0.928000	0.56348	-0.000000	0.12993	0.729000	0.32403	-0.253000	0.11424	CGG	RGS19	-	NULL	ENSG00000171700		0.701	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS19	HGNC	protein_coding	OTTHUMT00000080273.1	-	0.00	35	0	C	NM_005873		62705859	-1	tier1	-	no_errors	ENST00000332298	ensembl	human	known	74_37	missense	36.59	25	15	SNP	0.479	T
ROR1	4919	genome.wustl.edu	37	1	64643832	64643832	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:64643832A>G	ENST00000371079.1	+	9	2483	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G	ROR1_ENST00000545203.1_Missense_Mutation_p.E154G	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	703	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAAGTGATTGAGATGGTGAGA	0.458																																																	0													70.0	71.0	71.0					1																	64643832		2203	4300	6503	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2108A>G	1.37:g.64643832A>G	ENSP00000360120:p.Glu703Gly		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E703G	ENST00000371079.1	37	c.2108	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140717	0.77775	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	D;D	0.83755	-1.76;-1.76	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43416	D	0.000570	D	0.84951	0.5586	L	0.42632	1.34	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.86251	0.1649	10	0.54805	T	0.06	.	16.4728	0.84119	1.0:0.0:0.0:0.0	.	703	Q01973	ROR1_HUMAN	G	703;706;154	ENSP00000360120:E703G;ENSP00000441637:E154G	ENSP00000360120:E703G	E	+	2	0	ROR1	64416420	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	GAG	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR,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,pfscan_Prot_kinase_dom	ENSG00000185483		0.458	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	-	0.00	27	0	A	NM_005012		64643832	+1	tier1	-	no_errors	ENST00000371079	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	G
SDCBP	6386	genome.wustl.edu	37	8	59484765	59484765	+	Splice_Site	SNP	T	T	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:59484765T>C	ENST00000260130.4	+	4	282	c.132T>C	c.(130-132)aaT>aaC	p.N44N	SDCBP_ENST00000447267.2_Splice_Site_p.N44N|SDCBP_ENST00000523483.1_Splice_Site_p.N65N|SDCBP_ENST00000522243.1_3'UTR|SDCBP_ENST00000447182.2_Splice_Site_p.N44N|SDCBP_ENST00000422546.2_Splice_Site_p.N44N|SDCBP_ENST00000520168.1_Splice_Site_p.N44N|SDCBP_ENST00000413219.2_Splice_Site_p.N44N|SDCBP_ENST00000424270.2_Splice_Site_p.N38N	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	44					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACTTTTTAGATCTCTATCCCA	0.363																																																	0													100.0	110.0	106.0					8																	59484765		2203	4300	6503	SO:0001630	splice_region_variant	0			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.131-1T>C	8.37:g.59484765T>C			B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N44	ENST00000260130.4	37	c.132	CCDS6172.1	8																																																																																			SDCBP	-	NULL	ENSG00000137575		0.363	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1	-	0.00	60	0	T	NM_005625	Silent	59484765	+1	tier1	-	no_errors	ENST00000260130	ensembl	human	known	74_37	silent	29.51	86	36	SNP	0.962	C
SCRT1	83482	genome.wustl.edu	37	8	145559791	145559791	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:145559791G>A	ENST00000332135.4	-	1	152	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	14	SNAG domain. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A14V(1)		breast(2)|upper_aerodigestive_tract(1)	3	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;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGAAGAGAACGCGTCAAGTTT	0.692																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											31.0	29.0	30.0					8																	145559791		2201	4295	6496	SO:0001583	missense	0			BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"""Zinc fingers, C2H2-type"""	15950	protein-coding gene	gene with protein product		605858	"""scratch (drosophila homolog) 1, zinc finger protein"", ""scratch homolog 1, zinc finger protein (Drosophila)"""			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.41C>T	8.37:g.145559791G>A	ENSP00000331692:p.Ala14Val		A8MX66|Q96C52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A14V	ENST00000332135.4	37	c.41	CCDS6421.1	8	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361572	0.41801	.	.	ENSG00000170616	ENST00000332135	T	0.07800	3.16	3.85	2.95	0.34219	.	0.236296	0.27240	U	0.020271	T	0.06826	0.0174	L	0.34521	1.04	0.21841	N	0.999514	B	0.11235	0.004	B	0.10450	0.005	T	0.32025	-0.9922	10	0.34782	T	0.22	-4.1426	9.1775	0.37120	0.0:0.2244:0.7756:0.0	.	14	Q9BWW7	SCRT1_HUMAN	V	14	ENSP00000331692:A14V	ENSP00000331692:A14V	A	-	2	0	SCRT1	145530599	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	1.899000	0.39818	0.567000	0.29293	0.478000	0.44815	GCG	SCRT1	-	NULL	ENSG00000170616		0.692	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRT1	HGNC	protein_coding	OTTHUMT00000382800.2	-	0.00	111	0	G	NM_031309		145559791	-1	tier1	-	no_errors	ENST00000332135	ensembl	human	known	74_37	missense	20.88	71	19	SNP	1.000	A
SEPT4	5414	genome.wustl.edu	37	17	56603935	56603938	+	Intron	DEL	ACAC	ACAC	-	rs376508586|rs574305965|rs3034932	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	ACAC	ACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:56603935_56603938delACAC	ENST00000317268.3	-	2	534				RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000426861.1_Intron|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580791.1_Intron|SEPT4_ENST00000393086.1_Intron|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000583114.1_Intron|SEPT4_ENST00000412945.3_Intron	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4						apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					acacacacaaacacacacacacac	0.549																																																	0																																										SO:0001627	intron_variant	0			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.357+104GTGT>-	17.37:g.56603943_56603946delACAC			B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	RNA	DEL	-	NULL	ENST00000317268.3	37	NULL	CCDS11610.1	17																																																																																			SEPT4	-	-	ENSG00000108387		0.549	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	HGNC	protein_coding	OTTHUMT00000445420.1		0.00	9	0	ACAC	NM_080417		56603938	-1	tier1		no_errors	ENST00000580740	ensembl	human	known	74_37	rna	10.53	17	2	DEL	0.000:0.000:0.000:0.000	-
SETD2	29072	genome.wustl.edu	37	3	47165518	47165519	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:47165518_47165519delGA	ENST00000409792.3	-	3	649_650	c.607_608delTC	c.(607-609)tcafs	p.S204fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	204	Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCTGGTGATGAGAGTGTTGTG	0.525			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.607_608delTC	3.37:g.47165520_47165521delGA	ENSP00000386759:p.Ser204fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.S203fs	ENST00000409792.3	37	c.608_607	CCDS2749.2	3																																																																																			SETD2	-	NULL	ENSG00000181555		0.525	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2		0.00	65	0	GA	NM_014159		47165519	-1	tier1		no_errors	ENST00000409792	ensembl	human	known	74_37	frame_shift_del	23.68	58	18	DEL	0.025:0.018	-
SETDB1	9869	genome.wustl.edu	37	1	150923484	150923484	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:150923484C>T	ENST00000271640.5	+	13	2321	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	SETDB1_ENST00000368969.4_Missense_Mutation_p.R711C|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	711					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGCAAGGAACGTATCCCGGG	0.512																																																	0													82.0	86.0	84.0					1																	150923484		2203	4300	6503	SO:0001583	missense	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2131C>T	1.37:g.150923484C>T	ENSP00000271640:p.Arg711Cys		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R711C	ENST00000271640.5	37	c.2131	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644162	0.67244	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.89343	-2.5;-2.5;-2.5	5.66	4.67	0.58626	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	M	0.79805	2.47	0.80722	D	1	P;B;B	0.42556	0.783;0.214;0.254	B;B;B	0.38296	0.27;0.049;0.082	D	0.89751	0.3940	10	0.72032	D	0.01	.	16.4729	0.84119	0.1397:0.8603:0.0:0.0	.	711;711;711	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	C	711	ENSP00000271640:R711C;ENSP00000357965:R711C;ENSP00000432348:R711C	ENSP00000271640:R711C	R	+	1	0	SETDB1	149190108	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.063000	0.30567	2.656000	0.90262	0.655000	0.94253	CGT	SETDB1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub	ENSG00000143379		0.512	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0.00	55	0	C			150923484	+1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
SETDB1	9869	genome.wustl.edu	37	1	150936765	150936765	+	Silent	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:150936765C>T	ENST00000271640.5	+	22	3991	c.3801C>T	c.(3799-3801)taC>taT	p.Y1267Y	SETDB1_ENST00000368969.4_Silent_p.Y1266Y|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1267					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTACAACTACGAGGTGGGCA	0.522																																																	0													160.0	123.0	135.0					1																	150936765		2203	4300	6503	SO:0001819	synonymous_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3801C>T	1.37:g.150936765C>T			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.Y1267	ENST00000271640.5	37	c.3801	CCDS44217.1	1																																																																																			SETDB1	-	smart_SET_dom,pfscan_SET_dom	ENSG00000143379		0.522	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0.00	97	0	C			150936765	+1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	34.29	69	36	SNP	0.464	T
SETMAR	6419	genome.wustl.edu	37	3	4357930	4357930	+	Missense_Mutation	SNP	G	G	T	rs369900694		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:4357930G>T	ENST00000358065.4	+	3	1122	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	SETMAR_ENST00000425863.1_Missense_Mutation_p.R213L|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	352	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		aagcaaattcgagcaattttc	0.338								Chromatin Structure																																									0													2.0	1.0	1.0					3																	4357930		1073	1718	2791	SO:0001583	missense	0			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1055G>T	3.37:g.4357930G>T	ENSP00000373354:p.Arg352Leu		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R352L	ENST00000358065.4	37	c.1055	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321855	0.41096	.	.	ENSG00000170364	ENST00000358065;ENST00000425863;ENST00000358950	T;T;T	0.45276	0.9;0.9;0.9	0.235	0.235	0.15431	.	.	.	.	.	T	0.49253	0.1546	L	0.55213	1.73	0.22719	N	0.998816	D;D;P;P	0.63880	0.993;0.975;0.686;0.94	P;P;B;P	0.58620	0.842;0.764;0.25;0.599	T	0.35895	-0.9770	8	0.66056	D	0.02	.	.	.	.	.	96;213;339;97	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	L	352;213;116	ENSP00000373354:R352L;ENSP00000403145:R213L;ENSP00000369673:R116L	ENSP00000373354:R352L	R	+	2	0	SETMAR	4332930	0.984000	0.35163	0.798000	0.32154	0.795000	0.44927	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CGA	SETMAR	-	NULL	ENSG00000170364		0.338	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	-	0.00	21	0	G	NM_006515		4357930	+1	tier1	-	no_errors	ENST00000358065	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.853	T
SH2D4A	63898	genome.wustl.edu	37	8	19250858	19250860	+	In_Frame_Del	DEL	CTT	CTT	-	rs149184974		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:19250858_19250860delCTT	ENST00000265807.3	+	9	1489_1491	c.1078_1080delCTT	c.(1078-1080)cttdel	p.L362del	SH2D4A_ENST00000518040.1_In_Frame_Del_p.L317del|SH2D4A_ENST00000519207.1_In_Frame_Del_p.L362del	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	362	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGCAAATGAACTTCTTCTGAGCA	0.458																																																	0																																										SO:0001651	inframe_deletion	0			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1078_1080delCTT	8.37:g.19250861_19250863delCTT	ENSP00000265807:p.Leu362del		B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	In_Frame_Del	DEL	pfam_SH2,smart_SH2,pfscan_SH2	p.L362in_frame_del	ENST00000265807.3	37	c.1078_1080	CCDS6009.1	8																																																																																			SH2D4A	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000104611		0.458	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D4A	HGNC	protein_coding	OTTHUMT00000214094.1		0.00	68	0	CTT	NM_022071		19250860	+1	tier1		no_errors	ENST00000265807	ensembl	human	known	74_37	in_frame_del	32.61	62	30	DEL	0.962:0.910:0.510	-
SIM1	6492	genome.wustl.edu	37	6	100838305	100838305	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:100838305G>T	ENST00000369208.3	-	12	3015	c.2233C>A	c.(2233-2235)Ctg>Atg	p.L745M	SIM1_ENST00000262901.4_Missense_Mutation_p.L745M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	745	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGCATCCTCAGATGGGAAGTT	0.413																																																	0													171.0	161.0	165.0					6																	100838305		2203	4300	6503	SO:0001583	missense	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2233C>A	6.37:g.100838305G>T	ENSP00000358210:p.Leu745Met		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.L745M	ENST00000369208.3	37	c.2233	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522131	0.44866	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.05382	3.45;3.45	6.1	5.13	0.70059	Single-minded, C-terminal (1);	0.133386	0.52532	D	0.000070	T	0.01800	0.0057	N	0.24115	0.695	0.49051	D	0.999749	B	0.28082	0.2	B	0.24701	0.055	T	0.48281	-0.9049	10	0.35671	T	0.21	.	7.1318	0.25507	0.2259:0.0:0.7741:0.0	.	745	P81133	SIM1_HUMAN	M	745	ENSP00000358210:L745M;ENSP00000262901:L745M	ENSP00000262901:L745M	L	-	1	2	SIM1	100945026	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.950000	0.29122	2.902000	0.99343	0.650000	0.86243	CTG	SIM1	-	NULL	ENSG00000112246		0.413	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	-	0.00	89	0	G	NM_005068		100838305	-1	tier1	-	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	33.01	69	34	SNP	1.000	T
SLC39A11	201266	genome.wustl.edu	37	17	70643714	70643714	+	3'UTR	SNP	G	G	A	rs193153239	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:70643714G>A	ENST00000542342.2	-	0	1126				SLC39A11_ENST00000255559.3_3'UTR|SLC39A11_ENST00000579988.1_5'UTR	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11						zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GGTCCGAAGCGTCTCAGCCCT	0.507																																					NSCLC(95;736 1527 12296 39625 41839)												0													80.0	69.0	73.0					17																	70643714		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.*9C>T	17.37:g.70643714G>A			B2R8H7|Q8WZ81	RNA	SNP	-	NULL	ENST00000542342.2	37	NULL	CCDS54160.1	17																																																																																			SLC39A11	-	-	ENSG00000133195		0.507	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A11	HGNC	protein_coding	OTTHUMT00000441442.1	-	0.00	58	0	G			70643714	-1	tier1	-	no_errors	ENST00000579988	ensembl	human	known	74_37	rna	27.27	72	27	SNP	0.000	A
SLC4A9	83697	genome.wustl.edu	37	5	139745542	139745545	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTTA	CTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:139745542_139745545delCTTA	ENST00000230993.6	+	13	1941_1944	c.1906_1909delCTTA	c.(1906-1911)cttactfs	p.LT636fs	SLC4A9_ENST00000506757.2_Frame_Shift_Del_p.LT612fs|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000507527.1_Frame_Shift_Del_p.LT636fs|SLC4A9_ENST00000432095.2_Frame_Shift_Del_p.LT598fs	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	636	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCTTCCTTACTTCTTTCTT	0.559																																																	0																																										SO:0001589	frameshift_variant	0			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1906_1909delCTTA	5.37:g.139745542_139745545delCTTA	ENSP00000230993:p.Leu636fs		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Frame_Shift_Del	DEL	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.T637fs	ENST00000230993.6	37	c.1906_1909	CCDS58973.1	5																																																																																			SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000113073		0.559	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1		0.00	46	0	CTTA	NM_031467		139745545	+1	tier1		no_errors	ENST00000230993	ensembl	human	known	74_37	frame_shift_del	13.95	37	6	DEL	1.000:1.000:0.995:1.000	-
SLU7	10569	genome.wustl.edu	37	5	159840617	159840617	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:159840617C>T	ENST00000297151.4	-	5	803	c.416G>A	c.(415-417)cGa>cAa	p.R139Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	139					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTCCAACTCGCCTAGGTCT	0.408																																																	0													86.0	80.0	82.0					5																	159840617		2203	4299	6502	SO:0001583	missense	0			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.416G>A	5.37:g.159840617C>T	ENSP00000297151:p.Arg139Gln		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.R139Q	ENST00000297151.4	37	c.416	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650337	0.47362	.	.	ENSG00000164609	ENST00000297151;ENST00000521826	T;T	0.44482	1.51;0.92	5.56	2.73	0.32206	.	0.208186	0.48767	N	0.000175	T	0.28200	0.0696	L	0.45581	1.43	0.37973	D	0.933349	P	0.35872	0.525	B	0.24541	0.054	T	0.14504	-1.0470	10	0.72032	D	0.01	-21.6997	6.1455	0.20283	0.1322:0.6416:0.0:0.2262	.	139	O95391	SLU7_HUMAN	Q	139	ENSP00000297151:R139Q;ENSP00000428943:R139Q	ENSP00000297151:R139Q	R	-	2	0	SLU7	159773195	1.000000	0.71417	0.996000	0.52242	0.780000	0.44128	2.599000	0.46231	0.265000	0.21872	0.563000	0.77884	CGA	SLU7	-	NULL	ENSG00000164609		0.408	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	-	0.00	40	0	C	NM_006425		159840617	-1	tier1	-	no_errors	ENST00000297151	ensembl	human	known	74_37	missense	40.35	34	23	SNP	1.000	T
SMARCA4	6597	genome.wustl.edu	37	19	11123693	11123693	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:11123693G>T	ENST00000429416.3	+	17	2624	c.2343G>T	c.(2341-2343)atG>atT	p.M781I	SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I|RN7SL192P_ENST00000584303.1_RNA|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000358026.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	781	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGAGATGGGCCTGGGGA	0.577			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											169.0	110.0	130.0					19																	11123693		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2343G>T	19.37:g.11123693G>T	ENSP00000395654:p.Met781Ile		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.M781I	ENST00000429416.3	37	c.2343	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760573	0.89932	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	H	0.99811	4.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;0.991;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.992;0.999;0.999	D	0.99177	1.0866	10	0.87932	D	0	-46.3851	16.6409	0.85098	0.0:0.0:1.0:0.0	.	781;781;781;781;781;781;781	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	I	781;781;845;781;781;781;781;781	ENSP00000395654:M781I;ENSP00000350720:M781I;ENSP00000343896:M781I;ENSP00000445036:M781I;ENSP00000392837:M781I;ENSP00000397783:M781I;ENSP00000414727:M781I	ENSP00000343896:M781I	M	+	3	0	SMARCA4	10984693	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.657000	0.98554	2.456000	0.83038	0.655000	0.94253	ATG	SMARCA4	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000127616		0.577	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0.00	44	0	G	NM_003072		11123693	+1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	23.21	43	13	SNP	1.000	T
SMARCA5	8467	genome.wustl.edu	37	4	144449849	144449849	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:144449849T>A	ENST00000283131.3	+	8	1533	c.1071T>A	c.(1069-1071)gaT>gaA	p.D357E		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	357	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGTTGCCAGATGTGTTTAATT	0.343																																																	0													160.0	143.0	149.0					4																	144449849		2203	4300	6503	SO:0001583	missense	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1071T>A	4.37:g.144449849T>A	ENSP00000283131:p.Asp357Glu			Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D357E	ENST00000283131.3	37	c.1071	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756224	0.69648	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.93604	-3.25	5.94	4.76	0.60689	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	N	0.03253	-0.375	0.53688	D	0.999973	P	0.41978	0.767	P	0.46885	0.53	D	0.85973	0.1478	10	0.34782	T	0.22	-5.2033	12.1443	0.54014	0.0:0.0666:0.0:0.9334	.	357	O60264	SMCA5_HUMAN	E	357;300;300	ENSP00000283131:D357E	ENSP00000283131:D357E	D	+	3	2	SMARCA5	144669299	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.289000	0.43523	1.074000	0.40909	-0.280000	0.10049	GAT	SMARCA5	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000153147		0.343	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	-	0.00	91	0	T			144449849	+1	tier1	-	no_errors	ENST00000283131	ensembl	human	known	74_37	missense	75.64	19	59	SNP	1.000	A
SNX5	27131	genome.wustl.edu	37	20	17928184	17928184	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:17928184G>T	ENST00000377768.3	-	12	1336	c.1024C>A	c.(1024-1026)Cac>Aac	p.H342N	SNX5_ENST00000377759.4_Missense_Mutation_p.H342N|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	342	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCCTGCTGGTGTGCCTCAGCC	0.428																																																	0													116.0	105.0	109.0					20																	17928184		2203	4300	6503	SO:0001583	missense	0			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.1024C>A	20.37:g.17928184G>T	ENSP00000366998:p.His342Asn		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.H342N	ENST00000377768.3	37	c.1024	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536352	0.27475	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.58060	0.36;0.36	5.31	3.29	0.37713	Vps5 C-terminal (1);	0.087553	0.85682	N	0.000000	T	0.43523	0.1251	L	0.38838	1.175	0.54753	D	0.999984	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.008	T	0.26744	-1.0094	10	0.40728	T	0.16	-16.3004	14.4466	0.67356	0.0:0.0:0.7311:0.2688	.	363;342	B7Z476;Q9Y5X3	.;SNX5_HUMAN	N	342	ENSP00000366998:H342N;ENSP00000366988:H342N	ENSP00000366988:H342N	H	-	1	0	SNX5	17876184	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	3.861000	0.56002	0.657000	0.30906	0.650000	0.86243	CAC	SNX5	-	pfam_Vps5_C,pirsf_Snx5_Snx6	ENSG00000089006		0.428	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4		0.00	78	0	G			17928184	-1			no_errors	ENST00000377759	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
SOX6	55553	genome.wustl.edu	37	11	16077436	16077436	+	Silent	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:16077436G>T	ENST00000352083.6	-	10	1190	c.1113C>A	c.(1111-1113)gcC>gcA	p.A371A	SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528252.1_Silent_p.A330A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	371					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCTGAGCGGCATAGAGCT	0.448																																																	0													98.0	86.0	90.0					11																	16077436		2200	4294	6494	SO:0001819	synonymous_variant	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1113C>A	11.37:g.16077436G>T			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A371	ENST00000352083.6	37	c.1113		11																																																																																			SOX6	-	NULL	ENSG00000110693		0.448	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	-	0.00	84	0	G	NM_033326		16077436	-1	tier1	-	no_errors	ENST00000352083	ensembl	human	known	74_37	silent	5.48	68	4	SNP	0.987	T
SOX9	6662	genome.wustl.edu	37	17	70117939	70117939	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:70117939G>A	ENST00000245479.2	+	1	779	c.407G>A	c.(406-408)aGc>aAc	p.S136N		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	136					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCCGAGCTCAGCAAGACGCTG	0.716																																					Pancreas(42;83 1041 2320 35205 39456)												0													14.0	14.0	14.0					17																	70117939		2200	4295	6495	SO:0001583	missense	0			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.407G>A	17.37:g.70117939G>A	ENSP00000245479:p.Ser136Asn		Q53Y80	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S136N	ENST00000245479.2	37	c.407	CCDS11689.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276111	0.80580	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.94862	-3.54	3.83	3.83	0.44106	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.95915	0.8670	M	0.87456	2.885	0.80722	D	1	P	0.40578	0.722	P	0.46172	0.506	D	0.96991	0.9722	10	0.87932	D	0	.	15.7442	0.77926	0.0:0.0:1.0:0.0	.	136	P48436	SOX9_HUMAN	N	136	ENSP00000245479:S136N	ENSP00000245479:S136N	S	+	2	0	SOX9	67629534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.526000	0.98042	1.694000	0.51137	0.436000	0.28706	AGC	SOX9	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000125398		0.716	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX9	HGNC	protein_coding	OTTHUMT00000389032.1	-	0.00	81	0	G	NM_000346		70117939	+1	tier1	-	no_errors	ENST00000245479	ensembl	human	known	74_37	missense	55.65	51	64	SNP	1.000	A
SSH3	54961	genome.wustl.edu	37	11	67075317	67075317	+	Splice_Site	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:67075317G>A	ENST00000308127.4	+	8	970	c.792G>A	c.(790-792)ggG>ggA	p.G264G	SSH3_ENST00000308298.7_Splice_Site_p.G264G|SSH3_ENST00000376757.5_Splice_Site_p.G264G|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	264					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGCTCCCAGGTCCTCAGAAC	0.607																																																	0													77.0	75.0	76.0					11																	67075317		2200	4295	6495	SO:0001630	splice_region_variant	0			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.792-1G>A	11.37:g.67075317G>A			Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.G264	ENST00000308127.4	37	c.792	CCDS8157.1	11																																																																																			SSH3	-	NULL	ENSG00000172830		0.607	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	-	0.00	61	0	G	NM_018276	Silent	67075317	+1	tier1	-	no_errors	ENST00000308127	ensembl	human	known	74_37	silent	26.56	47	17	SNP	1.000	A
ST6GAL2	84620	genome.wustl.edu	37	2	107449090	107449090	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:107449090G>T	ENST00000409382.3	-	4	1684	c.1074C>A	c.(1072-1074)gaC>gaA	p.D358E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D358E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D358E|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	358					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACAGTGAACTGTCAATGAAGT	0.433																																																	0													91.0	91.0	91.0					2																	107449090		2203	4300	6503	SO:0001583	missense	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1074C>A	2.37:g.107449090G>T	ENSP00000386942:p.Asp358Glu		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.D358E	ENST00000409382.3	37	c.1074	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076781	0.36662	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	D;D;D	0.92348	-3.02;-3.02;-3.02	6.17	2.37	0.29283	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.260786	0.47852	N	0.000216	D	0.84687	0.5527	L	0.39085	1.19	0.42420	D	0.992631	B;B	0.13145	0.007;0.004	B;B	0.17979	0.009;0.02	T	0.73263	-0.4038	10	0.18276	T	0.48	-47.6285	7.2183	0.25971	0.1934:0.0:0.6867:0.1199	.	358;358	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	E	358	ENSP00000355273:D358E;ENSP00000386942:D358E;ENSP00000387332:D358E	ENSP00000355273:D358E	D	-	3	2	ST6GAL2	106815522	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.237000	0.17985	0.482000	0.27582	0.655000	0.94253	GAC	ST6GAL2	-	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000144057		0.433	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0.00	78	0	G	NM_032528		107449090	-1	tier1	-	no_errors	ENST00000361686	ensembl	human	known	74_37	missense	53.23	58	66	SNP	0.999	T
ST8SIA4	7903	genome.wustl.edu	37	5	100192077	100192077	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:100192077T>A	ENST00000231461.5	-	4	837	c.527A>T	c.(526-528)gAg>gTg	p.E176V		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	176					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TGCAGCAAACTCCACCACAGG	0.363																																																	0													63.0	61.0	61.0					5																	100192077		2203	4300	6503	SO:0001583	missense	0			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.527A>T	5.37:g.100192077T>A	ENSP00000231461:p.Glu176Val		A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E176V	ENST00000231461.5	37	c.527	CCDS4091.1	5	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337267	0.60963	.	.	ENSG00000113532	ENST00000231461	T	0.32272	1.46	5.32	5.32	0.75619	.	0.065942	0.64402	D	0.000008	T	0.49932	0.1586	M	0.73430	2.235	0.80722	D	1	P	0.49090	0.919	P	0.56563	0.801	T	0.48445	-0.9035	10	0.40728	T	0.16	-2.9769	14.6008	0.68441	0.0:0.0:0.0:1.0	.	176	Q92187	SIA8D_HUMAN	V	176	ENSP00000231461:E176V	ENSP00000231461:E176V	E	-	2	0	ST8SIA4	100219976	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.946000	0.63576	2.220000	0.72140	0.482000	0.46254	GAG	ST8SIA4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000113532		0.363	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	-	0.00	42	0	T	NM_005668		100192077	-1	tier1	-	no_errors	ENST00000231461	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	A
STAG3	10734	genome.wustl.edu	37	7	99795228	99795228	+	Intron	SNP	G	G	T	rs2405730		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:99795228G>T	ENST00000426455.1	+	11	1472				STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3						chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGATCCTTTTGTTTTTTAAGT	0.458																																																	0																																										SO:0001627	intron_variant	0			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1066-173G>T	7.37:g.99795228G>T			A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	RNA	SNP	-	NULL	ENST00000426455.1	37	NULL	CCDS34703.1	7																																																																																			STAG3	-	-	ENSG00000066923		0.458	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	-	0.00	39	0	G	NM_012447		99795228	+1	tier1	rs2405730	no_errors	ENST00000440830	ensembl	human	known	74_37	rna	8.00	69	6	SNP	0.000	T
SULT1A1	6817	genome.wustl.edu	37	16	28617217	28617217	+	Silent	SNP	C	C	T	rs202065838		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr16:28617217C>T	ENST00000395607.1	-	8	1086	c.813G>A	c.(811-813)gcG>gcA	p.A271A	SULT1A1_ENST00000395609.1_Silent_p.A271A|SULT1A1_ENST00000350842.4_Silent_p.A193A|SULT1A1_ENST00000569554.1_Silent_p.A271A|SULT1A1_ENST00000314752.7_Silent_p.A271A	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	271					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GCTCATTCTGCGCCACGGTGA	0.622																																																	0								C	,,,,	1,4391		0,1,2195	27.0	22.0	24.0		813,813,813,813,579	1.0	1.0	16		24	2,8548		0,2,4273	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	,,,,	0,3,6468	TT,TC,CC		0.0234,0.0228,0.0232	,,,,	271/296,271/296,271/296,271/296,193/218	28617217	3,12939	2196	4275	6471	SO:0001819	synonymous_variant	0			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.813G>A	16.37:g.28617217C>T			Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A271	ENST00000395607.1	37	c.813	CCDS32420.1	16																																																																																			SULT1A1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000196502		0.622	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	-	0.00	56	0	C	NM_001055		28617217	-1	tier1	rs202065838	no_errors	ENST00000314752	ensembl	human	known	74_37	silent	25.00	60	20	SNP	0.992	T
SYCE3	644186	genome.wustl.edu	37	22	50989685	50989685	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:50989685G>C	ENST00000406915.3	-	3	303	c.256C>G	c.(256-258)Caa>Gaa	p.Q86E	SYCE3_ENST00000402753.1_Missense_Mutation_p.Q86E	NM_001123225.1	NP_001116697.1	A1L190	SYCE3_HUMAN	synaptonemal complex central element protein 3	86					positive regulation of apoptotic process (GO:0043065)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|chromosome (GO:0005694)|nucleus (GO:0005634)				endometrium(1)|kidney(1)	2						TACAGCCTTTGCTTGGTCTCA	0.602																																																	0													59.0	62.0	61.0					22																	50989685		692	1591	2283	SO:0001583	missense	0				CCDS46733.1	22q13.33	2011-10-05	2011-10-05	2011-10-05	ENSG00000217442	ENSG00000217442			35245	protein-coding gene	gene with protein product	"""testis highly expressed protein 2"""	615775	"""chromosome 22 open reading frame 41"""	C22orf41		21637789	Standard	NM_001123225		Approved		uc010hbe.3	A1L190	OTTHUMG00000150273	ENST00000406915.3:c.256C>G	22.37:g.50989685G>C	ENSP00000385480:p.Gln86Glu			Missense_Mutation	SNP	NULL	p.Q86E	ENST00000406915.3	37	c.256	CCDS46733.1	22	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684116	0.14907	.	.	ENSG00000217442	ENST00000406915;ENST00000402753	T;T	0.42900	0.96;0.96	5.19	5.19	0.71726	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.23645	N	0.997216	B	0.12630	0.006	B	0.16289	0.015	T	0.13548	-1.0505	8	0.36615	T	0.2	0.3762	16.248	0.82460	0.0:0.0:1.0:0.0	.	86	A1L190	SYCE3_HUMAN	E	86	ENSP00000385480:Q86E;ENSP00000385122:Q86E	ENSP00000385122:Q86E	Q	-	1	0	C22orf41	49336551	0.384000	0.25164	0.719000	0.30619	0.262000	0.26303	1.603000	0.36794	2.704000	0.92352	0.491000	0.48974	CAA	SYCE3	-	NULL	ENSG00000217442		0.602	SYCE3-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	SYCE3	HGNC	protein_coding	OTTHUMT00000317660.1	-	0.00	35	0	G	NM_001123225		50989685	-1	tier1	-	no_errors	ENST00000402753	ensembl	human	putative	74_37	missense	32.20	40	19	SNP	0.966	C
TARM1	441864	genome.wustl.edu	37	19	54584606	54584606	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:54584606T>C	ENST00000432826.1	-	1	28	c.4A>G	c.(4-6)Atc>Gtc	p.I2V		NM_001135686.1	NP_001129158.2	B6A8C7	TARM1_HUMAN	T cell-interacting, activating receptor on myeloid cells 1	2						integral component of membrane (GO:0016021)				endometrium(1)|stomach(2)	3						AGCTTAGGGATCATGATGGCT	0.557																																																	0													182.0	156.0	164.0					19																	54584606		692	1591	2283	SO:0001583	missense	0				CCDS46173.1	19q13.42	2013-01-29			ENSG00000248385	ENSG00000248385		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	37250	protein-coding gene	gene with protein product							Standard	XM_005258952		Approved		uc010yei.1	B6A8C7		ENST00000432826.1:c.4A>G	19.37:g.54584606T>C	ENSP00000439454:p.Ile2Val		B4DWY4	Missense_Mutation	SNP	smart_Ig_sub	p.I2V	ENST00000432826.1	37	c.4	CCDS46173.1	19	.	.	.	.	.	.	.	.	.	.	.	1.020	-0.685083	0.03328	.	.	ENSG00000248385	ENST00000432826	T	0.00470	7.2	2.15	1.08	0.20341	.	.	.	.	.	T	0.00384	0.0012	L	0.42245	1.32	0.09310	N	0.999995	P	0.41597	0.756	B	0.41571	0.36	T	0.50013	-0.8877	9	0.56958	D	0.05	.	5.0717	0.14609	0.0:0.0:0.3121:0.6879	.	2	B6A8C7	TARM1_HUMAN	V	2	ENSP00000439454:I2V	ENSP00000439454:I2V	I	-	1	0	TARM1	59276418	0.051000	0.20477	0.085000	0.20634	0.013000	0.08279	0.068000	0.14531	0.268000	0.21939	0.418000	0.28097	ATC	TARM1	-	NULL	ENSG00000248385		0.557	TARM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TARM1	HGNC	protein_coding	OTTHUMT00000465679.1		0.00	74	0	T	NM_001135686		54584606	-1			no_errors	ENST00000432826	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.098	C
TAS2R50	259296	genome.wustl.edu	37	12	11138968	11138968	+	Silent	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:11138968C>T	ENST00000506868.1	-	1	543	c.492G>A	c.(490-492)ggG>ggA	p.G164G	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	164					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ATTTCATCTTCCCAGTCATGT	0.388																																																	0													164.0	150.0	155.0					12																	11138968		2203	4300	6503	SO:0001819	synonymous_variant	0			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.492G>A	12.37:g.11138968C>T			P59545|Q2M255|Q645Y0	Silent	SNP	pfam_TAS2_rcpt	p.G164	ENST00000506868.1	37	c.492	CCDS8638.1	12																																																																																			TAS2R50	-	pfam_TAS2_rcpt	ENSG00000212126		0.388	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2	-	0.00	43	0	C	NM_176890		11138968	-1	tier1	-	no_errors	ENST00000506868	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.001	T
TBL1XR1	79718	genome.wustl.edu	37	3	176755901	176755901	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:176755901G>T	ENST00000430069.1	-	12	1366	c.1107C>A	c.(1105-1107)gaC>gaA	p.D369E	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D369E			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	369					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AAGTCATGTCGTCAGAACAGG	0.383																																																	0													85.0	83.0	84.0					3																	176755901		1900	4118	6018	SO:0001583	missense	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1107C>A	3.37:g.176755901G>T	ENSP00000405574:p.Asp369Glu		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D369E	ENST00000430069.1	37	c.1107	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217310	0.79352	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.60299	0.2;0.2	5.48	1.82	0.25136	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047137	0.85682	D	0.000000	T	0.65471	0.2694	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.60826	-0.7186	10	0.46703	T	0.11	-9.4324	9.211	0.37318	0.7097:0.0:0.2902:0.0	.	369	Q9BZK7	TBL1R_HUMAN	E	369;369;231	ENSP00000405574:D369E;ENSP00000413251:D369E	ENSP00000405574:D369E	D	-	3	2	TBL1XR1	178238595	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.165000	0.42396	0.085000	0.17107	-0.324000	0.08512	GAC	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000177565		0.383	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	-	0.00	51	0	G	NM_024665		176755901	-1	tier1	-	no_errors	ENST00000430069	ensembl	human	known	74_37	missense	26.39	53	19	SNP	1.000	T
TCHHL1	126637	genome.wustl.edu	37	1	152058560	152058560	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:152058560T>C	ENST00000368806.1	-	3	1662	c.1598A>G	c.(1597-1599)gAg>gGg	p.E533G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	533							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCAGGGTCCTCCCCCTGGTA	0.507																																																	0													131.0	120.0	124.0					1																	152058560		2203	4300	6503	SO:0001583	missense	0				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1598A>G	1.37:g.152058560T>C	ENSP00000357796:p.Glu533Gly		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.E533G	ENST00000368806.1	37	c.1598	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	17.62	3.434206	0.62955	.	.	ENSG00000182898	ENST00000368806	T	0.34667	1.35	5.45	5.45	0.79879	.	0.781386	0.10838	N	0.628617	T	0.34832	0.0911	L	0.54323	1.7	0.09310	N	1	D	0.62365	0.991	P	0.55667	0.781	T	0.22941	-1.0202	10	0.49607	T	0.09	-1.4011	11.8985	0.52669	0.0:0.0:0.0:1.0	.	533	Q5QJ38	TCHL1_HUMAN	G	533	ENSP00000357796:E533G	ENSP00000357796:E533G	E	-	2	0	TCHHL1	150325184	0.049000	0.20398	0.003000	0.11579	0.014000	0.08584	3.783000	0.55409	2.069000	0.61940	0.528000	0.53228	GAG	TCHHL1	-	NULL	ENSG00000182898		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2		0.00	28	0	T	XM_060104		152058560	-1			no_errors	ENST00000368806	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.006	C
TCHH	7062	genome.wustl.edu	37	1	152085342	152085342	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:152085342T>G	ENST00000368804.1	-	2	350	c.351A>C	c.(349-351)gaA>gaC	p.E117D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	117					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTTGGTCTTCTTCTTGCC	0.577																																																	0													216.0	207.0	209.0					1																	152085342		1963	4160	6123	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.351A>C	1.37:g.152085342T>G	ENSP00000357794:p.Glu117Asp		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E117D	ENST00000368804.1	37	c.351	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	t	7.404	0.633347	0.14322	.	.	ENSG00000159450	ENST00000368804	T	0.05925	3.37	1.28	1.28	0.21552	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.19300	N	0.999977	D	0.55385	0.971	P	0.45071	0.468	T	0.36601	-0.9741	9	0.15499	T	0.54	.	4.6075	0.12385	0.0:0.0:0.0:1.0	.	117	Q07283	TRHY_HUMAN	D	117	ENSP00000357794:E117D	ENSP00000357794:E117D	E	-	3	2	TCHH	150351966	0.999000	0.42202	0.989000	0.46669	0.735000	0.41995	0.104000	0.15313	0.559000	0.29153	0.411000	0.27672	GAA	TCHH	-	NULL	ENSG00000159450		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	67	0	T	NM_007113		152085342	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	29.09	39	16	SNP	0.985	G
TENM2	57451	genome.wustl.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	T	rs187245740	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:167420177G>T	ENST00000518659.1	+	5	1215	c.1176G>T	c.(1174-1176)gcG>gcT	p.A392A	TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000519204.1_Silent_p.A271A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	392					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTTGCTGGCGTATTTCATAG	0.537																																																	0													35.0	36.0	36.0					5																	167420177		1922	4134	6056	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1176G>T	5.37:g.167420177G>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A392	ENST00000518659.1	37	c.1176		5																																																																																			TENM2	-	NULL	ENSG00000145934		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1		0.00	65	0	G	NM_001122679		167420177	+1			no_errors	ENST00000518659	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	T
TESC	54997	genome.wustl.edu	37	12	117484586	117484586	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:117484586C>T	ENST00000335209.7	-	5	593	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	TESC_ENST00000541210.1_Missense_Mutation_p.R109Q|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000392545.4_Missense_Mutation_p.R189Q			Q96BS2	CHP3_HUMAN	tescalcin	136	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CTTTACATTTCGATATTCTTC	0.622																																																	0													50.0	45.0	47.0					12																	117484586		2197	4283	6480	SO:0001583	missense	0			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.407G>A	12.37:g.117484586C>T	ENSP00000334785:p.Arg136Gln		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R189Q	ENST00000335209.7	37	c.566	CCDS9183.3	12	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548190	0.65311	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.68765	-0.35;-0.35;-0.35	4.68	3.76	0.43208	EF-hand-like domain (1);	0.127910	0.49916	D	0.000125	T	0.55625	0.1932	L	0.47016	1.485	0.51767	D	0.999932	P	0.40211	0.707	B	0.36567	0.228	T	0.56559	-0.7959	10	0.48119	T	0.1	-1.6524	9.3289	0.38010	0.0:0.7688:0.1485:0.0827	.	136	Q96BS2	TESC_HUMAN	Q	136;189;109	ENSP00000334785:R136Q;ENSP00000376328:R189Q;ENSP00000445689:R109Q	ENSP00000334785:R136Q	R	-	2	0	TESC	115968969	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.673000	0.46858	1.147000	0.42369	0.555000	0.69702	CGA	TESC	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000088992		0.622	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	-	0.00	63	0	C	NM_017899		117484586	-1	tier1	-	no_errors	ENST00000392545	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	T
TEX11	56159	genome.wustl.edu	37	X	69898668	69898668	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:69898668C>T	ENST00000395889.2	-	16	1428	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	TEX11_ENST00000344304.3_Missense_Mutation_p.A425T|TEX11_ENST00000374320.2_Missense_Mutation_p.A100T|TEX11_ENST00000374333.2_Missense_Mutation_p.A410T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	425					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAACTACTGGCAGCTTGTCTC	0.333																																																	0													113.0	99.0	104.0					X																	69898668		2203	4300	6503	SO:0001583	missense	0			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1273G>A	X.37:g.69898668C>T	ENSP00000379226:p.Ala425Thr		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.A425T	ENST00000395889.2	37	c.1273	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	C	1.365	-0.587739	0.03799	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.58	-0.49	0.12049	Tetratricopeptide-like helical (1);	0.757705	0.12270	N	0.483919	T	0.57740	0.2074	L	0.35854	1.095	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	T	0.35748	-0.9776	9	.	.	.	4.1432	4.4791	0.11759	0.2654:0.4805:0.0:0.2541	.	410;425	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	410;425;100;425	ENSP00000363453:A410T;ENSP00000379226:A425T;ENSP00000363440:A100T;ENSP00000340995:A425T	.	A	-	1	0	TEX11	69815393	0.977000	0.34250	0.015000	0.15790	0.437000	0.31866	-0.121000	0.10643	-0.871000	0.04042	-1.231000	0.01572	GCC	TEX11	-	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	ENSG00000120498		0.333	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	-	0.00	92	0	C			69898668	-1	tier1	-	no_errors	ENST00000344304	ensembl	human	known	74_37	missense	67.52	38	79	SNP	0.080	T
TFAP2B	7021	genome.wustl.edu	37	6	50791203	50791203	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:50791203G>A	ENST00000393655.3	+	2	334	c.165G>A	c.(163-165)ccG>ccA	p.P55P	TFAP2B_ENST00000263046.4_Silent_p.P64P|TFAP2B_ENST00000489228.1_3'UTR	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	55	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGAGCGCCCCGCCGCTGTCCC	0.706																																					Pancreas(116;1373 2332 5475 10752)												0													27.0	33.0	31.0					6																	50791203		2201	4299	6500	SO:0001819	synonymous_variant	0			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.165G>A	6.37:g.50791203G>A			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.P64	ENST00000393655.3	37	c.192	CCDS4934.2	6																																																																																			TFAP2B	-	NULL	ENSG00000008196		0.706	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	-	0.00	48	0	G	NM_003221		50791203	+1	tier1	-	no_errors	ENST00000263046	ensembl	human	known	74_37	silent	37.25	32	19	SNP	0.935	A
TFIP11	24144	genome.wustl.edu	37	22	26888021	26888021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:26888021C>T	ENST00000407690.1	-	15	2755	c.2472G>A	c.(2470-2472)tgG>tgA	p.W824*	TFIP11_ENST00000405938.1_Nonsense_Mutation_p.W824*|SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000407148.1_Nonsense_Mutation_p.W824*|TFIP11_ENST00000407431.1_Nonsense_Mutation_p.W824*	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	824					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGGTGGGCACCCACGTCTTCT	0.552																																																	0													86.0	56.0	66.0					22																	26888021		2203	4300	6503	SO:0001587	stop_gained	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2472G>A	22.37:g.26888021C>T	ENSP00000384421:p.Trp824*		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Nonsense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.W824*	ENST00000407690.1	37	c.2472	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	C	43	10.224150	0.99362	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8712	18.6556	0.91452	0.0:1.0:0.0:0.0	.	.	.	.	X	824;824;824;509;824	.	ENSP00000384297:W824X	W	-	3	0	TFIP11	25218021	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.370000	0.79589	2.884000	0.98904	0.655000	0.94253	TGG	TFIP11	-	NULL	ENSG00000100109		0.552	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1		0.00	31	0	C	NM_001008697		26888021	-1			no_errors	ENST00000405938	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	1.000	T
TIAM1	7074	genome.wustl.edu	37	21	32502599	32502599	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr21:32502599C>A	ENST00000286827.3	-	26	4448	c.3977G>T	c.(3976-3978)tGg>tTg	p.W1326L	TIAM1_ENST00000541036.1_Missense_Mutation_p.W1266L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1326	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAAGGGGTCCCAGTCCTCATA	0.527																																																	0													154.0	152.0	152.0					21																	32502599		2203	4300	6503	SO:0001583	missense	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3977G>T	21.37:g.32502599C>A	ENSP00000286827:p.Trp1326Leu		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.W1326L	ENST00000286827.3	37	c.3977	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440887	0.43326	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.36520	1.25;1.28	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.121890	0.56097	D	0.000024	T	0.21267	0.0512	N	0.08118	0	0.44352	D	0.997245	B;B;B	0.23249	0.082;0.049;0.049	B;B;B	0.20577	0.03;0.013;0.013	T	0.11179	-1.0598	10	0.16896	T	0.51	.	16.773	0.85543	0.0:0.8714:0.1286:0.0	.	1266;1266;1326	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	1326;1266	ENSP00000286827:W1326L;ENSP00000441570:W1266L	ENSP00000286827:W1326L	W	-	2	0	TIAM1	31424470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.668000	0.54554	2.854000	0.98071	0.655000	0.94253	TGG	TIAM1	-	smart_Pleckstrin_homology	ENSG00000156299		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0.00	37	0	C	NM_003253		32502599	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	A
TIMELESS	8914	genome.wustl.edu	37	12	56817430	56817430	+	Silent	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:56817430C>T	ENST00000553532.1	-	17	2178	c.2028G>A	c.(2026-2028)gaG>gaA	p.E676E	TIMELESS_ENST00000229201.4_Silent_p.E675E|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCAActcctcctcttcctcct	0.537																																																	0													61.0	57.0	58.0					12																	56817430		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2028G>A	12.37:g.56817430C>T				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E676	ENST00000553532.1	37	c.2028	CCDS8918.1	12																																																																																			TIMELESS	-	NULL	ENSG00000111602		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1		0.00	23	0	C	NM_003920		56817430	-1			no_errors	ENST00000553532	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.994	T
TLN1	7094	genome.wustl.edu	37	9	35700018	35700018	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:35700018G>A	ENST00000314888.9	-	50	7074	c.6721C>T	c.(6721-6723)Cgg>Tgg	p.R2241W	TLN1_ENST00000540444.1_Missense_Mutation_p.R2129W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2241					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCACACTCCCGGCCATAGTGC	0.572																																																	0													81.0	78.0	79.0					9																	35700018		2203	4300	6503	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6721C>T	9.37:g.35700018G>A	ENSP00000316029:p.Arg2241Trp		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R2241W	ENST00000314888.9	37	c.6721	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814192	0.70912	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70282	-0.47;-0.44	5.37	4.47	0.54385	.	0.357982	0.30051	N	0.010538	T	0.67859	0.2938	L	0.34521	1.04	0.27787	N	0.942956	D	0.71674	0.998	P	0.50659	0.647	T	0.64976	-0.6280	10	0.72032	D	0.01	-21.0765	12.8694	0.57957	0.0:0.0:0.5915:0.4085	.	2241	Q9Y490	TLN1_HUMAN	W	2241;2129	ENSP00000316029:R2241W;ENSP00000442981:R2129W	ENSP00000316029:R2241W	R	-	1	2	TLN1	35690018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.691000	0.61738	1.245000	0.43885	-0.181000	0.13052	CGG	TLN1	-	NULL	ENSG00000137076		0.572	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0.00	55	0	G	NM_006289		35700018	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	A
TMEM176B	28959	genome.wustl.edu	37	7	150490688	150490688	+	Splice_Site	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:150490688C>A	ENST00000447204.2	-	4	688	c.316G>T	c.(316-318)Gtg>Ttg	p.V106L	TMEM176B_ENST00000429904.2_Splice_Site_p.V106L|TMEM176B_ENST00000492607.1_Splice_Site_p.V106L|TMEM176B_ENST00000326442.5_Splice_Site_p.V106L|TMEM176B_ENST00000450753.2_Splice_Site_p.V69L|TMEM176B_ENST00000434545.1_Splice_Site_p.V106L	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	106					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGCGATCACCTGAAAAGAG	0.527																																																	0													87.0	82.0	84.0					7																	150490688		2203	4300	6503	SO:0001630	splice_region_variant	0			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.316-1G>T	7.37:g.150490688C>A			B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.V106L	ENST00000447204.2	37	c.316	CCDS5908.1	7	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403656	0.42613	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31;4.31	4.31	4.31	0.51392	.	0.461285	0.20012	N	0.101081	T	0.03053	0.0090	N	0.22421	0.69	0.20638	N	0.999875	B;B	0.16802	0.019;0.019	B;B	0.22152	0.023;0.038	T	0.38222	-0.9671	10	0.72032	D	0.01	-6.8688	12.6827	0.56930	0.0:1.0:0.0:0.0	.	69;106	E9PAV4;Q3YBM2	.;T176B_HUMAN	L	106;106;106;106;106;69;106	ENSP00000419258:V106L;ENSP00000318409:V106L;ENSP00000410269:V106L;ENSP00000413531:V106L;ENSP00000397810:V106L;ENSP00000404831:V69L	ENSP00000318409:V106L	V	-	1	0	TMEM176B	150121621	0.990000	0.36364	0.155000	0.22561	0.007000	0.05969	2.796000	0.47869	2.120000	0.65058	0.551000	0.68910	GTG	TMEM176B	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000106565		0.527	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	-	0.00	27	0	C	NM_014020	Missense_Mutation	150490688	-1	tier1	-	no_errors	ENST00000326442	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.708	A
TNR	7143	genome.wustl.edu	37	1	175365941	175365941	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:175365941C>A	ENST00000367674.2	-	5	1687	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	TNR_ENST00000263525.2_Missense_Mutation_p.A327S			Q92752	TENR_HUMAN	tenascin R	327					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)				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)					TCTGGAGGGGCAACTACCGGG	0.547																																																	0													72.0	75.0	74.0					1																	175365941		2203	4300	6503	SO:0001583	missense	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.979G>T	1.37:g.175365941C>A	ENSP00000356646:p.Ala327Ser		C9J563|Q15568|Q5R3G0	Missense_Mutation	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.A327S	ENST00000367674.2	37	c.979	CCDS1318.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.846|8.846	0.943522|0.943522	0.18281|0.18281	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.72394|.	-0.65;-0.65|.	5.4|5.4	4.48|4.48	0.54585|0.54585	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.192146|.	0.44688|.	D|.	0.000431|.	T|T	0.35885|0.35885	0.0947|0.0947	N|N	0.04746|0.04746	-0.17|-0.17	0.48511|0.48511	D|D	0.999664|0.999664	B|.	0.12630|.	0.006|.	B|.	0.22880|.	0.042|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|5	0.06099|.	T|.	0.92|.	.|.	14.1538|14.1538	0.65405|0.65405	0.0:0.9263:0.0:0.0737|0.0:0.9263:0.0:0.0737	.|.	327|.	Q92752|.	TENR_HUMAN|.	S|F	327|51	ENSP00000356646:A327S;ENSP00000263525:A327S|.	ENSP00000263525:A327S|.	A|C	-|-	1|2	0|0	TNR|TNR	173632564|173632564	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.300000|1.300000	0.33436|0.33436	1.247000|1.247000	0.43917|0.43917	0.563000|0.563000	0.77884|0.77884	GCC|TGC	TNR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0.00	34	0	C	NM_003285		175365941	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	A
AC005013.5	0	genome.wustl.edu	37	7	28997167	28997167	+	lincRNA	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:28997167C>T	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							GCCCCCAGGGCGTTCCCGTCC	0.647																																																	0													17.0	22.0	20.0					7																	28997167		1959	4135	6094			0																															7.37:g.28997167C>T				RNA	SNP	-	NULL	ENST00000436594.1	37	NULL		7																																																																																			TRIL	-	-	ENSG00000176734		0.647	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	TRIL	HGNC	lincRNA	OTTHUMT00000327953.3	-	0.00	92	0	C			28997167	-1	tier1	-	no_errors	ENST00000322982	ensembl	human	known	74_37	rna	44.78	72	60	SNP	0.684	T
TPK1	27010	genome.wustl.edu	37	7	144288333	144288333	+	Intron	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:144288333C>A	ENST00000360057.3	-	7	604				TPK1_ENST00000549981.1_Intron|TPK1_ENST00000547966.1_Intron|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1						small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TTTCAGGATTCTCCTTCACAT	0.383																																					Ovarian(45;88 1034 2073 5829 28455)												0																																										SO:0001627	intron_variant	0			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.501+182G>T	7.37:g.144288333C>A			A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	RNA	SNP	-	NULL	ENST00000360057.3	37	NULL	CCDS5888.1	7																																																																																			TPK1	-	-	ENSG00000196511		0.383	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPK1	HGNC	protein_coding	OTTHUMT00000327777.1	-	0.00	10	0	C	NM_022445		144288333	-1	tier1	-	no_errors	ENST00000548831	ensembl	human	known	74_37	rna	83.33	1	5	SNP	0.003	A
TSPY26P	128854	genome.wustl.edu	37	20	30777004	30777004	+	RNA	SNP	C	C	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:30777004C>A	ENST00000565928.1	-	0	1159					NR_002781.1		Q9H489	TSY26_HUMAN	testis specific protein, Y-linked 26, pseudogene						nucleosome assembly (GO:0006334)	nucleus (GO:0005634)											CAAGGCAGCACTTAGCCAGAC	0.637																																																	0																																												0					20q11.21	2010-10-28	2010-10-28	2010-10-28	ENSG00000235217	ENSG00000235217			16256	pseudogene	pseudogene			"""TSPY-like 3"", ""TSPY-like 3 (pseudogene)"""	TSPYL3			Standard	NR_002781		Approved	bA392M18.1	uc002wxm.1	Q9H489	OTTHUMG00000032212		20.37:g.30777004C>A			Q3MJ63|Q3MJ65	RNA	SNP	-	NULL	ENST00000565928.1	37	NULL		20																																																																																			TSPY26P	-	-	ENSG00000235217		0.637	TSPY26P-002	KNOWN	basic	processed_transcript	TSPY26P	HGNC	pseudogene	OTTHUMT00000430653.1	-	0.00	37	0	C	NM_178465		30777004	-1	tier1	-	no_errors	ENST00000565928	ensembl	human	known	74_37	rna	43.33	17	13	SNP	0.978	A
TTN	7273	genome.wustl.edu	37	2	179592555	179592555	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:179592555G>T	ENST00000591111.1	-	66	19023	c.18799C>A	c.(18799-18801)Caa>Aaa	p.Q6267K	TTN_ENST00000342992.6_Missense_Mutation_p.Q5340K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q6584K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13044	Ig-like 44.				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)			GGTATGGCTTGCTGTCGCCCA	0.353																																																	0													74.0	73.0	73.0					2																	179592555		1839	4086	5925	SO:0001583	missense	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.18799C>A	2.37:g.179592555G>T	ENSP00000465570:p.Gln6267Lys		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	Missense_Mutation	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.Q5340K	ENST00000591111.1	37	c.16018		2	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198734	0.22121	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45296	0.1335	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.41070	-0.9529	9	0.87932	D	0	.	15.2218	0.73316	0.0:0.0:0.8595:0.1405	.	6267	Q8WZ42	TITIN_HUMAN	K	5340	ENSP00000343764:Q5340K	ENSP00000343764:Q5340K	Q	-	1	0	TTN	179300800	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	3.075000	0.50073	2.840000	0.97914	0.655000	0.94253	CAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	51	0	G	NM_133378		179592555	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.998	T
UBTF	7343	genome.wustl.edu	37	17	42286868	42286868	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:42286868C>T	ENST00000302904.4	-	17	2249	c.1757G>A	c.(1756-1758)gGg>gAg	p.G586E	UBTF_ENST00000529383.1_Missense_Mutation_p.G586E|UBTF_ENST00000436088.1_Missense_Mutation_p.G586E|UBTF_ENST00000343638.5_Missense_Mutation_p.G549E|UBTF_ENST00000393606.3_Missense_Mutation_p.G549E|UBTF_ENST00000533177.1_Missense_Mutation_p.G549E|UBTF_ENST00000527034.1_Missense_Mutation_p.G549E|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.G549E			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	586					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTTCAGCTCCCCATTGGACAG	0.602																																																	0													57.0	50.0	53.0					17																	42286868		2203	4300	6503	SO:0001583	missense	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1757G>A	17.37:g.42286868C>T	ENSP00000302640:p.Gly586Glu		A8K6R8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G586E	ENST00000302904.4	37	c.1757	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019315	0.93462	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;T	0.98150	-4.74;-4.03;-4.75;-4.74;-4.03;-4.74;-4.74;-4.03;2.07	5.16	5.16	0.70880	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	L	0.54323	1.7	0.80722	D	1	D;P;D	0.89917	1.0;0.946;0.999	D;P;D	0.97110	1.0;0.781;0.995	D	0.95999	0.8992	10	0.02654	T	1	-28.2886	18.2838	0.90107	0.0:1.0:0.0:0.0	.	549;549;586	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	E	549;586;549;549;586;549;549;586;173	ENSP00000345297:G549E;ENSP00000302640:G586E;ENSP00000431539:G549E;ENSP00000437180:G549E;ENSP00000390669:G586E;ENSP00000377231:G549E;ENSP00000432925:G549E;ENSP00000435708:G586E;ENSP00000431295:G173E	ENSP00000302640:G586E	G	-	2	0	UBTF	39642394	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.605000	0.82844	2.409000	0.81822	0.462000	0.41574	GGG	UBTF	-	superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000108312		0.602	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1		0.00	53	0	C	NM_014233		42286868	-1			no_errors	ENST00000302904	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
UGT1A5	54579	genome.wustl.edu	37	2	234622316	234622316	+	Missense_Mutation	SNP	G	G	T	rs200994534	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:234622316G>T	ENST00000373414.3	+	1	679	c.679G>T	c.(679-681)Gtt>Ttt	p.V227F	UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.V227F			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	227						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTGCCATGCTGTTTCTGCTCC	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		22331	0.0		0.002	False		,,,				2504	0.0																0													254.0	235.0	241.0					2																	234622316		2203	4300	6503	SO:0001583	missense	0			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.679G>T	2.37:g.234622316G>T	ENSP00000362513:p.Val227Phe		B8K294	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V227F	ENST00000373414.3	37	c.679	CCDS33404.1	2	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.893015	0.00522	.	.	ENSG00000240224	ENST00000373414	T	0.58210	0.35	4.87	-9.74	0.00509	.	2.230830	0.01847	N	0.035666	T	0.16896	0.0406	N	0.02368	-0.58	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.24693	-1.0153	10	0.02654	T	1	.	1.8859	0.03237	0.4398:0.1596:0.2484:0.1521	.	227;227	Q5DSZ9;P35504	.;UD15_HUMAN	F	227	ENSP00000362513:V227F	ENSP00000362513:V227F	V	+	1	0	UGT1A5	234287055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.072000	0.00008	-3.495000	0.00152	-1.130000	0.01982	GTT	UGT1A5	-	pfam_UDP_glucos_trans	ENSG00000240224		0.498	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	HGNC	protein_coding	OTTHUMT00000130985.1	-	0.00	145	0	G	NM_019078		234622316	+1	tier1	rs200994534	no_errors	ENST00000373414	ensembl	human	known	74_37	missense	54.79	85	103	SNP	0.000	T
UGT3A2	167127	genome.wustl.edu	37	5	36066849	36066851	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:36066849_36066851delGGA	ENST00000282507.3	-	1	142_144	c.41_43delTCC	c.(40-45)ctccct>cct	p.L14del	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_In_Frame_Del_p.L14del|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	14					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGACCCCAGGGAGAAGGAAGCC	0.611																																																	0																																										SO:0001651	inframe_deletion	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.41_43delTCC	5.37:g.36066849_36066851delGGA	ENSP00000282507:p.Leu14del		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	In_Frame_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L14in_frame_del	ENST00000282507.3	37	c.43_41	CCDS3914.1	5																																																																																			UGT3A2	-	NULL	ENSG00000168671		0.611	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2		0.00	86	0	GGA	NM_174914		36066851	-1	tier1		no_errors	ENST00000282507	ensembl	human	known	74_37	in_frame_del	23.08	60	18	DEL	0.000:0.001:0.003	-
UGT3A2	167127	genome.wustl.edu	37	5	36066855	36066855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:36066855delG	ENST00000282507.3	-	1	138	c.37delC	c.(37-39)cttfs	p.L14fs	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Frame_Shift_Del_p.L14fs|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	14					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAGGGAGAAGGAAGCCCACT	0.617																																																	0													130.0	135.0	133.0					5																	36066855		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.37delC	5.37:g.36066855delG	ENSP00000282507:p.Leu14fs		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Frame_Shift_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L13fs	ENST00000282507.3	37	c.37	CCDS3914.1	5																																																																																			UGT3A2	-	NULL	ENSG00000168671		0.617	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2		0.00	86	0	G	NM_174914		36066855	-1	tier1		no_errors	ENST00000282507	ensembl	human	known	74_37	frame_shift_del	23.38	59	18	DEL	0.000	-
UGT3A2	167127	genome.wustl.edu	37	5	36066850	36066850	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:36066850G>A	ENST00000282507.3	-	1	143	c.42C>T	c.(40-42)ctC>ctT	p.L14L	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Silent_p.L14L|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	14					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGACCCCAGGGAGAAGGAAGC	0.607																																																	0													132.0	138.0	136.0					5																	36066850		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.42C>T	5.37:g.36066850G>A			B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L14	ENST00000282507.3	37	c.42	CCDS3914.1	5																																																																																			UGT3A2	-	NULL	ENSG00000168671		0.607	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2		0.00	85	0	G	NM_174914		36066850	-1			no_errors	ENST00000282507	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.001	A
UHMK1	127933	genome.wustl.edu	37	1	162470727	162470727	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:162470727G>T	ENST00000489294.1	+	3	744	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	UHMK1_ENST00000545294.1_Missense_Mutation_p.G122W|UHMK1_ENST00000538489.1_Missense_Mutation_p.G196W|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGACAGACGGGTATCGGGC	0.423																																																	0													85.0	81.0	82.0					1																	162470727		2203	4300	6503	SO:0001583	missense	0			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.586G>T	1.37:g.162470727G>T	ENSP00000420270:p.Gly196Trp		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom	p.G196W	ENST00000489294.1	37	c.586	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644603	0.47258	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.64991	-0.13;-0.13;-0.13	5.12	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	N	0.16478	0.41	.	.	.	D;D;B	0.89917	1.0;0.997;0.05	D;D;B	0.81914	0.995;0.956;0.027	T	0.59375	-0.7466	9	0.40728	T	0.16	-0.6539	12.0549	0.53529	0.0:0.0:0.8273:0.1727	.	196;196;122	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	W	122;196;196	ENSP00000441226:G122W;ENSP00000446416:G196W;ENSP00000420270:G196W	ENSP00000420270:G196W	G	+	1	0	UHMK1	160737351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.675000	0.91195	1.450000	0.47717	0.650000	0.86243	GGG	UHMK1	-	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	ENSG00000152332		0.423	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	-	0.00	68	0	G	NM_175866		162470727	+1	tier1	-	no_errors	ENST00000489294	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
UNC13C	440279	genome.wustl.edu	37	15	54307297	54307297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:54307297C>T	ENST00000260323.11	+	1	2197	c.2197C>T	c.(2197-2199)Cag>Tag	p.Q733*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.Q733*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q733*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	733					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCACAAGGCCAGTGGGTTGG	0.413																																																	0													33.0	31.0	31.0					15																	54307297		1869	4115	5984	SO:0001587	stop_gained	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2197C>T	15.37:g.54307297C>T	ENSP00000260323:p.Gln733*		Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Q733*	ENST00000260323.11	37	c.2197	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.481735	0.98312	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.79	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.4622	0.67459	0.0:0.589:0.411:0.0	.	.	.	.	X	733	.	ENSP00000260323:Q733X	Q	+	1	0	UNC13C	52094589	0.974000	0.33945	0.596000	0.28811	0.967000	0.64934	2.490000	0.45294	1.390000	0.46547	0.650000	0.86243	CAG	UNC13C	-	NULL	ENSG00000137766		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0.00	15	0	C	NM_173166		54307297	+1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	nonsense	38.46	16	10	SNP	0.769	T
UNC80	285175	genome.wustl.edu	37	2	210805968	210805968	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:210805968G>A	ENST00000439458.1	+	43	6552	c.6472G>A	c.(6472-6474)Gac>Aac	p.D2158N	UNC80_ENST00000272845.6_Missense_Mutation_p.D2153N	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2158					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GTTTGGCCTCGACACTCTTCA	0.498																																																	0													136.0	121.0	126.0					2																	210805968		692	1591	2283	SO:0001583	missense	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.6472G>A	2.37:g.210805968G>A	ENSP00000391088:p.Asp2158Asn		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.D2158N	ENST00000439458.1	37	c.6472	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.550853	0.96501	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.45668	0.89;0.89	5.21	5.21	0.72293	.	0.047201	0.85682	D	0.000000	T	0.59797	0.2220	M	0.64170	1.965	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.63571	-0.6607	10	0.72032	D	0.01	-16.2668	18.7382	0.91764	0.0:0.0:1.0:0.0	.	2158	Q8N2C7	UNC80_HUMAN	N	2158;2153	ENSP00000391088:D2158N;ENSP00000272845:D2153N	ENSP00000272845:D2153N	D	+	1	0	UNC80	210514213	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	9.575000	0.98187	2.432000	0.82394	0.655000	0.94253	GAC	UNC80	-	NULL	ENSG00000144406		0.498	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		-	0.00	78	0	G	NM_182587		210805968	+1	tier1	-	no_errors	ENST00000439458	ensembl	human	known	74_37	missense	58.04	47	65	SNP	1.000	A
UNKL	64718	genome.wustl.edu	37	16	1444165	1444165	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr16:1444165G>A	ENST00000389221.4	-	7	894	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	UNKL_ENST00000508903.2_Missense_Mutation_p.R302C|UNKL_ENST00000397462.1_Missense_Mutation_p.R489C	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	299					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				AAGGGGCCGCGCGGGCAGTAC	0.532																																																	0																																										SO:0001583	missense	0			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.895C>T	16.37:g.1444165G>A	ENSP00000373873:p.Arg299Cys		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R489C	ENST00000389221.4	37	c.1465	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018848	0.35606	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462	T;T;T	0.51071	0.72;0.72;0.72	4.94	3.97	0.46021	Zinc finger, CCCH-type (3);	0.264049	0.37715	N	0.001974	T	0.69851	0.3157	M	0.87456	2.885	0.30691	N	0.751357	D	0.89917	1.0	D	0.91635	0.999	T	0.73300	-0.4026	10	0.87932	D	0	.	10.4205	0.44348	0.0:0.0:0.645:0.355	.	299	Q9H9P5	UNKL_HUMAN	C	299;302;489	ENSP00000373873:R299C;ENSP00000422852:R302C;ENSP00000380604:R489C	ENSP00000373873:R299C	R	-	1	0	UNKL	1384166	1.000000	0.71417	0.021000	0.16686	0.028000	0.11728	3.204000	0.51082	1.056000	0.40484	0.591000	0.81541	CGC	UNKL	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000059145		0.532	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		-	0.00	98	0	G	NM_001037125		1444165	-1	tier1	-	no_errors	ENST00000397462	ensembl	human	known	74_37	missense	54.74	62	75	SNP	0.733	A
USP13	8975	genome.wustl.edu	37	3	179426666	179426666	+	Silent	SNP	C	C	T	rs552007222		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:179426666C>T	ENST00000263966.3	+	6	1197	c.726C>T	c.(724-726)aaC>aaT	p.N242N	USP13_ENST00000496897.1_Silent_p.N177N|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	242					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTGGGGGCAACGGGCATGCGC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17865	0.001		0.0	False		,,,				2504	0.0																0													145.0	128.0	134.0					3																	179426666		2203	4300	6503	SO:0001819	synonymous_variant	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.726C>T	3.37:g.179426666C>T			A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.N242	ENST00000263966.3	37	c.726	CCDS3235.1	3																																																																																			USP13	-	pfam_Znf_UBP,smart_Znf_UBP,pirsf_Ubiquitinyl_hydrolase,pfscan_Znf_UBP	ENSG00000058056		0.567	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	-	0.00	70	0	C			179426666	+1	tier1	-	no_errors	ENST00000263966	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.207	T
VANGL2	57216	genome.wustl.edu	37	1	160388867	160388867	+	Missense_Mutation	SNP	C	C	T	rs149889263		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:160388867C>T	ENST00000368061.2	+	4	742	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	90					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGACCTCACACGCATCGCCAA	0.622																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	114.0	115.0		268	4.6	1.0	1	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	missense	VANGL2	NM_020335.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	90/522	160388867	2,13004	2203	4300	6503	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.268C>T	1.37:g.160388867C>T	ENSP00000357040:p.Arg90Cys		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.R90C	ENST00000368061.2	37	c.268	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980408	0.74474	2.27E-4	1.16E-4	ENSG00000162738	ENST00000368061	D	0.81499	-1.5	4.55	4.55	0.56014	.	0.067059	0.64402	D	0.000013	D	0.83936	0.5362	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.54815	0.761	D	0.86215	0.1627	10	0.59425	D	0.04	-16.0774	16.2429	0.82424	0.0:1.0:0.0:0.0	.	90	Q9ULK5	VANG2_HUMAN	C	90	ENSP00000357040:R90C	ENSP00000357040:R90C	R	+	1	0	VANGL2	158655491	0.998000	0.40836	0.996000	0.52242	0.986000	0.74619	3.702000	0.54800	2.232000	0.73038	0.563000	0.77884	CGC	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.622	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0.00	20	0	C	NM_020335		160388867	+1	tier1	rs149889263	no_errors	ENST00000368061	ensembl	human	known	74_37	missense	44.00	14	11	SNP	0.996	T
VPS37C	55048	genome.wustl.edu	37	11	60899905	60899905	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:60899905delT	ENST00000301765.5	-	5	687	c.455delA	c.(454-456)aagfs	p.K152fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	152	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						TTCCTGGAGCTTTTCCACGCG	0.657																																																	0													12.0	14.0	13.0					11																	60899905		2193	4289	6482	SO:0001589	frameshift_variant	0			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.455delA	11.37:g.60899905delT	ENSP00000301765:p.Lys152fs		Q8N3K4	Frame_Shift_Del	DEL	pfam_Mod_r	p.K152fs	ENST00000301765.5	37	c.455	CCDS31573.1	11																																																																																			VPS37C	-	pfam_Mod_r	ENSG00000167987		0.657	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37C	HGNC	protein_coding	OTTHUMT00000396467.1		0.00	40	0	T	NM_017966		60899905	-1	tier1		no_errors	ENST00000301765	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-
VWCE	220001	genome.wustl.edu	37	11	61044094	61044094	+	Frame_Shift_Del	DEL	G	G	-	rs141301435		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:61044094delG	ENST00000335613.5	-	11	1852	c.1466delC	c.(1465-1467)ccafs	p.P489fs	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	489	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATCCGTCTGTGGGGGGGTCTG	0.507																																																	0													41.0	34.0	37.0					11																	61044094		2203	4299	6502	SO:0001589	frameshift_variant	0			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1466delC	11.37:g.61044094delG	ENSP00000334186:p.Pro489fs		A5PKV0|Q7Z7L6|Q86WK8	Frame_Shift_Del	DEL	pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.P489fs	ENST00000335613.5	37	c.1466	CCDS8002.1	11																																																																																			VWCE	-	smart_VWC_out,smart_VWF_C	ENSG00000167992		0.507	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1		0.00	126	0	G	NM_152718		61044094	-1	tier1		no_errors	ENST00000335613	ensembl	human	known	74_37	frame_shift_del	28.21	84	33	DEL	0.008	-
ZC3H3	23144	genome.wustl.edu	37	8	144620514	144620514	+	Silent	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:144620514A>G	ENST00000262577.5	-	2	1054	c.1023T>C	c.(1021-1023)tcT>tcC	p.S341S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	341					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCATGCCAGCAGAGGCCTTGC	0.612																																																	0													68.0	72.0	71.0					8																	144620514		2202	4299	6501	SO:0001819	synonymous_variant	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1023T>C	8.37:g.144620514A>G			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S341	ENST00000262577.5	37	c.1023	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.612	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	-	0.00	51	0	A	NM_015117		144620514	-1	tier1	-	no_errors	ENST00000262577	ensembl	human	known	74_37	silent	27.93	80	31	SNP	0.000	G
ZFAND2B	130617	genome.wustl.edu	37	2	220071745	220071745	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:220071745G>A	ENST00000289528.5	+	1	231	c.36G>A	c.(34-36)gaG>gaA	p.E12E	ZFAND2B_ENST00000444522.2_Silent_p.E12E|ZFAND2B_ENST00000409412.1_Silent_p.E12E|ZFAND2B_ENST00000409097.1_Silent_p.E12E|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409594.1_Silent_p.E12E|ZFAND2B_ENST00000409319.1_Silent_p.E12E|ZFAND2B_ENST00000409206.1_Silent_p.E12E|ZFAND2B_ENST00000409217.1_Silent_p.E12E|ZFAND2B_ENST00000409336.1_Silent_p.E12E	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	12						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGTTCGGAGCCGAGCTGTC	0.687																																																	0													15.0	16.0	16.0					2																	220071745		2199	4293	6492	SO:0001819	synonymous_variant	0			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.36G>A	2.37:g.220071745G>A			Q8NB98	Silent	SNP	pfam_Znf_AN1,smart_Znf_AN1,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Znf_AN1	p.E12	ENST00000289528.5	37	c.36	CCDS2435.1	2																																																																																			ZFAND2B	-	pfam_Znf_AN1,smart_Znf_AN1	ENSG00000158552		0.687	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	ZFAND2B	HGNC	protein_coding	OTTHUMT00000256824.2	-	0.00	116	0	G	NM_138802		220071745	+1	tier1	-	no_errors	ENST00000289528	ensembl	human	known	74_37	silent	42.97	73	55	SNP	1.000	A
ZNF12	7559	genome.wustl.edu	37	7	6731402	6731404	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:6731402_6731404delAGA	ENST00000405858.1	-	5	1710_1712	c.1169_1171delTCT	c.(1168-1173)ttctcg>tcg	p.F390del	ZNF12_ENST00000342651.5_In_Frame_Del_p.F352del|ZNF12_ENST00000404360.1_In_Frame_Del_p.F316del|AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	390					negative regulation of transcription, DNA-templated (GO:0045892)|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(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GACTTCTGCGAGAAGGTTTTCCC	0.429																																																	0																																										SO:0001651	inframe_deletion	0			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1169_1171delTCT	7.37:g.6731402_6731404delAGA	ENSP00000385939:p.Phe390del		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	In_Frame_Del	DEL	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.F390in_frame_del	ENST00000405858.1	37	c.1171_1169	CCDS47538.1	7																																																																																			ZNF12	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164631		0.429	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2		0.00	49	0	AGA	NM_016265		6731404	-1	tier1		no_errors	ENST00000405858	ensembl	human	known	74_37	in_frame_del	15.85	69	13	DEL	0.729:0.801:0.993	-
ZNF493	284443	genome.wustl.edu	37	19	21606101	21606101	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:21606101G>A	ENST00000355504.4	+	2	522	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.E214K	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	86					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCGATGTGAAGAATGTGGCAA	0.343																																																	0													53.0	59.0	57.0					19																	21606101		2201	4298	6499	SO:0001583	missense	0			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.256G>A	19.37:g.21606101G>A	ENSP00000347691:p.Glu86Lys		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E86K	ENST00000355504.4	37	c.256	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	12.37	1.918843	0.33908	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.49432	0.78;0.78	1.05	-0.845	0.10737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50343	0.1610	L	0.35542	1.07	0.50313	D	0.999862	D;D	0.71674	0.974;0.998	P;D	0.78314	0.708;0.991	T	0.51092	-0.8749	9	0.52906	T	0.07	.	7.7482	0.28881	0.0:0.2614:0.7386:0.0	.	86;214	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	K	214;86	ENSP00000376110:E214K;ENSP00000347691:E86K	ENSP00000347691:E86K	E	+	1	0	ZNF493	21397941	0.000000	0.05858	0.287000	0.24848	0.285000	0.27093	-1.084000	0.03393	0.452000	0.26830	0.460000	0.39030	GAA	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196268		0.343	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	-	0.00	54	0	G	NM_175910		21606101	+1	tier1	-	no_errors	ENST00000355504	ensembl	human	known	74_37	missense	28.89	64	26	SNP	0.844	A
ZNF521	25925	genome.wustl.edu	37	18	22805487	22805487	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr18:22805487G>T	ENST00000361524.3	-	4	2543	c.2395C>A	c.(2395-2397)Caa>Aaa	p.Q799K	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q799K|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q579K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	799					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATGTGGCATTGCAGCTCCACC	0.458			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													159.0	142.0	148.0					18																	22805487		2203	4300	6503	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2395C>A	18.37:g.22805487G>T	ENSP00000354794:p.Gln799Lys		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q799K	ENST00000361524.3	37	c.2395	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155555	0.38021	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.39592	1.07;1.07	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	N	0.12527	0.23	0.52501	D	0.999953	D	0.65815	0.995	D	0.74348	0.983	T	0.16188	-1.0411	10	0.05721	T	0.95	-31.7868	20.3539	0.98825	0.0:0.0:1.0:0.0	.	799	Q96K83	ZN521_HUMAN	K	799;833;799	ENSP00000354794:Q799K;ENSP00000382352:Q799K	ENSP00000354794:Q799K	Q	-	1	0	ZNF521	21059485	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CAA	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0.00	41	0	G	NM_015461		22805487	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	T
ZNF562	54811	genome.wustl.edu	37	19	9764000	9764000	+	Silent	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:9764000G>A	ENST00000448622.1	-	6	1068	c.906C>T	c.(904-906)tcC>tcT	p.S302S	ZNF562_ENST00000590155.1_Silent_p.S301S|ZNF562_ENST00000453792.2_Silent_p.S233S|ZNF562_ENST00000537617.1_Silent_p.S186S|ZNF562_ENST00000293648.4_Silent_p.S230S|ZNF562_ENST00000541032.1_Silent_p.S265S|ZNF562_ENST00000453372.2_Silent_p.S302S	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	302					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						GAACATTAAAGGATGAGGAAT	0.353																																																	0													88.0	88.0	88.0					19																	9764000		2203	4297	6500	SO:0001819	synonymous_variant	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.906C>T	19.37:g.9764000G>A			Q32MN2|Q9NXS5	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.S302	ENST00000448622.1	37	c.906	CCDS45956.1	19																																																																																			ZNF562	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.353	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	-	0.00	136	0	G	NM_017656		9764000	-1	tier1	-	no_errors	ENST00000448622	ensembl	human	known	74_37	silent	30.48	146	64	SNP	0.002	A
ZNF682	91120	genome.wustl.edu	37	19	20117176	20117176	+	Nonsense_Mutation	SNP	T	T	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:20117176T>A	ENST00000397165.2	-	4	1295	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*	ZNF682_ENST00000397162.1_Nonsense_Mutation_p.K347*|ZNF682_ENST00000595736.1_Nonsense_Mutation_p.K303*|ZNF682_ENST00000597972.1_Nonsense_Mutation_p.K385*|ZNF682_ENST00000358523.5_Nonsense_Mutation_p.K347*|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GAGAACCTCTTAAAGACTTTG	0.368																																																	0													63.0	67.0	65.0					19																	20117176		2088	4256	6344	SO:0001587	stop_gained	0			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1135A>T	19.37:g.20117176T>A	ENSP00000380351:p.Lys379*		B3KU64|E9PFJ5|Q96JV9	Nonsense_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.K379*	ENST00000397165.2	37	c.1135	CCDS42533.1	19	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567321	0.86439	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000341262;ENST00000358523	.	.	.	1.09	1.09	0.20402	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.0004	0.06011	0.0:0.2972:0.0:0.7028	.	.	.	.	X	379;347;48;347	.	ENSP00000340236:K48X	K	-	1	0	ZNF682	19978176	0.005000	0.15991	0.010000	0.14722	0.009000	0.06853	0.031000	0.13710	0.413000	0.25759	0.402000	0.26972	AAG	ZNF682	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197124		0.368	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF682	HGNC	protein_coding	OTTHUMT00000462888.1	-	0.00	49	0	T	NM_033196		20117176	-1	tier1	-	no_errors	ENST00000397165	ensembl	human	known	74_37	nonsense	54.65	39	47	SNP	0.060	A
ZNF682	91120	genome.wustl.edu	37	19	20117944	20117944	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:20117944A>G	ENST00000397165.2	-	4	527	c.367T>C	c.(367-369)Tgt>Cgt	p.C123R	ZNF682_ENST00000397162.1_Missense_Mutation_p.C91R|ZNF682_ENST00000595736.1_Missense_Mutation_p.C47R|ZNF682_ENST00000597972.1_Missense_Mutation_p.C129R|ZNF682_ENST00000358523.5_Missense_Mutation_p.C91R|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGATCCTTACACTCACCCACA	0.348																																																	0													120.0	111.0	114.0					19																	20117944		1870	4132	6002	SO:0001583	missense	0			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.367T>C	19.37:g.20117944A>G	ENSP00000380351:p.Cys123Arg		B3KU64|E9PFJ5|Q96JV9	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.C123R	ENST00000397165.2	37	c.367	CCDS42533.1	19	.	.	.	.	.	.	.	.	.	.	A	1.580	-0.531724	0.04112	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.05382	3.5;3.45;3.45	1.09	-0.252	0.12999	.	.	.	.	.	T	0.08537	0.0212	M	0.73430	2.235	0.09310	N	1	B	0.15473	0.013	B	0.17979	0.02	T	0.32107	-0.9919	9	0.59425	D	0.04	.	4.3259	0.11039	0.5195:0.0:0.4805:0.0	.	123	O95780	ZN682_HUMAN	R	123;91;91	ENSP00000380351:C123R;ENSP00000380348:C91R;ENSP00000351324:C91R	ENSP00000351324:C91R	C	-	1	0	ZNF682	19978944	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.386000	0.02537	-0.497000	0.06641	-0.537000	0.04273	TGT	ZNF682	-	NULL	ENSG00000197124		0.348	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF682	HGNC	protein_coding	OTTHUMT00000462888.1	-	0.00	15	0	A	NM_033196		20117944	-1	tier1	-	no_errors	ENST00000397165	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.000	G
ZNFX1	57169	genome.wustl.edu	37	20	47865500	47865500	+	Missense_Mutation	SNP	C	C	A	rs202073916		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:47865500C>A	ENST00000396105.1	-	14	4307	c.4061G>T	c.(4060-4062)cGg>cTg	p.R1354L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1354L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1354							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGGCCGCACCGAGGAATGGT	0.562																																																	0													91.0	89.0	90.0					20																	47865500		2203	4300	6503	SO:0001583	missense	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4061G>T	20.37:g.47865500C>A	ENSP00000379412:p.Arg1354Leu		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.R1354L	ENST00000396105.1	37	c.4061	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	5.337	0.247427	0.10130	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.86694	-2.16;-2.16	6.16	-1.96	0.07525	.	0.918147	0.09448	N	0.800828	T	0.79464	0.4450	L	0.45285	1.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60495	-0.7252	10	0.26408	T	0.33	-4.3797	8.2652	0.31810	0.1163:0.2577:0.0:0.6261	.	1354	Q9P2E3	ZNFX1_HUMAN	L	1354	ENSP00000360817:R1354L;ENSP00000379412:R1354L	ENSP00000360817:R1354L	R	-	2	0	ZNFX1	47298907	0.000000	0.05858	0.069000	0.20011	0.885000	0.51271	-0.362000	0.07602	-0.618000	0.05656	-1.846000	0.00573	CGG	ZNFX1	-	NULL	ENSG00000124201		0.562	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	-	0.00	68	0	C	NM_021035		47865500	-1	tier1	-	no_errors	ENST00000371752	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.001	A
ZSCAN18	65982	genome.wustl.edu	37	19	58596563	58596563	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:58596563G>A	ENST00000240727.6	-	7	1421	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A341V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A205V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A397V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	341					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTCGGACTCCGCGTCCTGGGG	0.721																																																	0													14.0	18.0	16.0					19																	58596563		2198	4283	6481	SO:0001583	missense	0			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1022C>T	19.37:g.58596563G>A	ENSP00000240727:p.Ala341Val		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A397V	ENST00000240727.6	37	c.1190	CCDS12971.1	19	.	.	.	.	.	.	.	.	.	.	G	9.081	0.999421	0.19121	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02472	4.55;4.28	3.28	-1.49	0.08718	.	1.559840	0.04089	N	0.310994	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.43701	0.718;0.718;0.815;0.718	B;B;B;B	0.26202	0.052;0.052;0.067;0.03	T	0.44513	-0.9323	10	0.30078	T	0.28	.	3.4574	0.07521	0.0:0.3882:0.2112:0.4006	.	397;205;340;341	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	V	397;341;205	ENSP00000240727:A341V;ENSP00000392653:A205V	ENSP00000240727:A341V	A	-	2	0	ZSCAN18	63288375	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	1.083000	0.30815	-0.198000	0.10333	-1.295000	0.01343	GCG	ZSCAN18	-	NULL	ENSG00000121413		0.721	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	-	0.00	16	0	G	NM_023926		58596563	-1	tier1	-	no_errors	ENST00000600404	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.000	A
